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Severe phosphoribosylpyrophosphate synthetase superactivity

ORPHA:411543 · Clinical subtype · Subtype of disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(5)

  • GoutHP:0001997
  • HyperuricemiaHP:0002149
  • Increased phosphoribosylpyrophosphate synthetase levelHP:0003240
  • Neurodevelopmental abnormalityHP:0012759
  • Uric acid nephrolithiasisHP:0000791

Frequent (79-30%)(8)

  • Abnormality of the nervous systemHP:0000707
  • ArthritisHP:0001369
  • CrystalluriaHP:0020074
  • HyperuricosuriaHP:0003149
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Renal insufficiencyHP:0000083
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(4)

  • Acute kidney injuryHP:0001919
  • AtaxiaHP:0001251
  • Motor polyneuropathyHP:0007178
  • Peripheral neuropathyHP:0009830

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

  • GlaucomaHP:0000501
  • Global developmental delayHP:0001263
  • MyopiaHP:0000545
  • Recurrent respiratory infectionsHP:0002205