Disease: Cholestasis of pregnancy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 Biomarker disease CTD_human
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE The demonstration of a heterozygous missense mutation in the MDR3 gene in a patient with ICP with no known family history of PFIC, analysed by functional studies, is a novel finding. 10767346 2000
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 Biomarker disease BEFREE There is now strong evidence that in addition to PFIC3, an MDR3 defect can be involved in intrahepatic cholestasis of pregnancy and in cholesterol gallstone disease. 11745043 2001
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 Biomarker disease BEFREE For molecular genetic analysis, 16 individuals from two independently ascertained Finnish ICP families were genotyped for the flanking markers for BSEP, FIC1, and MDR3. 12801961 2003
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 AlteredExpression disease BEFREE MDR3 promoter activity of promoter constructs carrying different ICP-specific mutations was studied using reporter assays. 15077010 2004
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 Biomarker disease BEFREE Numerous studies have investigated the association of known cholestasis genes such as ABCB4 (also designated MDR3), ABCB11 ( BSEP) and ATP8B1 ( FIC1) with ICP. 15248112 2004
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 PosttranslationalModification disease BEFREE These three novel mutations add further information on the involvement of the MDR3 gene in intrahepatic cholestasis of pregnancy. 16696816 2006
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 Biomarker disease BEFREE The cause of ICP remains elusive, but there is evidence that mutations in the canalicular ABC transporter phospholipid flippase (MDR3) and in the bile salt export pump (BSEP) can predispose for the development of ICP. 16890614 2006
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE In contrast with ABCB11 haplotypes, ABCB4 haplotypes differed between the two groups (p = 0.019), showing that the severe form of cholestasis of pregnancy is associated with the ABCB4 gene variants. 16891356 2007
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE A Bayesian analysis involving MDR3, BSEP, FIC1 and an unknown locus gave a posterior probability of >0.9966 in favor of MDR3 as causative ICP locus. 17187437 2007
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE Moreover, MDR3 mutations predispose to cholestasis of pregnancy and drug-induced cholestasis. 17295178 2007
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE MDR3 gene variants in exons 14, 15 and 16 occurred in 7/96 of pregnant mothers with intrahepatic cholestasis of pregnancy (7.2%), and in none of 96 pregnant controls matched for age and parity. 18083082 2008
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 Biomarker disease BEFREE Serum bile acid and gamma-glutamyl transferase levels might help to distinguish ABCB4- and ABCB11-related forms of ICP and CIC. 18176959 2008
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE To investigate the role of the ABCB4 gene in Italian women with intrahepatic cholestasis of pregnancy and raised gamma-glutamyl transpeptidase by, analyzing the complete coding sequence and mRNA splicing products. 19261551 2009
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE In this prospective study, the entire ABCB4 gene coding sequence was analysed by DNA sequencing in 50 unrelated women with ICP defined by pruritus and raised serum alanine aminotransferase activity or bile acid concentration, with recovery after delivery. 19584064 2009
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 AlteredExpression disease BEFREE In addition, genetic variants (as well as mutants) of the genes coding for the phosphatidylcholine translocator MDR3 and BSEP and for the farnesoid X receptor, which is critical in the transcriptional activation of MDR3 ( ABCB4) and BSEP ( ABCB11) have been associated with intrahepatic cholestasis of pregnancy. 20422497 2010
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 Biomarker disease BEFREE Several mutations of ABCB4 have been identified, which cause cholestatic liver diseases of varying severity including progressive familial intrahepatic cholestasis type 3 (PFIC-3), intrahepatic cholestasis of pregnancy (ICP) and the low phospholipid associated cholelithiasis syndrome (LPAC). 21638239 2011
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 Biomarker disease BEFREE In clinical practice, a comprehensive ABCB4 alteration-screening algorithm will permit the use of ABCB4 genotyping to confirm the diagnosis of LPAC or ICP/CIC, and allow familial testing. 21989363 2012
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 SusceptibilityMutation disease ORPHANET Our data support the hypothesis of a significant involvement of ABCB4 mutations in the onset of ICP, but also confirm an important role for ABCB11 mutations in increasing the susceptibility to cholestasis of pregnancy. 23022423 2013
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE Our data support the hypothesis of a significant involvement of ABCB4 mutations in the onset of ICP, but also confirm an important role for ABCB11 mutations in increasing the susceptibility to cholestasis of pregnancy. 23022423 2013
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 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: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE The clinical features (age at onset, high prevalence in women, frequency and severity of acute and chronic complications, intrahepatic cholestasis of pregnancy [ICP]) were similar in the patients with or without ABCB4 gene sequence variation. 23533021 2013
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 Biomarker disease BEFREE We sought to expand our knowledge of the detailed genetic contribution to ICP by investigation of common variation around candidate loci with biological plausibility for a role in ICP (ABCB4, ABCB11, ABCC2, ATP8B1, NR1H4, and FGF19). 24366234 2014
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE To date, a number of studies have identified polymorphisms encoding biliary canalicular transporters, including those encoded by ABCB4 and ABCB11, which are associated with intrahepatic cholestasis of pregnancy. 24402531 2014
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.600 GeneticVariation disease BEFREE Novel heterozygous ABCB4 gene mutation causing recurrent first-trimester intrahepatic cholestasis of pregnancy. 25179380 2014