DIABETES MELLITUS, INSULIN-DEPENDENT, 20
General Information (adopted from Orphanet):
| Synonyms, Signs: |
IDDM20 |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
612520
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0100651) | Type I diabetes mellitus | 9313763 | IBIS | 44 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Molecular genetics OMIM |
Yamada et al. (1997) screened the HNF1A gene for mutations in Japanese subjects with IDDM. Mutations were identified in 3 (5.5%) of the 55 unrelated subjects with IDDM (e.g., 142410.0001, 142410.0005, and 142410.0006). None of these mutations was ... |