Autosomal dominant hyperinsulinism due to SUR1 deficiency

Orpha code: 276575OMIM code: 256450

Definicja

A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to <i>ABCC8</i> variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.

Disease data
Klasyfikacja

Disease

Synonimy
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
Autosomalna dominująca hipoglikemia hiperinsulinemiczna z powodu niedoboru SUR1
Kod ORPHA
276575
Kod OMIM
256450
Kod ICD10
E16.1
Kod ICD11
-

No additional description.

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