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Genetic hyperferritinemia without iron overload

ORPHA:254704 · Biological anomaly · Disorder

HPO 表現型（共 8 項）

Obligate (100%)(1)

  • Increased circulating ferritin concentrationHP:0003281

Occasional (29-5%)(3)

  • ArthralgiaHP:0002829
  • FatigueHP:0012378
  • Fragile nailsHP:0001808

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

  • CataractHP:0000518

Excluded (0%)(3)

  • Abnormal circulating iron concentrationHP:0040130
  • Abnormal transferrin saturationHP:0040135
  • Elevated hepatic iron concentrationHP:0012465