DISEASES

Disease-gene associations mined from literature

Human genes for familial hyperinsulinemic hypoglycemia 2

Familial hyperinsulinemic hypoglycemia 2 [DOID:0070218]

A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.

Synonyms:  familial hyperinsulinemic hypoglycemia 2,  DOID:0070218,  hereditary hyperinsulinemic hypoglycemia 2,  Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency,  HHF2 ...