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