hyperinsulinemic hypoglycemia, familial, 3
A form of diffuse hyperinsulinism due to glucokinase hyperactivity associated with a variation in the GCK gene, and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals.
MONDO:0015624
diazoxide-sensitive diffuse hyperinsulinism
excluded_subClassOf
MONDO:0017688
disorder of glycolysis
is_a
MONDO:0019010
congenital isolated hyperinsulinism
is_a
GCK-related hyperinsulinism
exact
HHF3
exact
congenital glucokinase-related hyperinsulinism
exact
glucokinase-related hyperinsulinemic hypoglycemia
exact
hyperinsulinemic hypoglycemia familial 3
exact
hyperinsulinemic hypoglycemia, familial, 3
exact
hyperinsulinemic hypoglycemia, familial, type 3
exact
SPAC24H6.04 SPAC4F8.07c