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 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Bile acid imbalance causes progressive familial intrahepatic cholestasis type 2 (PFIC2) or type 3 (PFIC3), severe liver diseases associated with genetic defects in the biliary bile acid transporter bile salt export pump (BSEP; ABCB11) or phosphatidylcholine transporter multidrug resistance protein 3 (MDR3; ABCB4), respectively.
|
30416103 |
2019 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low γ-glutamyltransferase.
|
29316097 |
2018 |
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 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the gene for tight junction protein-2 (TJP2) has been linked to PFIC4.
|
29238877 |
2018 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2) is a rare cholestatic disorder diagnosed in infancy or childhood that can lead to severe hepatic fibrosis and liver failure.
|
28425419 |
2017 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
In summary, our findings suggest that residual function of BSEP as well as substrate specificity influence the therapeutic effectiveness of PEBD in progressive familial intrahepatic cholestasis type 2 (PFIC-2).
|
28839429 |
2017 |
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 |
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 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis type 2 (PFIC 2) results from mutations in ABCB11 gene coding bile salt export pump (BSEP).
|
26019043 |
2016 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis type 2 (PFIC-2) is caused by mutations in ABCB11, encoding the bile salt export pump (BSEP).
|
26516723 |
2016 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.
|
27239116 |
2016 |
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 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a result of mutations in ABCB11 encoding bile salt export pump (BSEP), the canalicular bile salt export pump of hepatocyte.
|
25716872 |
2015 |
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 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
As one type of inherited intrahepatic cholestasis, progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by pathogenic mutations in the ABCB11 gene, HRM was used to detect mutations in the ABCB11 gene in the present study, and the diagnosis for PFIC2 was made by comprehensive analysis of genetic findings and clinical features.
|
24969679 |
2014 |
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 |
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 |
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 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clinical phenotypes associated with BSEP mutations are commonly categorized as benign recurrent intrahepatic cholestasis (BRIC-2) or progressive familial intrahepatic cholestasis (PFIC-2).
|
23758865 |
2013 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis type 2 (PFIC2) results from recessive mutations in the adenosine triphosphate-binding cassette B11 gene, which encodes for bile salt export pump (BSEP).
|
24115678 |
2013 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genetic testing should also be considered, as mutations in the hepatobiliary transporters ATP8B1, ABCB11 and ABCB4 are causative for three different forms of familial intrahepatic cholestasis.
|
23797137 |
2013 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Such progressive familial intrahepatic cholestasis (PFIC) comes in three types of autosomal recessive disease.PFIC2 is caused by mutation to ABCB11.
|
21984474 |
2012 |
Progressive intrahepatic cholestasis (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is due to mutations in ABCB11 encoding the canalicular bile salt export pump (BSEP) of hepatocyte.
|
22609309 |
2012 |
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 |