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Entry
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- #606176 - DIABETES MELLITUS, PERMANENT NEONATAL, 1; PNDM1
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- OMIM
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<p>
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<span class="h4">#606176</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/606176"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS606176"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</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="#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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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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<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=DIABETES MELLITUS, PERMANENT NEONATAL" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11160&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">DEND syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14458&Typ=Pat" title="Isolated permanent neonatal diabetes mellitus" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Isolated permanent neonata… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1447/" 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.diseaseinfosearch.org/x/5681" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/permanent-neonatal-diabetes-mellitus" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606176[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">DEND syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99885" title="Isolated permanent neonatal diabetes mellitus" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Isolated permanent neonata…</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/8988aefe-60fd-42a6-9446-9dfa81a85d86/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</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="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" 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="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060639" 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/606176" 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:0060639" 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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<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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<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> 79134, 99885<br />
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<strong>DO:</strong> 0060639<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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606176
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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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DIABETES MELLITUS, PERMANENT NEONATAL, 1; PNDM1
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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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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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DIABETES MELLITUS, PERMANENT, OF INFANCY; PDMI
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</span>
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</h4>
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</div>
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<div>
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<br />
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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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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/230?start=-3&limit=10&highlight=230">
|
|
7p13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Diabetes mellitus, permanent neonatal 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606176"> 606176 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GCK
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138079"> 138079 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/606176" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS606176" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/606176" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/606176" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low birth weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276610007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276610007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024032</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Small for gestational age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235991</a>, <a href="https://bioportal.bioontology.org/search?q=C0302511&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0302511</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Neonatal diabetes mellitus <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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Elevated hemoglobin A1C <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4073162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4073162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040217</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040217</a>]</span><br /> -
|
|
Low-undetectable basal serum C-peptide <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393571</a>]</span><br /> -
|
|
Low-undetectable glucagon-stimulated serum C-peptide <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393572</a>]</span><br /> -
