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Autosomal recessive hyperinsulinism due to SUR1 deficiency
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant 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 recessive hyperinsulinemic hypoglycemia due to SUR1 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
ABCC8 Q09428600509
No signs/symptoms info available.