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GTR Home > Conditions/Phenotypes > Cholestasis, progressive familial intrahepatic, 10

Cholestasis, progressive familial intrahepatic, 10

Summary

Progressive familial intrahepatic cholestasis-10 (PFIC10) is an autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Features include jaundice, pruritis, and hepatomegaly associated with increased serum bilirubin and bile acids. Liver transaminases may be variably increased, but gamma-glutamyltransferase (GGT; see 612346) is normal. Liver biopsy shows hepatocellular and canalicular cholestasis with giant cell changes. Although rare patients may have episodes of diarrhea and even show endoscopic features of microvillus inclusion disease (MVID), this tends to be transient and cholestasis dominates the clinical picture (Gonzales et al., 2017; Cockar et al., 2020). For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DIAR2, MVID1, PFIC10, MYO5B
    Summary: myosin VB

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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