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<title>
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Entry
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- #613370 - MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/613370"><strong>Clinical Synopsis</strong></a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(MATURITY-ONSET DIABETES OF THE YOUNG, TYPE) OR (INS)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8028&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK500456/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8789" 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/gene/ins" 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=613370[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=552" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111108" 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/613370" 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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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 609577006<br />
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<strong>ORPHA:</strong> 552<br />
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<strong>DO:</strong> 0111108<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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613370
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
|
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MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</thead>
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11p15.5
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Maturity-onset diabetes of the young, type 10
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<span class="mim-font">
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<a href="/entry/613370"> 613370 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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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<span class="mim-font">
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INS
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<a href="/entry/176730"> 176730 </a>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<strong> INHERITANCE </strong>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<strong> ENDOCRINE FEATURES </strong>
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- Diabetes mellitus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73211009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73211009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E08-E13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E08-E13</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">250</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011849&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011849</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span><br />
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- Diagnosed in second or third decade of life<br /> -
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Occasionally low-dose insulin required<br />
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- Caused by mutation in the insulin gene (INS, <a href="/entry/176730#0014">176730.0014</a>)<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 number sign (#) is used with this entry because this form of maturity-onset diabetes of the young (MODY10) is caused by heterozygous mutation in the INS gene (<a href="/entry/176730">176730</a>) on chromosome 11p15.5.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of MODY, see <a href="/entry/606391">606391</a>.</p>
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<p><a href="#1" class="mim-tip-reference" title="Edghill, E. L., Flanagan, S. E., Patch, A.-M., Boustred, C., Parrish, A., Shields, B., Shepherd, M. H., Hussain, K., Kapoor, R. R., Malecki, M., MacDonald, M. J., Stoy, J., Steiner, D. F., Philipson, L. H., Bell, G. I., Neonatal Diabetes International Collaborative Group, Hattersley, A. T., Ellard, S. <strong>Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.</strong> Diabetes 57: 1034-1042, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18162506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18162506</a>] [<a href="https://doi.org/10.2337/db07-1405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18162506">Edghill et al. (2008)</a> described a family with MODY who carried a heterozygous mutation in the INS gene. The proband, her mother, and her maternal grandmother were diagnosed with diabetes at 15, 15, and 65 years of age, respectively. They were nonobese and their diabetes was noninsulin-dependent. The proband was treated with diet alone for 10 years, then oral agents, before starting low-dose insulin; her mother was treated with diet for 40 years before starting oral agents; and her grandmother had been on diet for treatment in the 8 years since diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18162506" 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>The proband with MODY described by <a href="#2" class="mim-tip-reference" title="Molven, A., Ringdal, M., Nordbo, A. M., Raeder, H., Stoy, J., Lipkind, G. M., Steiner, D. F., Philipson, L. H., Bergmann, I., Aarskog, D., Undlien, D. E., Joner, G., Sovik, O., Norwegian Childhood Diabetes Study Group, Bell, G. I., Njolstad, P. R. <strong>Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.</strong> Diabetes 57: 1131-1135, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18192540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18192540</a>] [<a href="https://doi.org/10.2337/db07-1467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18192540">Molven et al. (2008)</a> was diagnosed with diabetes at 20 years of age. His father and a paternal aunt were diagnosed at 18 and 17 years of age, respectively, and his paternal grandmother was diagnosed at 24 years of age. The grandmother, who was deceased, was reportedly treated with insulin; the other 3 patients were primarily treated with diet. Twenty years after diagnosis an oral sulfonylurea was added to the father's regimen, and he was later treated with small doses of insulin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18192540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Edghill, E. L., Flanagan, S. E., Patch, A.-M., Boustred, C., Parrish, A., Shields, B., Shepherd, M. H., Hussain, K., Kapoor, R. R., Malecki, M., MacDonald, M. J., Stoy, J., Steiner, D. F., Philipson, L. H., Bell, G. I., Neonatal Diabetes International Collaborative Group, Hattersley, A. T., Ellard, S. <strong>Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.</strong> Diabetes 57: 1034-1042, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18162506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18162506</a>] [<a href="https://doi.org/10.2337/db07-1405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18162506">Edghill et al. (2008)</a> screened the INS gene in 296 probands with maturity-onset diabetes of the young (MODY) and identified heterozygosity for a missense mutation in the INS gene (R6C; <a href="/entry/176730#0014">176730.0014</a>) in 1 proband that was not found in 222 UK Caucasian controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18162506" 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="Molven, A., Ringdal, M., Nordbo, A. M., Raeder, H., Stoy, J., Lipkind, G. M., Steiner, D. F., Philipson, L. H., Bergmann, I., Aarskog, D., Undlien, D. E., Joner, G., Sovik, O., Norwegian Childhood Diabetes Study Group, Bell, G. I., Njolstad, P. R. <strong>Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.</strong> Diabetes 57: 1131-1135, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18192540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18192540</a>] [<a href="https://doi.org/10.2337/db07-1467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18192540">Molven et al. (2008)</a> analyzed the INS gene in 62 probands with MODY and 30 probands with suspected MODY from the Norwegian MODY registry, and identified a heterozygous missense mutation (R46Q; <a href="/entry/176730#0015">176730.0015</a>) in 1 of the 62 families fulfilling conventional MODY criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18192540" 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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Edghill, E. L., Flanagan, S. E., Patch, A.-M., Boustred, C., Parrish, A., Shields, B., Shepherd, M. H., Hussain, K., Kapoor, R. R., Malecki, M., MacDonald, M. J., Stoy, J., Steiner, D. F., Philipson, L. H., Bell, G. I., Neonatal Diabetes International Collaborative Group, Hattersley, A. T., Ellard, S.
