DISEASES

Disease-gene associations mined from literature

Human genes for familial hyperinsulinemic hypoglycemia 1

Familial hyperinsulinemic hypoglycemia 1 [DOID:0070219]

A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15.

Synonyms:  familial hyperinsulinemic hypoglycemia 1,  DOID:0070219,  hereditary hyperinsulinemic hypoglycemia 1,  HHF1