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DEND syndrome
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
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
MODY syndrome
Permanent neonatal diabetes mellitus
Transient neonatal diabetes mellitus
Synonym(s):
- Developmental delay - epilepsy - neonatal diabetes
Classification (Orphanet):
(no data available)
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KCNJ11 Q14654600937
No signs/symptoms info available.