|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.
|
8894696 |
1996 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Since the severely reduced LAL activity was seen in cells from an adult patient with a mild CESD, we conclude that there is no simple direct correlation between the LAL molecular lesions and the biochemical and clinical phenotypes.
|
9367797 |
1997 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD.
|
28502505 |
2018 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
|
19307143 |
2009 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sebelipase alfa (Kanuma<sup>®</sup>, Kanuma™), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D), an ultra-rare, autosomal recessive, progressive metabolic liver disease.
|
27878737 |
2016 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c.386A > G homozygous p.H129R).
|
31113597 |
2020 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The commonest genetic cause of cholesteryl ester storage disease is an exon 8 splice junction variant in the LIPA gene (rs116928232, c.894G>A; E8SJM) previously found to have an allele frequency of 0.0011 (1 in 450 individuals) in a large European population.
|
30056760 |
2019 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss-of-function mutations in LIPA, the gene that encodes LAL, result in Wolman disease (WD) or cholesteryl ester storage disease (CESD).
|
25450374 |
2014 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The complete absence of the lysosomal acid lipase (LAL) enzyme function causes Wolman's Disease that is fatal within the first six months of life.
|
22795295 |
2013 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Identification of rare diseases by screening a population selected on the basis of routine pathology results-the PATHFINDER project: lysosomal acid lipase/cholesteryl ester storage disease substudy.
|
29358478 |
2018 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
|
7833918 |
1994 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Since the residual LAL activity is higher and the clinical phenotype based on plasma lipid values and severity of hepatosplenomegaly is milder in this case than in a previously studied case who was homozygous for the E8SJM allele, we conclude that the L336P variant appears to be associated with a phenotypically mild form of CESD.
|
7773732 |
1995 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
|
9705237 |
1998 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations at the exon 8/intron 8 transition of the LAL gene have been identified in several CESD and WD patients and are responsible for the manifestation of the disease.
|
8864960 |
1996 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Meta-analysis of existing genetic studies estimated the prevalence of LAL-D as 1 per 160,000 (95% CI 1 per 65,025-761,652) using the allele frequency of c.894G>A in LIPA.
|
30315827 |
2019 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS).
|
29339442 |
2018 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In this study, we cloned rat LAL (RLAL) cDNA and investigated abnormal LAL gene expression in the Wolman rat.
|
8576647 |
1995 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wolman's disease is a rare autosomal recessive disease due to lysosomal acid lipase complete deficiency (McKusick 27.800).
|
2633108 |
1990 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency.
|
23403440 |
2013 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Lysosomal acid lipase (LAL) activity was measured using a new fluorometric assay in cultured skin fibroblasts from eight control subjects, two obligate heterozygotes for Wolman's disease (WD), one patient with WD, and one patient with cholesteryl ester storage disease (CESD).
|
10546 |
1976 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that ABCA1 regulation and activity are also impaired in cholesteryl ester storage disease (CESD), caused by mutations in the LIPA gene that result in less than 5% of normal lysosomal acid lipase (LAL) activity.
|
21757691 |
2011 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Lysosomal acid lipase (LAL) deficiency is a rare autosomal recessive disorder which causes two distinct clinical phenotypes: Wolman's disease and cholesterol ester storage disease.
|
24832708 |
2014 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study provides additional data on the features of childhood-onset LAL-D and describes two novel pathogenic variants of the LIPA gene.
|
28881270 |
2017 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified two LALD patients (one homozygous and one compound heterozygous) and one carrier of a novel LIPA variant.
|
31004967 |
2019 |