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Paroxysmal nocturnal hemoglobinuria

ORPHA:447 · Disease · Disorder

HPO 表現型（共 44 項）

Obligate (100%)(1)

  • Abnormal erythrocyte enzyme concentration or activityHP:0030272

Very frequent (99-80%)(4)

  • AnemiaHP:0001903
  • AstheniaHP:0025406
  • HemoglobinuriaHP:0003641
  • Hemolytic anemiaHP:0001878

Frequent (79-30%)(17)

  • Chest painHP:0100749
  • Chronic kidney diseaseHP:0012622
  • Conjunctival icterusHP:0032106
  • Decreased circulating haptoglobin concentrationHP:0020181
  • Decreased circulating iron concentrationHP:0040303
  • Deep venous thrombosisHP:0002625
  • DyspneaHP:0002094
  • Episodic abdominal painHP:0002574
  • ErythromelalgiaHP:0032147
  • HeadacheHP:0002315
  • HemosiderinuriaHP:0012543
  • Increased blood urea nitrogenHP:0003138
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • ReticulocytosisHP:0001923
  • ThromboembolismHP:0001907
  • Unconjugated hyperbilirubinemiaHP:0008282
  • Venous thrombosisHP:0004936

Occasional (29-5%)(18)

  • Acute kidney injuryHP:0001919
  • Arterial thrombosisHP:0004420
  • Budd-Chiari syndromeHP:0002639
  • Decreased total leukocyte countHP:0001882
  • Erythroid hyperplasiaHP:0012132
  • HypertensionHP:0000822
  • ImpotenceHP:0000802
  • JaundiceHP:0000952
  • LethargyHP:0001254
  • Mesenteric venous thrombosisHP:0030248
  • Myocardial infarctionHP:0001658
  • OdynophagiaHP:0032043
  • PancytopeniaHP:0001876
  • ProteinuriaHP:0000093
  • Pulmonary embolismHP:0002204
  • Renal insufficiencyHP:0000083
  • StrokeHP:0001297
  • ThrombocytopeniaHP:0001873

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

  • DysphagiaHP:0002015
  • Esophageal spasmsHP:0025271
  • GlycosuriaHP:0003076
  • Renal Fanconi syndromeHP:0001994