|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare hepatic disease caused by genetic mutations of ABCB4.
|
27256251 |
2016 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
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 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
The patient presented at the age of 4 years with a history of severe pruritus, elevated serum gamma-glutamyltransferase and bile acid levels since several years suggesting the diagnosis of progressive familial intrahepatic cholestasis type 3 (PFIC-3) due to defects in MDR3.
|
22766396 |
2012 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The frequency of MDR3 mutations in patients with high GGT-PFIC is unclear.
|
11420418 |
2001 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis type 3 (PFIC3), for which there are limited therapeutic options, often leads to end-stage liver disease before adulthood due to impaired ABCB4-dependent phospholipid transport to bile.
|
30935993 |
2019 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the characterization of wild type MDR3 and the Q1174E mutant, which was identified previously in a patient with progressive familial intrahepatic cholestasis type 3 (PFIC-3).
|
25533467 |
2015 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
MDR3 and BSEP liver immunostaining, and analysis of biliary lipid composition should help to select PFIC candidates in whom genotyping could be proposed to confirm the diagnosis.
|
19133130 |
2009 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
|
24594635 |
2015 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Similarly PFIC type 3 is designated as ABCB4 deficiency.
|
20955958 |
2010 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Whereas rare mutations of this transporter were known to cause progressive familial intrahepatic cholestasis, the genome-wide association studies in Iceland find the common ABCB4 variant c.711A>T to be a general risk factor for elevated aminotransferases and higher impact variants to be potential determinants of early-onset gallstone disease, cholestasis of pregnancy, liver cirrhosis, and hepatobiliary cancer.
|
26410236 |
2015 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Adenosine triphosphate-binding cassette, subfamily B, member 4 (ABCB4) gene alterations can cause two distinct clinical entities: progressive familial intrahepatic cholestasis type 3 (PFIC3) and low phospholipid-associated cholelithiasis (LPAC).
|
19840255 |
2010 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Patients with this disease, Progressive Familial Intrahepatic Cholestasis (PFIC) type 3, have a mutation in the MDR3 gene, which is the human homologue of the murine Mdr2 gene.
|
10198778 |
1999 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Well-established phenotypes of ABCB4 deficit are: progressive familial intrahepatic cholestasis type 3, gallbladder disease 1 (syn. low phospholipid associated cholelithiasis syndrome), high ɣ-glutamyl transferase intrahepatic cholestasis of pregnancy, chronic cholangiopathy, and adult biliary fibrosis/cirrhosis.
|
31759867 |
2020 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
|
26474921 |
2016 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Several diseases including progressive familial intrahepatic cholestasis type 3 (PFIC3), low phospholipid-associated cholelithiasis (LPAC), a subgroup of patients developing intrahepatic cholestasis of pregnancy (ICP), drug-induced liver injury and chronic cholangiopathy with biliary fibrosis and cirrhosis were attributed to ABCB4 deficiency and characterized in the past decade.
|
30357767 |
2018 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
At least one third of the patients with a progressive familial intrahepatic cholestasis type 3 phenotype have a proven defect of MDR3.
|
11313315 |
2001 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
|
17726488 |
2007 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that mutations in the human MDR3 gene lead to progressive familial intrahepatic cholestasis with high serum gamma-GT.
|
9419367 |
1998 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
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 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
|
27075526 |
2016 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Among the hereditary human cholestasis, a subtype of progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase (GGT) serum activity shares histological, biochemical, and genetic features with mice lacking mdr2 gene expression (mdr2 -/- mice).
|
8666348 |
1996 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a chronic autosomal recessive disorder characterized by a wide spectrum of clinical severity generally related to the degree of pathogenicity of the causal sequence variation in ABCB4 gene.
|
30036524 |
2018 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3) is an autosomal-recessive liver disease due to mutations in the ABCB4 gene encoding for the MDR3 protein.
|
27788395 |
2016 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
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 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
ABCB4 deficiency, due to genetic variations, is responsible for progressive familial intrahepatic cholestasis type 3 (PFIC3) and other rare biliary diseases.
|
31040306 |
2019 |