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Autosomal dominant hyperinsulinism due to SUR1 deficiency

Disease definition

A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 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.

ORPHA:276575

Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E16.1
  • OMIM: 256450
  • UMLS: C4274080
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2022) Français (2022) Nederlands (2022) Italiano (2015) Polski ()

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.