Disease: Progressive intrahepatic cholestasis (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 Biomarker disease BEFREE MDR3 and BSEP liver immunostaining, and analysis of biliary lipid composition should help to select PFIC candidates for whom genotyping could be proposed to confirm the diagnosis. 23141890 2012
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 CausalMutation disease CLINVAR Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. 18395098 2008
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 AlteredExpression disease BEFREE We conclude that 4PB therapy would have a therapeutic effect in patients with progressive familial intrahepatic cholestasis type 2 who retain transport activity of BSEP per se. 24530123 2014
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE When examined in model cell lines, genetic mutations in the BSEP gene impair its targeting and transport function, contributing to the pathogenesis of progressive familial intrahepatic cholestasis type II (PFIC II). 18798335 2008
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 Biomarker disease BEFREE In progressive familial intrahepatic cholestasis type 2 (PFIC-2), severe steatorrhea is often documented. 16641580 2006
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE oligonucleotide array CGH identified intragenic exonic deletions in 2 cases: a heterozygous single-exon deletion of 4.5 kb in the SLC25A13 gene [solute carrier family 25, member 13 (citrin)] in an individual with citrin deficiency and a homozygous 10.5-kb deletion of exons 13-17 in the ABCB11 gene [PFIC2, ATP-binding cassette, sub-family B (MDR/TAP), member 11] in a patient with progressive familial intrahepatic cholestasis. 18487280 2008
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an autosomal recessive disease due to mutations in ABCB11. 25085279 2014
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 Biomarker disease BEFREE Mutation of the ABCB11 gene encoding BSEP induces BSEP deficiency and progressive familial intrahepatic cholestasis type 2 (PFIC2). 28150711 2017
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 Biomarker disease BEFREE Progressive familial intrahepatic cholestasis types 2 and 3 involve the canalicular bile salt export pump and a phospholipid translocase, respectively, both of which are fundamental to bile secretion. 15946126 2005
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding familial intrahepatic cholestasis 1 [FIC1]) or ABCB11 (encoding bile salt export pump [BSEP]). 20447715 2010
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive cholestatic diseases of childhood and represents the main indication for liver transplantation at this age; PFIC2 involves ABCB11 gene, that encodes the ATPdependent canalicular bile salt export pump (BSEP). 27493120 2017
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE Mutations of the bile salt export pump (BSEP) or the multidrug resistance P-glycoprotein 3 (MDR3) are linked to impaired bile salt homeostasis and lead to progressive familial intrahepatic cholestasis (PFIC)-2 and -3, respectively. 15841457 2005
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE Mutations in ABCB11, the gene encoding BSEP, induce progressive familial intrahepatic cholestasis type 2 (PFIC2), which presents with severe jaundice and liver dysfunction. 29507376 2018
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE We reviewed the explant livers of seven children with metabolic disorders [ornithine-transcarbamylase deficiency (one), coagulation factor VII deficiency (three), Crigler-Najjar syndrome (one), progressive familial intrahepatic cholestasis type 2 (PFIC-2) deficiency (two)] who received allograft hepatocytes by intraportal infusion with improvement in phenotype, although all later underwent liver transplantation (LT). 19364077 2008
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis. 19750581 2009
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 Biomarker disease BEFREE Mutations in BSEP are associated with cholestatic diseases such as progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), drug-induced cholestasis, and intrahepatic cholestasis of pregnancy. 23685087 2014
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE We report on NR1H4 analysis in eight patients with progressive familial intrahepatic cholestasis (PFIC) and in eight women with either ICP and/or drug-induced cholestasis (DIC) in whom no disease causing mutation in ATP8B1, ABCB11 and/or ABCB4 were found. 23142591 2012
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE Mutations in the gene encoding the canalicular bile salt export pump (BSEP) can result in progressive familial intrahepatic cholestasis type 2 (PFIC-2). 25847799 2015
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 Biomarker disease BEFREE Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis. 27239116 2016
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE Over 150 BSEP mutations are associated with progressive familial intrahepatic cholestasis type 2 (PFIC-2), with few characterised specifically. 27114171 2016
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 Biomarker disease BEFREE 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. 20232290 2010
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE ABCB11 gene mutations play an important role in Chinese patients with progressive intrahepatic cholestasis and low GGT. 19845854 2010
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 Biomarker disease BEFREE We report on the first case of a child with PFIC-2 suffering from repeated posttransplant recurrence of progressive intrahepatic cholestasis due to autoantibodies against BSEP. 19642168 2009
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 GeneticVariation disease BEFREE Additionally, rare monogenetic diseases exist which can be explained by absence of function or dysfunction of specific hepatic transporters, such as progressive familial intrahepatic cholestasis type 2 by genetic modifications in BSEP that lead to a loss of transporter function. 31004787 2020
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 Biomarker disease GENOMICS_ENGLAND