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GTR Home > Conditions/Phenotypes > Congenital bile acid synthesis defect 3

Congenital bile acid synthesis defect 3

Summary

Congenital bile acid synthesis defect-3 (CBAS3) is an autosomal recessive disorder characterized by prolonged jaundice after birth, hepatomegaly, conjugated hyperbilirubinemia, elevations in characteristic abnormal bile acids, and progressive intrahepatic cholestasis with liver fibrosis (summary by Setchell et al., 1998 and Ueki et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see 607765. [from OMIM]

Available tests

45 tests are in the database for this condition.

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Clinical tests (45 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CBAS3, CP7B, SPG5A, CYP7B1
    Summary: cytochrome P450 family 7 subfamily B member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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