|
|
Normal plasma glucagon <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0857681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0857681</a>]</span><br /> -
|
|
Negative insulin autoantibodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393573</a>]</span><br /> -
|
|
Negative glutamic acid decarboxylase autoantibodies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393574&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393574</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset as newborn<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the glucokinase gene (GCK, 138079.0010)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Diabetes mellitus, permanent neonatal
|
|
- <a href="/phenotypicSeries/PS606176">PS606176</a>
|
|
- 4 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
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<a href="/geneMap/7/230?start=-3&limit=10&highlight=230"> 7p13 </a>
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<span class="mim-font">
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<a href="/entry/606176"> Diabetes mellitus, permanent neonatal 1 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/606176"> 606176 </a>
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<a href="/entry/138079"> GCK </a>
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<a href="/entry/138079"> 138079 </a>
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<a href="/geneMap/11/74?start=-3&limit=10&highlight=74"> 11p15.5 </a>
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<span class="mim-font">
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<a href="/entry/618858"> Diabetes mellitus, permanent neonatal 4 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/618858"> 618858 </a>
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<a href="/entry/176730"> INS </a>
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<a href="/entry/176730"> 176730 </a>
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<a href="/geneMap/11/208?start=-3&limit=10&highlight=208"> 11p15.1 </a>
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<span class="mim-font">
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<a href="/entry/618856"> Diabetes, permanent neonatal 2, with or without neurologic features </a>
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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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<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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<a href="/entry/618856"> 618856 </a>
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<a href="/entry/600937"> KCNJ11 </a>
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<span class="mim-font">
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<a href="/entry/600937"> 600937 </a>
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<a href="/geneMap/11/209?start=-3&limit=10&highlight=209"> 11p15.1 </a>
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<span class="mim-font">
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<a href="/entry/618857"> Diabetes mellitus, permanent neonatal 3, with or without neurologic features </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/618857"> 618857 </a>
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<a href="/entry/600509"> ABCC8 </a>
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<a href="/entry/600509"> 600509 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that permanent neonatal diabetes mellitus-1 (PNDM1) is caused by homozygous mutation in the glucokinase gene (GCK; <a href="/entry/138079">138079</a>) on chromosome 7p13.</p>
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<p>Permanent neonatal diabetes mellitus-1 (PNDM1) is a rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well (<a href="#3" class="mim-tip-reference" title="Njolstad, P. R., Sovik, O., Cuesta-Munoz, A., Bjorkhaug, L., Massa, O., Barbetti, F., Undlien, D. E., Shiota, C., Magnuson, M. A., Molven, A., Matschinsky, F. M., Bell, G. I. <strong>Neonatal diabetes mellitus due to complete glucokinase deficiency.</strong> New Eng. J. Med. 344: 1588-1592, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11372010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11372010</a>] [<a href="https://doi.org/10.1056/NEJM200105243442104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11372010">Njolstad et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11372010" 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>PNDM is distinct from transient neonatal diabetes mellitus (TNDM; see <a href="/entry/601410">601410</a>) and childhood-onset autoimmune diabetes mellitus type I (IDDM; <a href="/entry/222100">222100</a>).</p><p><strong><em>Genetic Heterogeneity of Permanent Neonatal Diabetes Mellitus</em></strong></p><p>
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PNDM2 (<a href="/entry/618856">618856</a>) is caused by heterozygous mutation in the KCNJ11 (<a href="/entry/600937">600937</a>) gene on chromosome 11p15.1.</p><p>PNDM3 (<a href="/entry/618857">618857</a>) is caused by heterozygous or homozygous mutation in the ABCC8 (<a href="/entry/600509">600509</a>) gene on chromosome 11p15.1.</p><p>PNDM4 (<a href="/entry/618858">618858</a>) is caused by heterozygous or homozygous mutation in the INS (<a href="/entry/176730">176730</a>) gene on chromosome 11p15.5.</p><p>Pancreatic agenesis, which results in exocrine pancreatic deficiency as well as permanent neonatal-onset diabetes mellitus, can be caused by mutation in the PDX1 gene (<a href="/entry/600733">600733</a>). Pancreatic agenesis associated with cerebellar agenesis (<a href="/entry/609069">609069</a>) can be caused by mutation in the PTF1A gene (<a href="/entry/607194">607194</a>). Pancreatic agenesis associated with congenital cardiac defects (<a href="/entry/600001">600001</a>) can be caused by mutation in the GATA6 gene (<a href="/entry/601656">601656</a>).</p>
