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HJV or HAMP-related hemochromatosis

ORPHA:79230 · Disease · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(4)

  • Abnormality of iron homeostasisHP:0011031
  • Congenital hepatic fibrosisHP:0002612
  • Elevated transferrin saturationHP:0012463
  • Increased circulating ferritin concentrationHP:0003281

Frequent (79-30%)(9)

  • ArthropathyHP:0003040
  • Diabetes mellitusHP:0000819
  • Dilated cardiomyopathyHP:0001644
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Generalized hyperpigmentationHP:0007440
  • HypogonadismHP:0000135
  • ImpotenceHP:0000802
  • LethargyHP:0001254
  • Muscle weaknessHP:0001324

Occasional (29-5%)(2)

  • Abnormality of endocrine pancreas physiologyHP:0012093
  • OsteoporosisHP:0000939