← 返回搜尋

Adenine phosphoribosyltransferase deficiency

ORPHA:976 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(1)

  • Abnormal circulating enzyme concentration or activityHP:0012379

Frequent (79-30%)(7)

  • Acute kidney injuryHP:0001919
  • Chronic kidney diseaseHP:0012622
  • DysuriaHP:0100518
  • HypertensionHP:0000822
  • Kidney stoneHP:0000787
  • ProteinuriaHP:0000093
  • Renal insufficiencyHP:0000083

Occasional (29-5%)(10)

  • Abdominal colicHP:0011848
  • Atrial fibrillationHP:0005110
  • Flank painHP:0030157
  • Macroscopic hematuriaHP:0012587
  • OliguriaHP:0100520
  • Recurrent urinary tract infectionsHP:0000010
  • Stage 5 chronic kidney diseaseHP:0003774
  • Uric acid nephrolithiasisHP:0000791
  • Urinary hesitancyHP:0000019
  • Urinary retentionHP:0000016