Congenital bile acid synthesis defect type 1

Orpha code: 79301OMIM code: 607765

Definicja

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

Disease data
Klasyfikacja

Disease

Synonimy
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
BASD1
Niedobór oksydoreduktazy 3-beta-hydroksy-delta-5-C27-steroidowej
BASD1
Kod ORPHA
79301
Kod OMIM
607765
Kod ICD10
K76.8
Kod ICD11
-

No additional description.

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