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GTR Home > Conditions/Phenotypes > Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss

Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss

Summary

Progressive intrahepatic cholestasis-7 with or without hearing loss (PFIC7) is an autosomal recessive liver disorder characterized by infantile-onset jaundice and itching associated with cholestasis, elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and normal gamma glutamyltransferase (GGT). Liver biopsy shows hepatocellular and canalicular cholestasis with fibrotic changes. Many patients have resolution of the liver abnormalities with age, although some may have persistent liver enzyme abnormalities or splenomegaly. A subset of patients develops hearing loss in childhood between early infancy and the teenage years. Rifampicin may be effective for pruritis (summary by Maddirevula et al., 2019). For a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: PFIC7, USP53
    Summary: ubiquitin specific peptidase 53

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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