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Heme oxygenase-1 deficiency

Disease definition

A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly.

ORPHA:562509

Classification level: Disorder
  • Synonym(s):
    • HO-1 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: -
  • OMIM: 614034
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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