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GTR Home > Conditions/Phenotypes > Bile acid malabsorption, primary, 2

Bile acid malabsorption, primary, 2

Summary

Primary bile acid malabsorption-2 (PBAM2) is an autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease (Sultan et al., 2018). For discussion of genetic heterogeneity of primary bile acid malabsorption, see PBAM1 (613291). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OSTB, OSTBETA, PBAM2, SLC51A1BP, SLC51B
    Summary: SLC51 subunit beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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