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Autosomal dominant hyperinsulinism due to SUR1 deficiency
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
MODY syndrome
Permanent neonatal diabetes mellitus
Transient neonatal diabetes mellitus
Cataract-microcornea syndrome
Nuclear cataract
Pulverulent cataract
Synonym(s):
- Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
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 dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ABCC8 Q09428600509
No signs/symptoms info available.