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Argininosuccinic aciduria

ORPHA:23 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(4)

  • AminoaciduriaHP:0003355
  • HyperammonemiaHP:0001987
  • HyperglutaminemiaHP:0003217
  • HypoargininemiaHP:0005961

Frequent (79-30%)(18)

  • Argininosuccinic aciduriaHP:0025630
  • AtaxiaHP:0001251
  • DrowsinessHP:0002329
  • EEG abnormalityHP:0002353
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated plasma citrullineHP:0011966
  • HepatomegalyHP:0002240
  • HypertensionHP:0000822
  • Increased circulating argininosuccinic acidHP:0032491
  • Intellectual disabilityHP:0001249
  • LethargyHP:0001254
  • MonilethrixHP:0032470
  • Neurodevelopmental delayHP:0012758
  • Respiratory alkalosisHP:0001950
  • SeizureHP:0001250
  • Specific learning disabilityHP:0001328
  • TachypneaHP:0002789
  • VomitingHP:0002013

Occasional (29-5%)(28)

  • Abnormal hair quantityHP:0011362
  • ArrhythmiaHP:0011675
  • Attention deficit hyperactivity disorderHP:0007018
  • Carious teethHP:0000670
  • Chronic pancreatitisHP:0006280
  • CirrhosisHP:0001394
  • Delayed speech and language developmentHP:0000750
  • DiarrheaHP:0002014
  • DystoniaHP:0001332
  • Eczematoid dermatitisHP:0000964
  • Focal T2 hyperintense basal ganglia lesionHP:0007183
  • Global brain atrophyHP:0002283
  • Hepatic failureHP:0001399
  • Hepatic fibrosisHP:0001395
  • HypertriglyceridemiaHP:0002155
  • HypokalemiaHP:0002900
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • OroticaciduriaHP:0003218
  • Patchy alopeciaHP:0002232
  • Periventricular leukomalaciaHP:0006970
  • Pili tortiHP:0003777
  • PsychosisHP:0000709
  • Renal insufficiencyHP:0000083
  • Self-mutilationHP:0000742
  • ThrombocytosisHP:0001894
  • TremorHP:0001337
  • Trichorrhexis nodosaHP:0009886

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

  • Hepatocellular carcinomaHP:0001402