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Hereditary pheochromocytoma-paraganglioma

ORPHA:29072 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(3)

  • Adrenal pheochromocytomaHP:0006748
  • Extraadrenal pheochromocytomaHP:0006737
  • ParagangliomaHP:0002668

Frequent (79-30%)(28)

  • Cerebral hemorrhageHP:0001342
  • Chest painHP:0100749
  • DysphoniaHP:0001618
  • Elevated urinary dopamine levelHP:0011979
  • Elevated urinary epinephrine levelHP:0003639
  • Elevated urinary norepinephrine levelHP:0003345
  • Episodic abdominal painHP:0002574
  • Episodic hyperhidrosisHP:0001069
  • Episodic paroxysmal anxietyHP:0000740
  • FatigueHP:0012378
  • FlushingHP:0031284
  • Glomerular sclerosisHP:0000096
  • HypercalcemiaHP:0003072
  • HypertensionHP:0000822
  • Hypertension associated with pheochromocytomaHP:0002640
  • Hypertensive retinopathyHP:0001095
  • NauseaHP:0002018
  • Orthostatic hypotensionHP:0001278
  • PalpitationsHP:0001962
  • Paraganglioma of head and neckHP:0002864
  • Paroxysmal vertigoHP:0010532
  • Positive regitine blocking testHP:0003574
  • ProteinuriaHP:0000093
  • Pulsatile tinnitusHP:0008629
  • Recurrent paroxysmal headacheHP:0002331
  • Sinus tachycardiaHP:0011703
  • SyncopeHP:0001279
  • Weight lossHP:0001824

Occasional (29-5%)(19)

  • Abdominal massHP:0031500
  • Arachnoid hemangiomatosisHP:0012222
  • CardiomyopathyHP:0001638
  • Conductive hearing impairmentHP:0000405
  • Congestive heart failureHP:0001635
  • ConstipationHP:0002019
  • Cranial nerve compressionHP:0001293
  • Elevated circulating calcitonin concentrationHP:0003528
  • HematuriaHP:0000790
  • HyperglycemiaHP:0003074
  • Hypertensive crisisHP:0100735
  • MyocarditisHP:0012819
  • PallorHP:0000980
  • Panic attackHP:0025269
  • Renal cell carcinomaHP:0005584
  • Renal insufficiencyHP:0000083
  • Retinal capillary hemangiomaHP:0009711
  • TremorHP:0001337
  • Vocal cord paralysisHP:0001605

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

  • AniridiaHP:0000526