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<p><a href="#3" class="mim-tip-reference" title="Njolstad, P. R., Sovik, O., Cuesta-Munoz, A., Bjorkhaug, L., Massa, O., Barbetti, F., Undlien, D. E., Shiota, C., Magnuson, M. A., Molven, A., Matschinsky, F. M., Bell, G. I. <strong>Neonatal diabetes mellitus due to complete glucokinase deficiency.</strong> New Eng. J. Med. 344: 1588-1592, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11372010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11372010</a>] [<a href="https://doi.org/10.1056/NEJM200105243442104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11372010">Njolstad et al. (2001)</a> described 2 patients with permanent neonatal diabetes mellitus and complete deficiency of glucokinase. The first patient was a Norwegian girl, the child of first-cousin parents, who was delivered by cesarean section at 36 weeks' gestation due to poor fetal growth. In addition to being small for gestational age, she had total situs inversus. On the first day of life, her blood glucose concentration was 145 mg/deciliter (8.1 mmol/liter), and on day 2 it was 300 mg/deciliter (17 mmol/liter), at which time treatment with insulin was started. Glycemic control was difficult to achieve, but there was no ketosis. Basal and glucagon-stimulated serum C-peptide concentrations were nearly undetectable on several occasions. Epilepsy developed at age 5 years, probably due to a neonatal brain abscess, and she subsequently had mild learning and behavioral difficulties. At age 15 years her glycemic response to glucagon was normal. Her sister developed typical type 1 diabetes at the age of 7 years. Both of her parents had glucose intolerance. The second patient was an Italian girl who had hyperglycemia and marked growth retardation at birth and who had been treated with insulin since birth. Basal serum C-peptide concentrations were low at birth, declined further with age, and did not increase in response to glucagon. Her mother had impaired fasting glycemia, and her father had impaired glucose tolerance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11372010" 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="Njolstad, P. R., Sagen, J. V., Bjorkhaug, L., Odili, S., Shehadeh N., Bakry, D., Sarici, S. U., Alpay, F., Molnes, J., Molven, A., Sovik, O., Matschinsky, F. M. <strong>Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.</strong> Diabetes 52: 2854-2860, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14578306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14578306</a>] [<a href="https://doi.org/10.2337/diabetes.52.11.2854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14578306">Njolstad et al. (2003)</a> described 3 additional cases of glucokinase-related permanent neonatal diabetes. All had intrauterine growth retardation (birth weight less than 1,900 g) and insulin-treated diabetes from birth. All of the mothers had been diagnosed with gestational diabetes and later diagnosed with either fasting hyperglycemia or diabetes treated with diet. The father in family 1 had mild diabetes treated with diet and the father in family 2 was discovered to have diabetes during the investigation of his affected son. The authors concluded that glucokinase deficiency may be regarded as a recessively inherited inborn error of metabolism, with heterozygous carriers having a mild phenotype (see MODY2, <a href="/entry/125851">125851</a>) and homozygous carriers associated with PNDM1 having a particularly severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14578306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of PNDM1 in the families reported by <a href="#3" class="mim-tip-reference" title="Njolstad, P. R., Sovik, O., Cuesta-Munoz, A., Bjorkhaug, L., Massa, O., Barbetti, F., Undlien, D. E., Shiota, C., Magnuson, M. A., Molven, A., Matschinsky, F. M., Bell, G. I. <strong>Neonatal diabetes mellitus due to complete glucokinase deficiency.</strong> New Eng. J. Med. 344: 1588-1592, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11372010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11372010</a>] [<a href="https://doi.org/10.1056/NEJM200105243442104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11372010">Njolstad et al. (2001)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11372010" 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="#5" class="mim-tip-reference" title="Turkkahraman, D., Bircan, I., Tribble, N. D., Akcurin, S., Ellard, S., Gloyn, A. L. <strong>Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.</strong> J. Pediat. 