familial hyperinsulinemic hypoglycemia 5 (DOID:0070220)
Alliance: disease page
Synonyms: HHF5; hyperinsulinemic hypoglycemia due to INSR deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinism due to INSR deficiency
Alt IDs: OMIM:609968, ORDO:263458
Definition: 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.