Maturity-onset diabetes of the young, type 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MODY3, HNF1A-MODY MODY, type 3 |
| Number of Symptoms | 12 |
| OrphanetNr: | |
| OMIM Id: |
600496
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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 Monogenic 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:
| Heterozygous mutations in the HNF1A gene encoding the transcription factor hepatocyte nuclear factor-1 alpha (HNF1A) cause autosomal dominant diabetes that is associated with long-term diabetic complications. Diabetes develops in HNF1A-MODY as a result of progressive failure of insulin secretion. Patients with HNF1A mutations show marked sensitivity to the oral hypoglycaemic agent sulphonylurea. HNF1A-MODY patients demonstrate a five-fold greater response to sulphonylurea than to standard metformin treatment (PMID:23878349). The HNF1A mutation is the most common form of MODY reported in studies from UK and from many European countries. A study from Argentina reported a prevalence of 10% in a group of clinically characterised MODY patients of Caucasian ethnicity (PMID:23869298). |
Symptom Information:
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(HPO:0001677) | Coronary artery disease | 23878349 | IBIS | 58 / 7739 | ||
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(HPO:0000488) | Retinopathy | 9562352 | IBIS | 75 / 7739 | ||
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(HPO:0003074) | Hyperglycemia | Very frequent [IBIS] | 23878349 | IBIS | 37 / 7739 | |
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(HPO:0003076) | Glycosuria | 23878349; 23869298; 15983330 | IBIS | 32 / 7739 | ||
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(HPO:0012184) | Hyperalphalipoproteinemia | 23878349 | IBIS | 3 / 7739 | ||
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(HPO:0012028) | Hepatocellular adenoma | Rare [IBIS] | 23869298 | IBIS | 6 / 7739 | |
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(HPO:0006274) | Reduced pancreatic beta cells | 23869298; 15983330 | IBIS | 2 / 7739 | ||
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(HPO:0012594) | Microalbuminuria | 9562352 | IBIS | 6 / 7739 | ||
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(HPO:0002597) | Abnormality of the vasculature | Frequent [IBIS] | 23878349; 23869298 | IBIS | 5 / 7739 | |
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(HPO:0004904) | Maturity-onset diabetes of the young | Very frequent [IBIS] | 23878349 | IBIS | 17 / 7739 | |
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(HPO:0005978) | Type II diabetes mellitus | Very frequent [IBIS] | 23878349 | IBIS | 68 / 7739 | |
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(OMIM) | Severe insulin secretory defect | Frequent [IBIS] | 23878349 | IBIS | 1 / 7739 |
Associated genes:
| HNF1A; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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