FaCD Online Syndrome Fact Sheet

Last updated: 12 May 2009

Name: Byler disease

Synonym: PFIC-1, incl.: Byler syndrome, Progressive Familial Intrahepatic Cholestasis

Mode of Inheritance: AR

OMIM number: 211600  


FIC1/ATP8B1, mapped to 18q21

Tumor features

hepatocellular cancer (hepatoma)

Non-tumor features

intrahepatic cholestasis
liver cirrhosis


Byler disease is characterized by intrahepatic cholestasis with an onset in infancy, leading to hepatic fibrosis and death. It was originally described in an Amish kindred. A similar disorder in children who are not members of that kindred is referred to as Byler syndrome. Both disorders are a subtype of progressive familial intrahepatic cholestasis (another type is Alagille s.)[1,2]. Bull et al.[3] concluded that Byler syndrome is heterogenous from a clinicopathological point of view and is distinct from Byler disease (which has been linked to 18q).
Hepatocellular cancer may develop as complication of Byler disease/syndrome[4-5]


[1] Riely CA. Familial intrahepatic cholestatic syndromes. Semin Liver Dis 1987; 7(2):119-133.
[2] Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis.Orphanet J Rare Dis. 2009 Jan 8;4:1.
[3] Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, Setchell KD, Agostini RM, Jr., Kocoshis SA, Reyes J, Knisely AS. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 1997; 26(1):155-164.
[4] Quillin SP, Brink JA. Hepatoma complicating Byler disease [letter]. AJR Am J Roentgenol 1992; 159(2):432-433.
[5] Dahms BB. Hepatoma in familial cholestatic cirrhosis of childhood: its occurrence in twin brothers. Arch Pathol Lab Med 1979; 103(1):30-33.
[6] Ugarte N, Gonzalez-Crussi F. Hepatoma in siblings with progressive familial cholestatic cirrhosis of childhood. Am J Clin Pathol 1981; 76(2):172-177.