153: 122-126, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18571549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18571549</a>] [<a href="https://doi.org/10.1016/j.jpeds.2007.12.037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18571549">Turkkahraman et al. (2008)</a> evaluated the clinical response to sulfonylurea treatment in a 4-year-old Turkish boy with a homozygous T168A mutation in the GCK gene causing PNDM1. Oral glibenclamide was given over a 3-month period and was shown to be beneficial with a 12-fold increase of both basal and stimulated insulin secretion. Hemoglobin A1C levels were reduced from 9.4% to 8.1% on a reduced insulin dose (0.85 to 0.60 U/kg/day). During glibenclamide therapy, the mean fasting blood glucose (FBG) decreased compared to the FBG before initiation of the drug (189 mg/dl +/- 92 on treatment vs 227 mg/dl +/- 97 before treatment; p less than 0.05). However, postprandial glucose did not change significantly (184 mg/dl +/- 97 on treatment vs 192 mg/dl +/- 96; p = 0.79). The authors suggested that basal insulin secretion is improved with sulfonylurea therapy, but that as glucose levels increase during the postprandial period, the ATP generated by metabolism is insufficient for continued insulin granule docking and exocytosis, a situation in contrast with patients with PNDM2 (<a href="/entry/618856">618856</a>) caused by mutations in the KCNJ11 gene (<a href="/entry/600937">600937</a>). <a href="#5" class="mim-tip-reference" title="Turkkahraman, D., Bircan, I., Tribble, N. D., Akcurin, S., Ellard, S., Gloyn, A. L. <strong>Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.</strong> J. Pediat. 153: 122-126, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18571549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18571549</a>] [<a href="https://doi.org/10.1016/j.jpeds.2007.12.037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18571549">Turkkahraman et al. (2008)</a> concluded that it is possible that patients with GCK mutations causing a less severe phenotype may respond better to sulfonylureas than do those with mutations causing a more severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18571549" 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="#3" class="mim-tip-reference" title="Njolstad, P. R., Sovik, O., Cuesta-Munoz, A., Bjorkhaug, L., Massa, O., Barbetti, F., Undlien, D. E., Shiota, C., Magnuson, M. A., Molven, A., Matschinsky, F. M., Bell, G. I. <strong>Neonatal diabetes mellitus due to complete glucokinase deficiency.</strong> New Eng. J. Med. 344: 1588-1592, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11372010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11372010</a>] [<a href="https://doi.org/10.1056/NEJM200105243442104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11372010">Njolstad et al. (2001)</a> described 2 patients in whom complete deficiency of glucokinase caused permanent neonatal-onset diabetes mellitus. Both patients showed total absence of basal insulin release, and both had homozygous missense mutations in the GCK gene (<a href="/entry/138079#0010">138079.0010</a> and <a href="/entry/138079#0011">138079.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11372010" 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="Gloyn, A. L., Ellard, S., Shield, J. P., Temple, I. K., Mackay, D. J., Polak, M., Barrett, T., Hattersley, A. T. <strong>Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.</strong> Diabetologia 45: 290 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11942315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11942315</a>] [<a href="https://doi.org/10.1007/s00125-001-0746-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11942315">Gloyn et al. (2002)</a> concluded that complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11942315" 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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Gloyn, A. L., Ellard, S., Shield, J. P., Temple, I. K., Mackay, D. J., Polak, M., Barrett, T., Hattersley, A. T.
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<strong>Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.</strong>
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Diabetologia 45: 290 only, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11942315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11942315</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11942315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Njolstad, P. R., Sagen, J. V., Bjorkhaug, L., Odili, S., Shehadeh N., Bakry, D., Sarici, S. U., Alpay, F., Molnes, J., Molven, A., Sovik, O., Matschinsky, F. M.
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<strong>Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.</strong>
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Diabetes 52: 2854-2860, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14578306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14578306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14578306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Njolstad, P. R., Sovik, O., Cuesta-Munoz, A., Bjorkhaug, L., Massa, O., Barbetti, F., Undlien, D. E., Shiota, C., Magnuson, M. A., Molven, A., Matschinsky, F. M., Bell, G. I.
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<strong>Neonatal diabetes mellitus due to complete glucokinase deficiency.</strong>
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New Eng. J. Med. 344: 1588-1592, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11372010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11372010</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11372010" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Horm. Res. 53 (suppl. 1): 7-11, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10895036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10895036</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10895036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Turkkahraman, D., Bircan, I., Tribble, N. D., Akcurin, S., Ellard, S., Gloyn, A. L.
