Clinical Utility Gene Card For: Progressive Familial Intrahepatic Cholestasis Type 1

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2013 Aug 29

PMID 23982690

Citations 1

Authors

Emmanuel Gonzales

Anne Spraul

Emmanuel Jacquemin

Affiliations

Soon will be listed here.

Citing Articles

Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.

Imagawa K, Hayashi H, Sabu Y, Tanikawa K, Fujishiro J, Kajikawa D J Hum Genet. 2018; 63(5):569-577.

PMID: 29507376 DOI: 10.1038/s10038-018-0431-1.

References

Strautnieks S, Bull L, Knisely A, Kocoshis S, Dahl N, Arnell H . A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998; 20(3):233-8. DOI: 10.1038/3034. View

Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A . Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol. 2010; 53(1):170-8. PMC: 3042805. DOI: 10.1016/j.jhep.2010.01.034. View

Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E . Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009; 4:1. PMC: 2647530. DOI: 10.1186/1750-1172-4-1. View

Bull L, Van Eijk M, Pawlikowska L, DeYoung J, Juijn J, Liao M . A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998; 18(3):219-24. DOI: 10.1038/ng0398-219. View

Lykavieris P, van Mil S, Cresteil D, Fabre M, Hadchouel M, Klomp L . Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol. 2003; 39(3):447-52. DOI: 10.1016/s0168-8278(03)00286-1. View

Klomp L, Bull L, Knisely A, van Der Doelen M, Juijn J, Berger R . A missense mutation in FIC1 is associated with greenland familial cholestasis. Hepatology. 2000; 32(6):1337-41. DOI: 10.1053/jhep.2000.20520. View

Jacquemin E, Hermans D, Myara A, Habes D, Debray D, Hadchouel M . Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology. 1997; 25(3):519-23. DOI: 10.1002/hep.510250303. View

Mullenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F . ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut. 2005; 54(6):829-34. PMC: 1774530. DOI: 10.1136/gut.2004.058115. View

Nicastro E, Stephenne X, Smets F, Fusaro F, de Magnee C, Reding R . Recovery of graft steatosis and protein-losing enteropathy after biliary diversion in a PFIC 1 liver transplanted child. Pediatr Transplant. 2011; 16(5):E177-82. DOI: 10.1111/j.1399-3046.2011.01514.x. View

10.

Paulusma C, Oude Elferink R, Jansen P . Progressive familial intrahepatic cholestasis type 1. Semin Liver Dis. 2010; 30(2):117-24. DOI: 10.1055/s-0030-1253221. View

11.

Pauli-Magnus C, Stieger B, Meier Y, Kullak-Ublick G, Meier P . Enterohepatic transport of bile salts and genetics of cholestasis. J Hepatol. 2005; 43(2):342-57. DOI: 10.1016/j.jhep.2005.03.017. View

12.

Bull L, Carlton V, Stricker N, Baharloo S, DeYoung J, Freimer N . Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology. 1997; 26(1):155-64. DOI: 10.1002/hep.510260121. View

13.

Stapelbroek J, van Erpecum K, Klomp L, Houwen R . Liver disease associated with canalicular transport defects: current and future therapies. J Hepatol. 2009; 52(2):258-71. DOI: 10.1016/j.jhep.2009.11.012. View

14.

van der Velden L, Stapelbroek J, Krieger E, van den Berghe P, Berger R, Verhulst P . Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate. Hepatology. 2009; 51(1):286-96. DOI: 10.1002/hep.23268. View

15.

Stapelbroek J, Peters T, van Beurden D, Curfs J, Joosten A, Beynon A . ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci U S A. 2009; 106(24):9709-14. PMC: 2700994. DOI: 10.1073/pnas.0807919106. View

16.

Jacquemin E, Malan V, Rio M, Davit-Spraul A, Cohen J, Landrieu P . Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr. 2010; 50(4):447-9. DOI: 10.1097/MPG.0b013e3181cd2725. View

17.

Gonzales E, Jacquemin E . Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future?. J Hepatol. 2010; 53(2):385-7. DOI: 10.1016/j.jhep.2010.03.012. View

18.

Paulusma C, Folmer D, Ho-Mok K, Rudi de Waart D, Hilarius P, Verhoeven A . ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. Hepatology. 2007; 47(1):268-78. DOI: 10.1002/hep.21950. View

19.

Klomp L, Vargas J, van Mil S, Pawlikowska L, Strautnieks S, van Eijk M . Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 2004; 40(1):27-38. DOI: 10.1002/hep.20285. View

20.

Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B . ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology. 2010; 51(5):1645-55. DOI: 10.1002/hep.23539. View