DISEASES

Disease-gene associations mined from literature

Human genes for familial hyperinsulinemic hypoglycemia 5

Familial hyperinsulinemic hypoglycemia 5 [DOID:0070220]

A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13.

Synonyms:  familial hyperinsulinemic hypoglycemia 5,  DOID:0070220,  hereditary hyperinsulinemic hypoglycemia 5,  HHF5,  hyperinsulinemic hypoglycemia due to INSR deficiency ...