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Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

ORPHA:276580 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(6)

  • Elevated circulating C-peptide concentrationHP:0030796
  • Excessive insulin response to glucagon testHP:0031084
  • Fasting hypoglycemiaHP:0003162
  • HyperinsulinemiaHP:0000842
  • Hyperinsulinemic hypoglycemiaHP:0000825
  • Hypoketotic hypoglycemiaHP:0001985

Frequent (79-30%)(11)

  • Abnormal oral glucose toleranceHP:0004924
  • AgitationHP:0000713
  • Diffuse pancreatic islet hyperplasiaHP:0031224
  • DrowsinessHP:0002329
  • Episodic hyperhidrosisHP:0001069
  • Hypoglycemic seizuresHP:0002173
  • Large for gestational ageHP:0001520
  • Neurodevelopmental abnormalityHP:0012759
  • PallorHP:0000980
  • PalpitationsHP:0001962
  • TachycardiaHP:0001649

Occasional (29-5%)(11)

  • Feeding difficultiesHP:0011968
  • HepatomegalyHP:0002240
  • Hypertrophic cardiomyopathyHP:0001639
  • Hypoglycemic comaHP:0001325
  • LethargyHP:0001254
  • Loss of consciousnessHP:0007185
  • Maternal diabetesHP:0009800
  • Muscle weaknessHP:0001324
  • PolyphagiaHP:0002591
  • Status epilepticusHP:0002133
  • SyncopeHP:0001279

Very rare (<4-1%)(1)

  • Type I diabetes mellitusHP:0100651