Synonyms
PFIC type 1 – Byler’s disease (Amish population), Greenland familial cholestasis (Inuit population), Byler’s syndrome (non-Amish population); PFIC type 2; PFIC type 3; Familial hypercholanemia; Aagenaes syndrome –Lymphedema-cholestasis syndrome
Definition and Characteristics
Autosomal recessive diseases characterized by progressive neonatal cholestasis and low serum gamma-glutamyltransferase activity (PFIC type 1 and type 2) or elevated serum gamma-glutamyltransferase activity (PFIC type 3). In Aagenaes syndrome serum GGT is normal, in familial hypercholanemia GGT may either be elevated or normal.
Prevalence
Rare.
Genes
PFIC type 1, FIC1/ATP8B1 on chromosome 18q21;
PFIC type 2, BSEP/ABCB11 on chromosome 2q24;
PFIC type 3, MDR3/ABCB4 on chromosome 7q21.1;
Congenital bile acid synthesis defects:
3β-Δ5;5-C27-hydroxysteroid oxidoreductase gene (HSD3B7) on chromosome 16p12-p11;
Δ4-3-oxosteroid-5β reductase gene on chromosome 7q32;
7α-hydroxylase gene (CYP7B1) on chromosome 8q21.
...
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Bull LN, Carlton VE, Stricker NL, Baharloo S, DeYoung JA, Freimer NB et al. (1997) Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 26(1):155–164
Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H et al. (1998) A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 20(3):233–238
Clayton PT, Leonard JV, Lawson AM, Setchell KD, Andersson S, Egestad B et al. (1987) Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. J Clin Invest 79(4):1031–1038
Deleuze JF, Jacquemin E, Dubuisson C, Cresteil D, Dumont M, Erlinger S et al. (1996) Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology 23(4):904–908
Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, Der Hagen CB et al. (2000) Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. Am J Hum Genet 67(4):994–999
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2009 Springer-Verlag GmbH Berlin Heidelberg
About this entry
Cite this entry
Jansen, P.L.M. (2009). Cholestasis, Progressive Familial Intrahepatic. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_328
Download citation
DOI: https://doi.org/10.1007/978-3-540-29676-8_328
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
eBook Packages: Biomedical and Life SciencesReference Module Biomedical and Life Sciences