|
Pancreatitis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Severely compromised LPL activity causes familial chylomicronemia syndrome (FCS), which is associated with very high plasma triglyceride levels and increased risk of life-threatening pancreatitis.
|
31645434 |
2020 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
She was a compound heterozygote for a p.G236Gfs*15 deletion and a p.G215E missense mutation at LPL, as was one sister with hypertriglyceridemia and pancreatitis during pregnancy.
|
30352774 |
2020 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neonatal hyperlipidemia with pancreatitis: Novel gene mutation of lipoprotein lipase.
|
30147083 |
2019 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Severe hypertriglyceridaemia and pancreatitis in a patient with lipoprotein lipase deficiency based on mutations in lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) genes.
|
30948399 |
2019 |
|
Pancreatitis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Familial chylomicronemia syndrome is a rare genetic disorder that is caused by loss of lipoprotein lipase activity and characterized by chylomicronemia and recurrent episodes of pancreatitis.There are no effective therapies.
|
31390500 |
2019 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Excessive circulating triglycerides due to reduction or loss of lipoprotein lipase activity contribute to hypertriglyceridemia and increased risk for pancreatitis.
|
29304082 |
2018 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Previously, a gene therapy approach to LPL-alipogene tiparvovec showed that direct targeting of LPL function reduced pancreatitis events.
|
29842811 |
2018 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Type 1 hyperlipoproteinemia is a rare autosomal recessive disorder most often caused by mutations in the lipoprotein lipase (LPL) gene resulting in severe hypertriglyceridemia and pancreatitis.
|
27578112 |
2017 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the underlying mechanism of gestational hypertriglyceridemic pancreatitis, we undertook DNA mutation analysis of the lipoprotein lipase (LPL), apolipoprotein C2 (APOC2), apolipoprotein A5 (APOA5), lipase maturation factor 1 (LMF1), and glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) genes in five unrelated pregnant Chinese women with severe hypertriglyceridemia and pancreatitis.
|
26079787 |
2015 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alipogene tiparvovec (Glybera®; AMT-011, AAV1-LPL(S447X)) is an adeno-associated virus serotype 1-based gene therapy for adult patients with familial lipoprotein lipase (LPL) deficiency (LPLD) and suffering from severe or multiple pancreatitis attacks despite dietary fat restrictions.
|
25559420 |
2015 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among moderate HTG patients, six patients (5.6%) were heterozygotes for rare LPL variants; two of them had suffered from pancreatitis.
|
25966443 |
2015 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis.
|
24646025 |
2014 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The LPL(S447X) gene variant, in an adeno-associated viral vector of serotype 1 (alipogene tiparvovec), was administered to 14 adult LPLD patients with a prior history of pancreatitis.
|
22717743 |
2013 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Homozygous lipoprotein lipase (LPL) deficiency is an ultra-orphan disease associated with increased rates of pancreatitis.
|
23126631 |
2013 |
|
Pancreatitis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In phase I/II and phase II/III clinical evaluations, alipogene tiparvovec significantly lowered plasma triglycerides and increased LPL activity, resulting in a reduction in plasma chylomicron and a decrease in the frequency of pancreatitis episodes.
|
23527320 |
2013 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lipoprotein lipase-deficient (LPLD) individuals display marked chylomicronemia and hypertriglyceridemia associated with increased pancreatitis risk.
|
22438229 |
2012 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Susceptibility to pancreatitis in LPL-deficient mice was compared with that of wild-type mice after intraperitoneal injections of caerulein by determination of amylase release and pancreatic pathological scores.
|
18936103 |
2009 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to determine the association of LPL and apo CII genes with acute attack of pancreatitis and chronic pancreatitis in patients with hyperlipidemic pancreatitis (HLP) and hypertriglyceridemia (HTG).
|
19034041 |
2009 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Primary defects in LPL and C-II are rare in survivors of acute hypertriglyceridaemic pancreatitis; lipase activity measurements should be restricted to those having their first episode during childhood.
|
19534808 |
2009 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
This patient suffered from acute pancreatitis, showed chylomicronemia and lacked detectable LPL activity or mass in her postheparin plasma.
|
17706445 |
2007 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lipoprotein lipase (LPL, triacylglycerol acylhydrolase; EC 3.1.1.3) deficiency (OMIM 238600) is an autosomal recessive inherited condition caused by mutations in the LPL gene, either in a homozygous or in a compound heterozygous state, leading to loss of lipolytic activity and resulting in severe hypertriglyceridaemia and subsequent risk for developing pancreatitis.
|
16972177 |
2006 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Lipoprotein lipase (LPL) deficiency is a rare, hereditary disorder of lipoprotein metabolism characterised by severely increased triglyceride levels, and associated with an increased risk for pancreatitis.
|
15719847 |
2005 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan.
|
12883259 |
2003 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we analyzed blood from a patient suffering from severe hypertriglyceridemia and pancreatitis with the mutation on the lipoprotein lipase gene, Ser(447)-Ter.
|
11412826 |
2001 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The findings suggest that, as well as a corn starch diet and dietary fat restriction, treatment of severe mixed hyperlipidaemia in GSD Ia and its attendant risk of pancreatitis should possibly involve fibrates that activate lipoprotein lipase and may enhance the clearance of IDL, rather than omega-3 fatty acids, which principally suppress hepatic secretion of VLDL.
|
11757580 |
2001 |