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<strong>Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.</strong>
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J. Pediat. 153: 122-126, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18571549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18571549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18571549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 11/14/2016<br>Marla J. F. O'Neill - updated : 2/15/2012<br>George E. Tiller - updated : 11/10/2011<br>Marla J. F. O'Neill - updated : 4/19/2010<br>John A. Phillips, III - updated : 5/23/2008<br>Cassandra L. Kniffin - updated : 3/27/2008<br>John A. Phillips, III - updated : 1/29/2008<br>John A. Phillips, III - updated : 1/29/2008<br>Cassandra L. Kniffin - updated : 3/2/2007<br>Marla J. F. O'Neill - updated : 8/11/2006<br>Marla J. F. O'Neill - updated : 8/11/2006<br>John A. Phillips, III - updated : 4/12/2005<br>Cassandra L. Kniffin - updated : 2/17/2005<br>Victor A. McKusick - updated : 12/7/2004<br>Victor A. McKusick - updated : 5/6/2004
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carol : 07/17/2020<br>carol : 05/01/2020<br>alopez : 04/30/2020<br>alopez : 11/14/2016<br>carol : 04/06/2016<br>carol : 10/1/2013<br>carol : 3/15/2013<br>terry : 6/7/2012<br>carol : 2/17/2012<br>carol : 2/15/2012<br>alopez : 11/15/2011<br>terry : 11/10/2011<br>alopez : 4/20/2010<br>terry : 4/19/2010<br>carol : 5/23/2008<br>wwang : 4/2/2008<br>ckniffin : 3/27/2008<br>carol : 1/29/2008<br>carol : 1/29/2008<br>wwang : 3/14/2007<br>ckniffin : 3/2/2007<br>carol : 9/5/2006<br>wwang : 8/16/2006<br>terry : 8/11/2006<br>carol : 8/11/2006<br>carol : 8/11/2006<br>carol : 8/11/2006<br>carol : 8/11/2006<br>wwang : 5/11/2005<br>wwang : 4/12/2005<br>carol : 2/17/2005<br>carol : 2/17/2005<br>ckniffin : 2/14/2005<br>carol : 2/14/2005<br>carol : 2/10/2005<br>alopez : 12/9/2004<br>alopez : 12/9/2004<br>terry : 12/7/2004<br>carol : 12/3/2004<br>carol : 12/3/2004<br>tkritzer : 12/3/2004<br>terry : 5/6/2004<br>terry : 6/27/2002<br>carol : 8/23/2001<br>carol : 8/23/2001
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<strong>ORPHA:</strong> 79134, 99885;
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<strong>DO:</strong> 0060639;
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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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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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7p13
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<span class="mim-font">
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Diabetes mellitus, permanent neonatal 1
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</td>
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<span class="mim-font">
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606176
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<span class="mim-font">
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Autosomal recessive
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</td>
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<span class="mim-font">
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3
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GCK
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<span class="mim-font">
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138079
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<p>A number sign (#) is used with this entry because of evidence that permanent neonatal diabetes mellitus-1 (PNDM1) is caused by homozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7p13.</p>
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<strong>Description</strong>
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<p>Permanent neonatal diabetes mellitus-1 (PNDM1) is a rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well (Njolstad et al., 2001). </p><p>PNDM is distinct from transient neonatal diabetes mellitus (TNDM; see 601410) and childhood-onset autoimmune diabetes mellitus type I (IDDM; 222100).</p><p><strong><em>Genetic Heterogeneity of Permanent Neonatal Diabetes Mellitus</em></strong></p><p>
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PNDM2 (618856) is caused by heterozygous mutation in the KCNJ11 (600937) gene on chromosome 11p15.1.</p><p>PNDM3 (618857) is caused by heterozygous or homozygous mutation in the ABCC8 (600509) gene on chromosome 11p15.1.</p><p>PNDM4 (618858) is caused by heterozygous or homozygous mutation in the INS (176730) gene on chromosome 11p15.5.</p><p>Pancreatic agenesis, which results in exocrine pancreatic deficiency as well as permanent neonatal-onset diabetes mellitus, can be caused by mutation in the PDX1 gene (600733). Pancreatic agenesis associated with cerebellar agenesis (609069) can be caused by mutation in the PTF1A gene (607194). Pancreatic agenesis associated with congenital cardiac defects (600001) can be caused by mutation in the GATA6 gene (601656).</p>
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<strong>Clinical Features</strong>
