LIPA, lipase A, lysosomal acid type, 3988

N. diseases: 130; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770407719
rs770407719
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0008384
Disease:
Cholesterol Ester Storage Disease 		0.010 GeneticVariation BEFREE A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease. 7773732 1995
dbSNP: rs770407719
rs770407719
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.010 GeneticVariation 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
dbSNP: rs771640357
rs771640357
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0024291
Disease:
Lymphohistiocytosis, Hemophagocytic 		0.010 GeneticVariation BEFREE To the best of our knowledge, this is the second Tunisian case of secondary HLH complicating lysosomal acid lipase deficiency related to a new homozygous mutation: c.966G>C (p.Gln322His). 31318819 2019
dbSNP: rs771640357
rs771640357
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		0.010 GeneticVariation BEFREE To the best of our knowledge, this is the second Tunisian case of secondary HLH complicating lysosomal acid lipase deficiency related to a new homozygous mutation: c.966G>C (p.Gln322His). 31318819 2019
dbSNP: rs771640357
rs771640357
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C2936797
Disease:
Acid cholesteryl ester hydrolase deficiency, type 2 		0.010 GeneticVariation BEFREE To the best of our knowledge, this is the second Tunisian case of secondary HLH complicating lysosomal acid lipase deficiency related to a new homozygous mutation: c.966G>C (p.Gln322His). 31318819 2019
dbSNP: rs267607218
rs267607218
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 8617513 1996
dbSNP: rs267607218
rs267607218
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Clinical Features of Lysosomal Acid Lipase Deficiency. 26252914 2015
dbSNP: rs267607218
rs267607218
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR The WD patients, all deceased before the first year of age, were homozygous for two novel mutations (c.299+1G>A and c.419G>A) or a mutation (c.796G>T) previously reported as compound heterozygosity in a CESD patient. 22227072 2012
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Permeability of gentamicin and polymyxin B into the inside of Bacillus subtilis spores. 2129132 1990
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 GeneticVariation CLINVAR Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 8894696 1996
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. 23424026 2013
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 GeneticVariation CLINVAR Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. 23583223 2013
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. 21291321 2011
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 8894696 1996
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 GeneticVariation CLINVAR Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. 11441129 2001
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740 1998
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 CausalMutation CLINVAR Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. 11441129 2001
dbSNP: rs587778878
rs587778878
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.710 GeneticVariation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740 1998
dbSNP: rs1554865206
rs1554865206
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 8617513 1996
dbSNP: rs1554865206
rs1554865206
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred. 8864960 1996
dbSNP: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. 22227072 2012
dbSNP: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. 7833918 1994
dbSNP: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740 1998
dbSNP: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype. 25620107 2015
dbSNP: rs1554865214
rs1554865214
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0043208
Disease:
Wolman Disease 		A 0.700 GeneticVariation CLINVAR Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 8894696 1996