Heme oxygenase-1 deficiency

Orpha code: 562509OMIM code: 614034

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.

Disease data
Classification

Disease

Synonyms
HO-1 deficiency
HO-1 deficiency
ORPHA code
562509
OMIM code
614034
ICD10 code
E88.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl