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Heme oxygenase-1 deficiency

ORPHA:562509 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(5)

  • Hemolytic anemiaHP:0001878
  • HepatomegalyHP:0002240
  • HypobilirubinemiaHP:0033480
  • Increased circulating ferritin concentrationHP:0003281
  • Recurrent feverHP:0001954

Frequent (79-30%)(14)

  • AnemiaHP:0001903
  • AspleniaHP:0001746
  • Elevated circulating C-reactive protein concentrationHP:0011227
  • Elevated circulating D-dimer concentrationHP:0033106
  • Elevated circulating haptoglobin concentrationHP:0020180
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Growth delayHP:0001510
  • HyperlipidemiaHP:0003077
  • HypertensionHP:0000822
  • HypofibrinogenemiaHP:0011900
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • Increased total leukocyte countHP:0001974
  • ProteinuriaHP:0000093
  • ThrombocytosisHP:0001894

Occasional (29-5%)(9)

  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Depressed nasal bridgeHP:0005280
  • Frontal bossingHP:0002007
  • Howell-Jolly bodiesHP:0032550
  • Hypoplastic spleenHP:0006270
  • Intracranial hemorrhageHP:0002170
  • NephritisHP:0000123
  • Respiratory failureHP:0002878
  • SchistocytosisHP:0001981