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.
Newly diagnosed with
Progressive familial intrahepatic cholestasis type 2?
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Advocacy Organizations
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.
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
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).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.