LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 GeneticVariation disease BEFREE In humans, loss-of-function mutations of LIPA cause rare lysosomal disorders, Wolman disease and cholesteryl ester storage disease, in which LAL enzyme-replacement therapy has shown significant benefits in a phase 3 clinical trial. 30866656 2019
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 AlteredExpression disease BEFREE Rapidly progressive LAL deficient patients showed negligible enzymatic activity (<1%), whereas patients with childhood/adult LAL deficiency typically have 1-7% average activity. 31180157 2019
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 AlteredExpression disease BEFREE LAL activity in WBC is a validated tool for LAL-D diagnosis. 30684275 2019
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 Biomarker disease BEFREE Presently, a long-term enzyme replacement therapy with Sebelipase alfa, a recombinant human lysosomal acid lipase, is available for patients with LALD. 31249784 2019
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 GeneticVariation disease BEFREE The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency. 31230978 2019
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 GeneticVariation disease CLINVAR Lysosomal acid lipase deficiency in all siblings of the same parents. 28502515 2018
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 Biomarker disease BEFREE The essential role of LAL in lipid metabolism has been confirmed in human and mice with LAL deficiency. 29547398 2018
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 GeneticVariation disease BEFREE These include Wolman disease (WD) and Cholesteryl Ester Storage Disease (CESD) which both result from mutations in LIPA, the gene that encodes lysosomal acid lipase (LAL). 29246491 2018
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 GeneticVariation disease BEFREE An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c.1180_1184del" in the last exon (exon 10) of the lipase A (LIPA) gene. 28538091 2017
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 Biomarker disease BEFREE In 2015, regulatory agencies approved the use of a human recombinant LAL for the treatment of LALD. 28285817 2017
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
1.000 GeneticVariation disease BEFREE Loss-of-function mutations in LIPA, the gene encoding LAL, result in dramatic increases in tissue concentrations of EC, a hallmark feature of Wolman disease and cholesteryl ester storage disease (CESD). 28322747 2017
CUI: C0043208
Disease: Wolman Disease
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
CUI: C0043208
Disease: Wolman Disease
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