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Variegate porphyria

ORPHA:79473 · Disease · Disorder

HPO 表現型（共 48 項）

Very frequent (99-80%)(5)

  • Abdominal painHP:0002027
  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Abnormal circulating porphyrin concentrationHP:0010472
  • Increased urinary porphobilinogenHP:0012217
  • PorphyrinuriaHP:0010473

Frequent (79-30%)(15)

  • Abnormal blistering of the skinHP:0008066
  • Abnormality of the nervous systemHP:0000707
  • AnxietyHP:0000739
  • Atypical behaviorHP:0000708
  • Back painHP:0003418
  • Chest painHP:0100749
  • ConstipationHP:0002019
  • Cutaneous photosensitivityHP:0000992
  • Elevated urinary delta-aminolevulinic acidHP:0003163
  • Motor polyneuropathyHP:0007178
  • Muscle weaknessHP:0001324
  • Proximal upper limb muscle weaknessHP:0008997
  • Skin erosionHP:0200041
  • Skin vesicleHP:0200037
  • TetraparesisHP:0002273

Occasional (29-5%)(21)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Hyperpigmentation of the skinHP:0000953
  • HyperreflexiaHP:0001347
  • HypertensionHP:0000822
  • HypertrichosisHP:0000998
  • HyponatremiaHP:0002902
  • Hypopigmentation of the skinHP:0001010
  • HyporeflexiaHP:0001265
  • IleusHP:0002595
  • Inappropriate antidiuretic hormone secretionHP:0031218
  • Localized skin lesionHP:0011355
  • MiliaHP:0001056
  • NauseaHP:0002018
  • Neurogenic bladderHP:0000011
  • Respiratory paralysisHP:0002203
  • ScarringHP:0100699
  • SeizureHP:0001250
  • Somatic sensory dysfunctionHP:0003474
  • TachycardiaHP:0001649
  • Thickened skinHP:0001072

Very rare (<4-1%)(7)

  • Abnormality of the liverHP:0001392
  • AnemiaHP:0001903
  • Chronic kidney diseaseHP:0012622
  • ComaHP:0001259
  • HallucinationsHP:0000738
  • Hepatocellular carcinomaHP:0001402
  • ParanoiaHP:0011999