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<p>Njolstad et al. (2001) described 2 patients with permanent neonatal diabetes mellitus and complete deficiency of glucokinase. The first patient was a Norwegian girl, the child of first-cousin parents, who was delivered by cesarean section at 36 weeks' gestation due to poor fetal growth. In addition to being small for gestational age, she had total situs inversus. On the first day of life, her blood glucose concentration was 145 mg/deciliter (8.1 mmol/liter), and on day 2 it was 300 mg/deciliter (17 mmol/liter), at which time treatment with insulin was started. Glycemic control was difficult to achieve, but there was no ketosis. Basal and glucagon-stimulated serum C-peptide concentrations were nearly undetectable on several occasions. Epilepsy developed at age 5 years, probably due to a neonatal brain abscess, and she subsequently had mild learning and behavioral difficulties. At age 15 years her glycemic response to glucagon was normal. Her sister developed typical type 1 diabetes at the age of 7 years. Both of her parents had glucose intolerance. The second patient was an Italian girl who had hyperglycemia and marked growth retardation at birth and who had been treated with insulin since birth. Basal serum C-peptide concentrations were low at birth, declined further with age, and did not increase in response to glucagon. Her mother had impaired fasting glycemia, and her father had impaired glucose tolerance. </p><p>Njolstad et al. (2003) described 3 additional cases of glucokinase-related permanent neonatal diabetes. All had intrauterine growth retardation (birth weight less than 1,900 g) and insulin-treated diabetes from birth. All of the mothers had been diagnosed with gestational diabetes and later diagnosed with either fasting hyperglycemia or diabetes treated with diet. The father in family 1 had mild diabetes treated with diet and the father in family 2 was discovered to have diabetes during the investigation of his affected son. The authors concluded that glucokinase deficiency may be regarded as a recessively inherited inborn error of metabolism, with heterozygous carriers having a mild phenotype (see MODY2, 125851) and homozygous carriers associated with PNDM1 having a particularly severe phenotype. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of PNDM1 in the families reported by Njolstad et al. (2001) was consistent with autosomal recessive inheritance. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<span class="mim-text-font">
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<p>Turkkahraman et al. (2008) evaluated the clinical response to sulfonylurea treatment in a 4-year-old Turkish boy with a homozygous T168A mutation in the GCK gene causing PNDM1. Oral glibenclamide was given over a 3-month period and was shown to be beneficial with a 12-fold increase of both basal and stimulated insulin secretion. Hemoglobin A1C levels were reduced from 9.4% to 8.1% on a reduced insulin dose (0.85 to 0.60 U/kg/day). During glibenclamide therapy, the mean fasting blood glucose (FBG) decreased compared to the FBG before initiation of the drug (189 mg/dl +/- 92 on treatment vs 227 mg/dl +/- 97 before treatment; p less than 0.05). However, postprandial glucose did not change significantly (184 mg/dl +/- 97 on treatment vs 192 mg/dl +/- 96; p = 0.79). The authors suggested that basal insulin secretion is improved with sulfonylurea therapy, but that as glucose levels increase during the postprandial period, the ATP generated by metabolism is insufficient for continued insulin granule docking and exocytosis, a situation in contrast with patients with PNDM2 (618856) caused by mutations in the KCNJ11 gene (600937). Turkkahraman et al. (2008) concluded that it is possible that patients with GCK mutations causing a less severe phenotype may respond better to sulfonylureas than do those with mutations causing a more severe phenotype. </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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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Njolstad et al. (2001) described 2 patients in whom complete deficiency of glucokinase caused permanent neonatal-onset diabetes mellitus. Both patients showed total absence of basal insulin release, and both had homozygous missense mutations in the GCK gene (138079.0010 and 138079.0011). </p><p>Gloyn et al. (2002) concluded that complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. </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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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
|
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Shield (2000)
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Gloyn, A. L., Ellard, S., Shield, J. P., Temple, I. K., Mackay, D. J., Polak, M., Barrett, T., Hattersley, A. T.
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<strong>Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.</strong>
|
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Diabetologia 45: 290 only, 2002.
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[PubMed: 11942315]
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[Full Text: https://doi.org/10.1007/s00125-001-0746-9]
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<li>
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<p class="mim-text-font">
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Njolstad, P. R., Sagen, J. V., Bjorkhaug, L., Odili, S., Shehadeh N., Bakry, D., Sarici, S. U., Alpay, F., Molnes, J., Molven, A., Sovik, O., Matschinsky, F. M.
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<strong>Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.</strong>
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Diabetes 52: 2854-2860, 2003.
