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Congenital hyperinsulinism due to HNF4A deficiency

ORPHA:263455 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(21)

  • Abnormal circulating fatty acid concentrationHP:0004359
  • AgitationHP:0000713
  • ComaHP:0001259
  • DrowsinessHP:0002329
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Fasting hypoglycemiaHP:0003162
  • FatigueHP:0012378
  • HepatomegalyHP:0002240
  • HyperhidrosisHP:0000975
  • HyperinsulinemiaHP:0000842
  • Hyperinsulinemic hypoglycemiaHP:0000825
  • Hypoketotic hypoglycemiaHP:0001985
  • Increased body weightHP:0004324
  • Large for gestational ageHP:0001520
  • LethargyHP:0001254
  • Neonatal hypoglycemiaHP:0001998
  • Neonatal hypotoniaHP:0001319
  • PallorHP:0000980
  • Pancreatic islet-cell hyperplasiaHP:0004510
  • TachycardiaHP:0001649
  • TremorHP:0001337

Frequent (79-30%)(12)

  • DiarrheaHP:0002014
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • GlycosuriaHP:0003076
  • Hypophosphatemic ricketsHP:0004912
  • Increased hepatic glycogen contentHP:0006568
  • Intellectual disabilityHP:0001249
  • Metabolic ketoacidosisHP:0005979
  • Progressive neurologic deteriorationHP:0002344
  • ProteinuriaHP:0000093
  • Renal Fanconi syndromeHP:0001994
  • SeizureHP:0001250
  • VomitingHP:0002013