Congenital bile acid synthesis defect type 3

Orpha code: 79302OMIM code: 613812

Definition

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.

Disease data
Classification

Disease

Synonyms
BASD3
BASD3
Niedobór 7-alfa-hydroksylazy oksysterolowej
Oxysterol 7-alpha-hydroxylase deficiency
ORPHA code
79302
OMIM code
613812
ICD10 code
K76.8
ICD11 code
-

No additional description.

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