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Porphyria due to ALA dehydratase deficiency

ORPHA:100924 · Disease · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(1)

  • Abnormal circulating enzyme concentration or activityHP:0012379

Frequent (79-30%)(10)

  • Abdominal painHP:0002027
  • Abnormal circulating porphyrin concentrationHP:0010472
  • Abnormal erythrocyte enzyme concentration or activityHP:0030272
  • Abnormality of the nervous systemHP:0000707
  • Increased erythrocyte protoporphyrin concentrationHP:0012187
  • Increased fecal coproporphyrin 3HP:0033010
  • Increased urinary porphobilinogenHP:0012217
  • Muscle weaknessHP:0001324
  • Peripheral neuropathyHP:0009830
  • Purple urineHP:0040322

Occasional (29-5%)(31)

  • Abdominal distentionHP:0003270
  • Abnormal fear-induced behaviorHP:0100852
  • Abnormality of the respiratory systemHP:0002086
  • AgitationHP:0000713
  • Ankle flexion contractureHP:0006466
  • AnxietyHP:0000739
  • ApathyHP:0000741
  • AutismHP:0000717
  • ConfusionHP:0001289
  • ConstipationHP:0002019
  • DeliriumHP:0031258
  • DepressionHP:0000716
  • DiarrheaHP:0002014
  • DysarthriaHP:0001260
  • Episodic vomitingHP:0002572
  • Fluctuations in consciousnessHP:0007159
  • Functional motor deficitHP:0004302
  • Gait disturbanceHP:0001288
  • HallucinationsHP:0000738
  • Hearing impairmentHP:0000365
  • HyponatremiaHP:0002902
  • Limb muscle weaknessHP:0003690
  • Mild intellectual disabilityHP:0001256
  • Motor polyneuropathyHP:0007178
  • Myeloproliferative disorderHP:0005547
  • NauseaHP:0002018
  • PolyneuropathyHP:0001271
  • Respiratory insufficiencyHP:0002093
  • RestlessnessHP:0000711
  • Sensory neuropathyHP:0000763
  • Ventilator dependence with inability to weanHP:0005946

Excluded (0%)(1)

  • Abnormal skin morphologyHP:0011121