Orphanet: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

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Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Disease definition

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).

ORPHA:276580

Classification level: Disorder

Synonym(s):
- Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
- Dominant KATP hyperinsulinism due to Kir6.2 deficiency
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
ICD-10: E16.1
OMIM: 601820
UMLS: C4274081
MeSH: -
GARD: -
MedDRA: -

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Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

ORPHA:276580

A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015)

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