Congenital hyperinsulinism due to HNF4A deficiency

Orpha code: 263455OMIM code:

Definition

A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, 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).

Disease data
Classification

Disease

Synonyms
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
Hipoglikemia hiperinsulinemiczna z powodu niedoboru HNF4A
Wrodzony hiperinsulinizm z powodu niedoboru HNF4A
ORPHA code
263455
OMIM code
-
ICD10 code
E16.1
ICD11 code
-

No additional description.

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