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Acute intermittent porphyria

ORPHA:79276 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(5)

  • Abdominal painHP:0002027
  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Elevated urinary delta-aminolevulinic acidHP:0003163
  • Increased urinary porphobilinogenHP:0012217
  • PorphyrinuriaHP:0010473

Frequent (79-30%)(11)

  • Back painHP:0003418
  • ConstipationHP:0002019
  • Cranial nerve paralysisHP:0006824
  • HypertensionHP:0000822
  • Limb painHP:0009763
  • Mental deteriorationHP:0001268
  • Nausea and vomitingHP:0002017
  • Neck painHP:0030833
  • Peripheral neuropathyHP:0009830
  • Renal insufficiencyHP:0000083
  • TachycardiaHP:0001649

Occasional (29-5%)(28)

  • Abdominal distentionHP:0003270
  • AnxietyHP:0000739
  • Brain imaging abnormalityHP:0410263
  • ConfusionHP:0001289
  • Dark urineHP:0040319
  • DepressionHP:0000716
  • DiarrheaHP:0002014
  • Distal muscle weaknessHP:0002460
  • Excessive daytime somnolenceHP:0001262
  • FeverHP:0001945
  • HallucinationsHP:0000738
  • Hepatocellular carcinomaHP:0001402
  • HyponatremiaHP:0002902
  • IleusHP:0002595
  • InsomniaHP:0100785
  • Memory impairmentHP:0002354
  • Motor axonal neuropathyHP:0007002
  • Motor polyneuropathyHP:0007178
  • ParanoiaHP:0011999
  • Proximal lower limb muscle weaknessHP:0008994
  • Proximal upper limb muscle weaknessHP:0008997
  • Pseudobulbar paralysisHP:0007024
  • Respiratory insufficiencyHP:0002093
  • Respiratory paralysisHP:0002203
  • RestlessnessHP:0000711
  • SeizureHP:0001250
  • Somatic sensory dysfunctionHP:0003474
  • Weakness of muscles of respirationHP:0004347

Very rare (<4-1%)(6)

  • ComaHP:0001259
  • DysuriaHP:0100518
  • HyperhidrosisHP:0000975
  • TremorHP:0001337
  • Urinary incontinenceHP:0000020
  • Urinary retentionHP:0000016

Excluded (0%)(1)

  • Abnormal skin morphologyHP:0011121