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[PubMed: 14578306]
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[Full Text: https://doi.org/10.2337/diabetes.52.11.2854]
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Njolstad, P. R., Sovik, O., Cuesta-Munoz, A., Bjorkhaug, L., Massa, O., Barbetti, F., Undlien, D. E., Shiota, C., Magnuson, M. A., Molven, A., Matschinsky, F. M., Bell, G. I.
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<strong>Neonatal diabetes mellitus due to complete glucokinase deficiency.</strong>
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New Eng. J. Med. 344: 1588-1592, 2001.
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[PubMed: 11372010]
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[Full Text: https://doi.org/10.1056/NEJM200105243442104]
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<li>
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<p class="mim-text-font">
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Shield, J. P. H.
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<strong>Neonatal diabetes: new insights into aetiology and implications.</strong>
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Horm. Res. 53 (suppl. 1): 7-11, 2000.
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[PubMed: 10895036]
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[Full Text: https://doi.org/10.1159/000053198]
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<li>
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<p class="mim-text-font">
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Turkkahraman, D., Bircan, I., Tribble, N. D., Akcurin, S., Ellard, S., Gloyn, A. L.
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<strong>Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.</strong>
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J. Pediat. 153: 122-126, 2008.
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[PubMed: 18571549]
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[Full Text: https://doi.org/10.1016/j.jpeds.2007.12.037]
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Kelly A. Przylepa - updated : 07/17/2020<br>Marla J. F. O'Neill - updated : 11/14/2016<br>Marla J. F. O'Neill - updated : 2/15/2012<br>George E. Tiller - updated : 11/10/2011<br>Marla J. F. O'Neill - updated : 4/19/2010<br>John A. Phillips, III - updated : 5/23/2008<br>Cassandra L. Kniffin - updated : 3/27/2008<br>John A. Phillips, III - updated : 1/29/2008<br>John A. Phillips, III - updated : 1/29/2008<br>Cassandra L. Kniffin - updated : 3/2/2007<br>Marla J. F. O'Neill - updated : 8/11/2006<br>Marla J. F. O'Neill - updated : 8/11/2006<br>John A. Phillips, III - updated : 4/12/2005<br>Cassandra L. Kniffin - updated : 2/17/2005<br>Victor A. McKusick - updated : 12/7/2004<br>Victor A. McKusick - updated : 5/6/2004
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</span>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 8/7/2001
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 12/01/2020<br>carol : 07/17/2020<br>carol : 05/01/2020<br>alopez : 04/30/2020<br>alopez : 11/14/2016<br>carol : 04/06/2016<br>carol : 10/1/2013<br>carol : 3/15/2013<br>terry : 6/7/2012<br>carol : 2/17/2012<br>carol : 2/15/2012<br>alopez : 11/15/2011<br>terry : 11/10/2011<br>alopez : 4/20/2010<br>terry : 4/19/2010<br>carol : 5/23/2008<br>wwang : 4/2/2008<br>ckniffin : 3/27/2008<br>carol : 1/29/2008<br>carol : 1/29/2008<br>wwang : 3/14/2007<br>ckniffin : 3/2/2007<br>carol : 9/5/2006<br>wwang : 8/16/2006<br>terry : 8/11/2006<br>carol : 8/11/2006<br>carol : 8/11/2006<br>carol : 8/11/2006<br>carol : 8/11/2006<br>wwang : 5/11/2005<br>wwang : 4/12/2005<br>carol : 2/17/2005<br>carol : 2/17/2005<br>ckniffin : 2/14/2005<br>carol : 2/14/2005<br>carol : 2/10/2005<br>alopez : 12/9/2004<br>alopez : 12/9/2004<br>terry : 12/7/2004<br>carol : 12/3/2004<br>carol : 12/3/2004<br>tkritzer : 12/3/2004<br>terry : 5/6/2004<br>terry : 6/27/2002<br>carol : 8/23/2001<br>carol : 8/23/2001
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Thank you in advance for your generous support, <br />
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