|
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 |
GeneticVariation
|
disease |
CLINVAR |
Lysosomal acid lipase deficiency in all siblings of the same parents.
|
28502515 |
2018 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
|
9684740 |
1998 |
|
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 |
CLINVAR |
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
|
10562460 |
1999 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
|
25624737 |
2015 |
|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.
|
11441129 |
2001 |
|
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 |
CLINVAR |
Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.
|
25620107 |
2015 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Cholesteryl ester storage disease: relationship between molecular defects and in situ activity of lysosomal acid lipase.
|
9367797 |
1997 |
|
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 |
CLINVAR |
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
|
8617513 |
1996 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.
|
21757691 |
2011 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
|
31180157 |
2019 |
|
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 |