autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).
MONDO:0011153
hyperinsulinemic hypoglycemia, familial, 2
is_a
MONDO:0015624
diazoxide-sensitive diffuse hyperinsulinism
is_a
autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
exact
dominant KATP hyperinsulinism due to Kir6.2 deficiency
exact