|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cholesteryl ester storage disease and Wolman disease are rare autosomal recessive lipoprotein-processing disorders caused by mutations in the gene encoding human lysosomal acid lipase.
|
10627498 |
2000 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Wolman disease is a rare autosomal-recessive disorder caused by reduced levels of lysosomal acid lipase.
|
12666227 |
2003 |
|
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 |
Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry.
|
21291321 |
2011 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body.
|
23485521 |
2013 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cholesteryl ester storage disease (CESD) is an autosomal recessive lysosomal storage disorder caused by a variety of mutations of the LIPA gene.
|
23999269 |
2013 |
|
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
CESD is the result of partial loss of LAL and its presentation is more variable.
|
25345094 |
2014 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cholesteryl ester storage disease (CESD) is a rare autosomal recessive disease caused by mutations in LIPA.
|
25852113 |
2015 |
|
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 |
LAL deficiency (LAL D) presents and progresses as a continuum with dyslipidemia, hepatomegaly, and liver fibrosis.
|
26350820 |
2016 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL).
|
28659158 |
2017 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disease caused by mutations in the LIPA gene, located on the long arm of chromosome 10 (10q23.31).
|
31182375 |
2020 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Cholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13).
|
8598644 |
1995 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
LAL-D presents as a clinical continuum with two phenotypes: the infantile-onset phenotype, formally referred to as Wolman disease, and the later-onset phenotype, formerly referred to as cholesteryl ester storage disease.
|
28197978 |
2017 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
LAL activity (nmol/punch/h) was measured using the dried blood spot method and classified as LAL-D (<0.02), intermediate (0.02-0.37) or normal (> 0.37).
|
30540705 |
2019 |
|
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
LAL activity in WBC is a validated tool for LAL-D diagnosis.
|
30684275 |
2019 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 5' splice-region mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesteryl ester storage disease.
|
7751811 |
1995 |
|
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 |
CLINVAR |
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
|
7833918 |
1994 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
|
8864960 |
1996 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.
|
9554751 |
1998 |
|
Wolman Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.
|
9554751 |
1998 |