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autosomal dominant hyperinsulinism due to Kir6.2 deficiency

ORPHA: 276580

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with autosomal dominant hyperinsulinism due to Kir6.2 deficiency, sourced from HPO and Orphanet clinical annotations.

Hyperinsulinemic hypoglycemiaHyperinsulinemiaHypoketotic hypoglycemiaFasting hypoglycemiaIncreased C-peptide levelExcessive insulin response to glucagon testAgitationPallorEpisodic hyperhidrosisLarge for gestational ageTachycardiaPalpitationsHypoglycemic seizuresDrowsinessAbnormal oral glucose toleranceNeurodevelopmental abnormalityDiffuse pancreatic islet hyperplasiaLethargySyncopeMuscle weaknessHypoglycemic comaHypertrophic cardiomyopathyStatus epilepticusHepatomegalyPolyphagiaLoss of consciousnessFeeding difficultiesType I diabetes mellitus

Classification & Codes

Orphanet Code

ORPHA:276580
autosomal dominant hyperinsulinism due to Kir6.2 deficiency
OrphanetORPHA:276580
Treatments0 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO