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Severe congenital hypochromic anemia with ringed sideroblasts

ORPHA:300298 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(4)

  • AnemiaHP:0001903
  • Decreased transferrin saturationHP:0012464
  • Increased circulating ferritin concentrationHP:0003281
  • ReticulocytopeniaHP:0001896

Frequent (79-30%)(10)

  • Abnormality of the hypothalamus-pituitary axisHP:0000864
  • AnisopoikilocytosisHP:0004823
  • AzoospermiaHP:0000027
  • Decreased mean corpuscular volumeHP:0025066
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated circulating iron concentrationHP:0003452
  • Elevated hepatic iron concentrationHP:0012465
  • FatigueHP:0012378
  • HypogonadismHP:0000135
  • PallorHP:0000980

Occasional (29-5%)(6)

  • Adrenal insufficiencyHP:0000846
  • Cafe-au-lait spotHP:0000957
  • Dysplastic erythropoesisHP:0012134
  • Growth delayHP:0001510
  • HepatosplenomegalyHP:0001433
  • HypothyroidismHP:0000821