autosomal dominant hyperinsulinism due to Kir6.2 deficiency
autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
exact
dominant KATP hyperinsulinism due to Kir6.2 deficiency
exact
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
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MONDO:0015624
diazoxide-sensitive diffuse hyperinsulinism
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