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<strong>Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.</strong>
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Diabetes 57: 1034-1042, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18162506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18162506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18162506" 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/10.2337/db07-1405" target="_blank">Full Text</a>]
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Molven, A., Ringdal, M., Nordbo, A. M., Raeder, H., Stoy, J., Lipkind, G. M., Steiner, D. F., Philipson, L. H., Bergmann, I., Aarskog, D., Undlien, D. E., Joner, G., Sovik, O., Norwegian Childhood Diabetes Study Group, Bell, G. I., Njolstad, P. R.
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<strong>Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.</strong>
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Diabetes 57: 1131-1135, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18192540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18192540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18192540" 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/10.2337/db07-1467" target="_blank">Full Text</a>]
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Marla J. F. O'Neill : 4/20/2010
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terry : 12/03/2010
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alopez : 4/22/2010<br>alopez : 4/20/2010
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MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10
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<strong>SNOMEDCT:</strong> 609577006;
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<strong>ORPHA:</strong> 552;
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<strong>DO:</strong> 0111108;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Inheritance
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11p15.5
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Maturity-onset diabetes of the young, type 10
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613370
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Autosomal dominant
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3
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INS
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176730
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<p>A number sign (#) is used with this entry because this form of maturity-onset diabetes of the young (MODY10) is caused by heterozygous mutation in the INS gene (176730) on chromosome 11p15.5.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391.</p>
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<p>Edghill et al. (2008) described a family with MODY who carried a heterozygous mutation in the INS gene. The proband, her mother, and her maternal grandmother were diagnosed with diabetes at 15, 15, and 65 years of age, respectively. They were nonobese and their diabetes was noninsulin-dependent. The proband was treated with diet alone for 10 years, then oral agents, before starting low-dose insulin; her mother was treated with diet for 40 years before starting oral agents; and her grandmother had been on diet for treatment in the 8 years since diagnosis. </p><p>The proband with MODY described by Molven et al. (2008) was diagnosed with diabetes at 20 years of age. His father and a paternal aunt were diagnosed at 18 and 17 years of age, respectively, and his paternal grandmother was diagnosed at 24 years of age. The grandmother, who was deceased, was reportedly treated with insulin; the other 3 patients were primarily treated with diet. Twenty years after diagnosis an oral sulfonylurea was added to the father's regimen, and he was later treated with small doses of insulin. </p>
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<strong>Molecular Genetics</strong>
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<p>Edghill et al. (2008) screened the INS gene in 296 probands with maturity-onset diabetes of the young (MODY) and identified heterozygosity for a missense mutation in the INS gene (R6C; 176730.0014) in 1 proband that was not found in 222 UK Caucasian controls. </p><p>Molven et al. (2008) analyzed the INS gene in 62 probands with MODY and 30 probands with suspected MODY from the Norwegian MODY registry, and identified a heterozygous missense mutation (R46Q; 176730.0015) in 1 of the 62 families fulfilling conventional MODY criteria. </p>
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<strong>REFERENCES</strong>
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Edghill, E. L., Flanagan, S. E., Patch, A.-M., Boustred, C., Parrish, A., Shields, B., Shepherd, M. H., Hussain, K., Kapoor, R. R., Malecki, M., MacDonald, M. J., Stoy, J., Steiner, D. F., Philipson, L. H., Bell, G. I., Neonatal Diabetes International Collaborative Group, Hattersley, A. T., Ellard, S.
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<strong>Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.</strong>
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Diabetes 57: 1034-1042, 2008.
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[PubMed: 18162506]
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[Full Text: https://doi.org/10.2337/db07-1405]
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Molven, A., Ringdal, M., Nordbo, A. M., Raeder, H., Stoy, J., Lipkind, G. M., Steiner, D. F., Philipson, L. H., Bergmann, I., Aarskog, D., Undlien, D. E., Joner, G., Sovik, O., Norwegian Childhood Diabetes Study Group, Bell, G. I., Njolstad, P. R.
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<strong>Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.</strong>
|
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Diabetes 57: 1131-1135, 2008.
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[PubMed: 18192540]
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[Full Text: https://doi.org/10.2337/db07-1467]
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Creation Date:
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Marla J. F. O'Neill : 4/20/2010
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terry : 12/03/2010<br>alopez : 4/22/2010<br>alopez : 4/20/2010
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