Hyperinsulinism due to HNF4A deficiency

MONDO:0016988

Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).

Also known as: hyperinsulinemic hypoglycemia due to HNF4A deficiency

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Digestive system disorder (160) Endocrine system disorder (72) Glucose metabolism disease (60) Inborn errors of metabolism (45) Pancreas disorder (38) Hyperinsulinism (31) Human disease (14)

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