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).


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: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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