Maturity-onset diabetes of the young, type 13
General Information (adopted from Orphanet):
Synonyms, Signs:
|
MODY13
|
Number of Symptoms
|
2
|
OrphanetNr:
|
|
OMIM Id:
|
616329
|
ICD-10:
|
|
UMLs:
|
|
MeSH:
|
|
MedDRA:
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
Prevalence:
|
2
families
- PMID: 22701567, 15784703 [IBIS]
|
Inheritance:
|
Autosomal dominant
Monogenic
- PMID: 15784703 [IBIS]
|
Age of onset:
|
Adolescent
Adult [IBIS]
- PMID: 15784703 [IBIS]
|
Disease classification (adopted from Orphanet):
Parent Diseases:
|
MODY syndrome
-Rare endocrine disease
-Rare genetic disease
|
Comment:
Maturity-onset diabetes of the young-13 (MODY13) is caused by heterozygous mutation in the KCNJ11 gene (OMIM). |
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |