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GTR Home > Conditions/Phenotypes > Congenital bile acid synthesis defect 4

Congenital bile acid synthesis defect 4

Synonyms
CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID; Cholestasis, intrahepatic, with defective conversion of; Trihydroxycoprostanic acid in bile; Trihydroxycoprostanic acid to cholic acid
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. [from ORDO]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMACRD, CBAS4, P504S, RACE, RM, AMACR
    Summary: alpha-methylacyl-CoA racemase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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