Maturity-onset diabetes of the young, type 11
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MODY11 |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
613375
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant 23869298 [IBIS] |
| Age of onset: |
Adolescent Adult 23869298 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
MODY syndrome
-Rare endocrine disease -Rare genetic disease |
Comment:
| Caused by a heterozygous mutation in the BLK gene (OMIM). |
Symptom Information:
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(HPO:0001513) | Obesity | 15111509 | IBIS | 172 / 7739 | ||
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(HPO:0006279) | Beta-cell dysfunction | 19667185 | IBIS | 5 / 7739 | ||
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(HPO:0004904) | Maturity-onset diabetes of the young | Very frequent [IBIS] | 23878349; 19667185 | IBIS | 17 / 7739 | |
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(HPO:0005978) | Type II diabetes mellitus | Very frequent [IBIS] | 23878349; 19667185; 23869298 | IBIS | 68 / 7739 | |
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(MedDRA:10052341) | Impaired insulin secretion | 19667185 | IBIS | 3 / 7739 |
Associated genes:
| BLK; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Molecular genetics OMIM |
Borowiec et al. (2009) resequenced all transcripts described in the linked 2.5-Mb interval on chromosome 8p23 in 2 diabetic members from each of 6 MODY families supporting linkage at this location and identified 5 sequence differences that cosegregated ... |