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autosomal dominant hyperinsulinism due to SUR1 deficiency

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Autosomal dominant hyperinsulinism due to SUR1 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. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).
Mondo Term and Equivalent IDs
MONDO:0017184:  autosomal dominant hyperinsulinism due to SUR1 deficiency
Orphanet:276575: 
SCTID:717046003: 
UMLS:C4274080: 
UMLS:CN202625: