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Imerslund-Gräsbeck syndrome

ORPHA:35858 · Disease · Disorder

HPO 表現型（共 30 項）

Obligate (100%)(3)

  • Abnormal circulating 5-methyltetrahydrofolate concentrationHP:0410216
  • Decreased circulating vitamin B12 concentrationHP:0100502
  • Malabsorption of Vitamin B12HP:0200118

Very frequent (99-80%)(3)

  • Hypersegmentation of neutrophil nucleiHP:0004821
  • Macrocytic anemiaHP:0001972
  • Megaloblastic anemiaHP:0001889

Frequent (79-30%)(7)

  • Abnormal hemoglobin concentrationHP:0020061
  • AnisopoikilocytosisHP:0004823
  • Decreased total neutrophil countHP:0001875
  • Oval macrocytosisHP:0032566
  • PallorHP:0000980
  • ProteinuriaHP:0000093
  • ReticulocytosisHP:0001923

Occasional (29-5%)(16)

  • Abnormal bleedingHP:0001892
  • Abnormality of the nervous systemHP:0000707
  • Angular cheilitisHP:0030318
  • ConstipationHP:0002019
  • Delayed ability to walkHP:0031936
  • Delayed speech and language developmentHP:0000750
  • Developmental regressionHP:0002376
  • Failure to thriveHP:0001508
  • GlossitisHP:0000206
  • HypotoniaHP:0001252
  • PancytopeniaHP:0001876
  • Poor appetiteHP:0004396
  • TachycardiaHP:0001649
  • ThrombocytopeniaHP:0001873
  • VomitingHP:0002013
  • Weight lossHP:0001824

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

  • ImmunodeficiencyHP:0002721