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Hereditary coproporphyria

ORPHA:79273 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(3)

  • Abdominal painHP:0002027
  • Abnormal circulating porphyrin concentrationHP:0010472
  • Elevated urinary delta-aminolevulinic acidHP:0003163

Frequent (79-30%)(11)

  • Abnormal skin morphologyHP:0011121
  • Atypical scarring of skinHP:0000987
  • Dark urineHP:0040319
  • Distal muscle weaknessHP:0002460
  • Episodic vomitingHP:0002572
  • Increased urinary porphobilinogenHP:0012217
  • Limb painHP:0009763
  • NauseaHP:0002018
  • PorphyrinuriaHP:0010473
  • Proximal lower limb muscle weaknessHP:0008994
  • Proximal upper limb muscle weaknessHP:0008997

Occasional (29-5%)(17)

  • Abnormal blistering of the skinHP:0008066
  • Back painHP:0003418
  • Cutaneous photosensitivityHP:0000992
  • Extension of hair growth on temples to lateral eyebrowHP:0005325
  • Facial hirsutismHP:0009937
  • Fragile skinHP:0001030
  • Hepatocellular carcinomaHP:0001402
  • HyponatremiaHP:0002902
  • Intrusion symptomHP:0032936
  • Long hairs growing from helix of pinnaHP:0008528
  • Motor polyneuropathyHP:0007178
  • NephropathyHP:0000112
  • PsychosisHP:0000709
  • Respiratory insufficiencyHP:0002093
  • SeizureHP:0001250
  • Small intestinal dysmotilityHP:0012850
  • TachycardiaHP:0001649

Excluded (0%)(2)

  • AnemiaHP:0001903
  • FeverHP:0001945