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Hyperinsulinism due to HNF1A deficiency

Disease definition

Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

ORPHA:324575

Classification level: Disorder
  • Synonym(s):
    • Hyperinsulinemic hypoglycemia due to HNF1A deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E16.1
  • OMIM: -
  • UMLS: C4303475
  • MeSH: -
  • GARD: -
  • MedDRA: -

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

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.