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Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
DEND syndrome
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
MODY syndrome
Permanent neonatal diabetes mellitus
Transient neonatal diabetes mellitus
Synonym(s):
- Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KCNJ11 Q14654600937
No signs/symptoms info available.