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Mild phosphoribosylpyrophosphate synthetase superactivity

ORPHA:411536 · Clinical subtype · Subtype of disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(3)

  • HyperuricemiaHP:0002149
  • HyperuricosuriaHP:0003149
  • Increased phosphoribosylpyrophosphate synthetase levelHP:0003240

Frequent (79-30%)(3)

  • ArthritisHP:0001369
  • CrystalluriaHP:0020074
  • Uric acid nephrolithiasisHP:0000791

Occasional (29-5%)(3)

  • Acute kidney injuryHP:0001919
  • Renal insufficiencyHP:0000083
  • Stage 4 chronic kidney diseaseHP:0012626

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

  • Abnormality of the nervous systemHP:0000707

Excluded (0%)(5)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the eyeHP:0000478
  • Intellectual disabilityHP:0001249
  • Peripheral neuropathyHP:0009830
  • Sensorineural hearing impairmentHP:0000407