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Diazoxide-resistant focal 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
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
DEND syndrome
MODY syndrome
Permanent neonatal diabetes mellitus
Transient neonatal diabetes mellitus
Synonym(s):
- Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KCNJ11 Q14654600937
No signs/symptoms info available.