|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis (PFIC), types 1, 2 and 3, are due to defects in genes involved in bile secretion (FIC1, BSEP, MDR3).
|
22609295 |
2012 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
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 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The role of an ABCB4 gene defect in liver disease has been initially proven in a subtype of progressive familial intrahepatic cholestasis called PFIC3, a severe pediatric liver disease that may require liver transplantation.
|
20422496 |
2010 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a severe liver disorder associated with inherited dysfunction of multidrug resistance protein 3 (MDR3/ABCB4), which functions as a phospholipid floppase, translocating phosphatidylcholine from the inner to the outer hemileaflet of the canalicular membrane of hepatocytes.
|
26256905 |
2016 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, a deficiency in MDR3 messenger RNA (mRNA) has been reported in a subtype of progressive familial intrahepatic cholestasis.
|
9126799 |
1997 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Variations in the ABCB4 gene sequence cause progressive familial intrahepatic cholestasis type 3.
|
22184139 |
2012 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
ATP8B1 (FIC1), ABCB11 (BSEP), and ABCB4 (MDR3) are disrupted in forms of progressive familial intrahepatic cholestasis (PFIC) and related disorders.
|
15768832 |
2004 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The wide clinical spectrum of the ABCB4 gene (ATP-binding cassette subfamily B member 4) deficiency syndromes in humans includes low phospholipid-associated cholelithiasis (LPAC), intrahepatic cholestasis of pregnancy (ICP), oral contraceptives-induced cholestasis (CIC), and progressive familial intrahepatic cholestasis type 3 (PFIC3).
|
21989363 |
2012 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, ABCB4 variants do not only cause PFIC type 3 but confer an increased risk for chronic liver disease in general.
|
28757171 |
2018 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
|
21119540 |
2011 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The role of an MDR3 gene defect in liver disease was initially suspected in a subtype of progressive familial intrahepatic cholestasis called PFIC3.
|
11745043 |
2001 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
ABCB4 deficiency can result in altered PC to bile salt ratios, which led to intrahepatic cholestasis of pregnancy, low phospholipid associated cholelithiasis, drug induced liver injury or even progressive familial intrahepatic cholestasis type 3.
|
30730833 |
2019 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
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 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Defects in ABCB4 have been found to cause progressive familial intrahepatic cholestasis type 3.
|
21514256 |
2011 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.
|
19185004 |
2009 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
Itraconazole-induced cholestasis: involvement of the inhibition of bile canalicular phospholipid translocator MDR3/ABCB4.
|
21056966 |
2011 |
|
Cholestasis, progressive familial intrahepatic 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Defects of the phospholipid export pump MDR3 ( ABCC4) result in impaired biliary excretion of phosphatidylcholine and a variety of cholestatic syndromes ranging from progressive familial intrahepatic cholestasis in neonates to biliary cirrhosis in adults.
|
17295178 |
2007 |