Progressive familial intrahepatic cholestasis type 2

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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 May 2024

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Progressive familial intrahepatic cholestasis type 2?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Progressive Familial Intrahepatic Cholestasis Advocacy and Resource Network

Our mission is to improve the lives of patients and families worldwide affected by Progressive Familial Intrahepatic Cholestasis, (PFIC). We strive to equip patients and families with the educational and support resources they need to navigate life with a devastating disease, create a sense of community & hope for those affected by PFIC, and to support research that will one day lead to a cure.

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Clinical Trials

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