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Dopamine beta-hydroxylase deficiency

ORPHA:230 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(4)

  • Bilateral ptosisHP:0001488
  • Elevated urinary dopamine levelHP:0011979
  • Orthostatic hypotensionHP:0001278
  • RhinitisHP:0012384

Frequent (79-30%)(10)

  • AnemiaHP:0001903
  • Diminished deep tendon reflexHP:0001315
  • Elevated circulating creatinine concentrationHP:0003259
  • Exercise-induced muscle fatigueHP:0009020
  • FatigueHP:0012378
  • HypoglycemiaHP:0001943
  • Increased blood urea nitrogenHP:0003138
  • Retrograde ejaculationHP:0012877
  • Sleep disturbanceHP:0002360
  • SyncopeHP:0001279

Occasional (29-5%)(12)

  • Abnormal EKGHP:0003115
  • Blurred visionHP:0000622
  • Chest painHP:0100749
  • DehydrationHP:0001944
  • DiarrheaHP:0002014
  • DyspneaHP:0002094
  • HypothermiaHP:0002045
  • HypotoniaHP:0001252
  • NocturiaHP:0000017
  • Orthostatic syncopeHP:0012670
  • VertigoHP:0002321
  • VomitingHP:0002013

Very rare (<4-1%)(2)

  • HyperinsulinemiaHP:0000842
  • Insulin resistanceHP:0000855