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Oncogenic osteomalacia

ORPHA:352540 · Disease · Disorder

HPO 表現型(共 35 項)

Very frequent (99-80%)(6)

  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • HyperphosphaturiaHP:0003109
  • HypophosphatemiaHP:0002148
  • Muscle weaknessHP:0001324
  • Pathologic fractureHP:0002756
  • Renal phosphate wastingHP:0000117

Frequent (79-30%)(9)

  • Abnormal circulating fibroblast growth factor 23 concentrationHP:6000489
  • Bone painHP:0002653
  • Bowing of the long bonesHP:0006487
  • Decreased circulating calcitriol concentrationHP:0012052
  • Increased susceptibility to fracturesHP:0002659
  • Neoplasm of the skeletal systemHP:0010622
  • NephrocalcinosisHP:0000121
  • OsteomalaciaHP:0002749
  • Proximal muscle weaknessHP:0003701

Occasional (29-5%)(18)

  • Abnormal femur morphologyHP:0002823
  • Abnormal fibula morphologyHP:0002991
  • Abnormal foot morphologyHP:0001760
  • Abnormal pelvis bone morphologyHP:0040163
  • Abnormality of the tarsal bonesHP:0001850
  • Fibrous dysplasia of the bonesHP:0010734
  • Gait disturbanceHP:0001288
  • Giant cell tumor of boneHP:0011847
  • Growth delayHP:0001510
  • HypocalcemiaHP:0002901
  • Hypophosphatemic ricketsHP:0004912
  • Kidney stoneHP:0000787
  • KyphosisHP:0002808
  • Neoplasm of head and neckHP:0012288
  • OsteosarcomaHP:0002669
  • Pectus carinatumHP:0000768
  • Respiratory insufficiencyHP:0002093
  • Tibial bowingHP:0002982

Very rare (<4-1%)(2)

  • Abnormal vertebral morphologyHP:0003468
  • CarcinomaHP:0030731