Progressive familial intrahepatic cholestasis type 2

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Progressive familial intrahepatic cholestasis type 2

Synonyms: BSEP deficiency | PFIC2

Progressive familial intrahepatic cholestasis type 2 (PFIC2) a type of progressive familial intrahepatic cholestasis (PFIC see this term) is a severe neonatal hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially PFIC2 was reported under the name Byler syndrome.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

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Progressive familial intrahepatic cholestasis type 2?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.