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GTR Home > Conditions/Phenotypes > Cholestasis, progressive familial intrahepatic, 5

Cholestasis, progressive familial intrahepatic, 5

Summary

Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600). [from OMIM]

Available tests

21 tests are in the database for this condition.

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Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAR, FXR, HRR-1, HRR1, PFIC5, RIP14, NR1H4
    Summary: nuclear receptor subfamily 1 group H member 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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