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GTR Home > Conditions/Phenotypes > Congenital bile acid synthesis defect 6

Congenital bile acid synthesis defect 6

Summary

Congenital bile acid synthesis defect-6 (CBAS6) is characterized by persistent hypertransaminasemia and accumulation of C27 bile acids (summary by Alonso-Pena et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see CBAS1 (607765). [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCOX, BRCACOX, BRCOX, CBAS6, THCCox, ACOX2
    Summary: acyl-CoA oxidase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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