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autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description 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 Term and Equivalent IDs
MONDO:0017185:  autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Orphanet:276580: 
SCTID:717045004: 
UMLS:C4274081: 
UMLS:CN202626: