Heme oxygenase-1 deficiency

Orpha code: 562509OMIM code: 614034

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
HO-1 deficiency
HO-1 deficiency
Kod ORPHA
562509
Kod OMIM
614034
Kod ICD10
E88.8
Kod ICD11
-

No additional description.

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