Congenital bile acid synthesis defect 3

MONDO:0013439

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

Also known as: BASD3, CBAS3, CYP7B1 congenital bile acid synthesis defect, bile acid synthesis defect, congenital, type 3, congenital bile acid synthesis defect caused by mutation in CYP7B1, congenital bile acid synthesis defect type 3, oxysterol 7-alpha-hydroxylase deficiency, bile acid synthesis defect, congenital, 3

34 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inherited lipid metabolism disorder (165) Inborn errors of metabolism (42) Human disease (14) Disease of genetic or genomic mechanism (2) Congenital bile acid synthesis defect (1) CYP7B1-related disorder of oxysterol accumulation (0) Disease by developmental or physiological process (0)

Trials to join now! 15 Not yet recruiting 4 Not yet finished but already full! 3 Completed 12

Congenital bile acid synthesis defect 3

Broader categories

New vitamin supplements aim to make life easier for kids with rare metabolic disorders

Massive genetic study aims to unlock secrets of rare metabolic diseases

Study on COVID-19 and metabolic disorders pulled before it began