DisGeNET - a database of gene-disease associations

Wolman Disease, C0043208

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs939203331

UGT8

0.010

GeneticVariation

BEFREE

A further CESD patient was hemizygous for a His108-->Arg missense mutation (CAT-->CGT) in combination with a partial deletion of the LAL gene and was affected more severely.

9633819

1998

dbSNP:

rs1357012145

LIPF

0.010

GeneticVariation

BEFREE

DNA sequence and restriction fragment length polymorphism analysis demonstrated that the patient was a compound heterozygote for the prevalent CESD exon 8 splice site mutation (G934A) and the deletion of a C (nucleotide 673, 674, or 675) in exon 6 of the hLAL gene, resulting in premature termination of protein translation at residue 195.

10735626

2000

dbSNP:

rs775189464

LIPF

0.010

GeneticVariation

BEFREE

The only exception was a substitution at nucleotide 866 in the CESD case without an exon 8 splicing mutation; expression of the predicted S289C change in a transfection assay produced a low, but clearly measurable, level of acid esterase activity.

10562460

1999

dbSNP:

rs121965086

LIPA

0.800

GeneticVariation

CLINVAR

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

10562460

1999

dbSNP:

rs121965086

LIPA

0.800

CausalMutation

CLINVAR

Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.

7499245

1995

dbSNP:

rs121965086

LIPA

0.800

GeneticVariation

CLINVAR

Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

8617513

1996

dbSNP:

rs121965086

LIPA

0.800

GeneticVariation

CLINVAR

Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.

8146180

1994

dbSNP:

rs121965086

LIPA

0.800

GeneticVariation

UNIPROT

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.

9633819

1998

dbSNP:

rs121965086

LIPA

0.800

GeneticVariation

CLINVAR

Orthotopic liver transplantation in an adult with cholesterol ester storage disease.

23430518

2013

dbSNP:

rs121965086

LIPA

0.800

GeneticVariation

CLINVAR

Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.

7499245

1995

dbSNP:

rs121965086

LIPA

0.800

GeneticVariation

CLINVAR

Structural bases of Wolman disease and cholesteryl ester storage disease.

22138108

2012

dbSNP:

rs121965086

LIPA

0.800

GeneticVariation

CLINVAR

Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.

8598644

1995

dbSNP:

rs121965086

LIPA

0.800

GeneticVariation

UNIPROT

Sebelipase alfa: first global approval.

26452566

2015

dbSNP:

rs121965086

LIPA

0.800

CausalMutation

CLINVAR

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

10562460

1999

dbSNP:

rs121965086

LIPA

0.800

GeneticVariation

UNIPROT

Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.

8146180

1994

dbSNP:

rs116928232

LIPA

0.740

GeneticVariation

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

dbSNP:

rs116928232

LIPA

0.740

CausalMutation

CLINVAR

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

24072694

2013

dbSNP:

rs116928232

LIPA

0.740

CausalMutation

CLINVAR

A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.

8254026

1993

dbSNP:

rs116928232

LIPA

0.740

CausalMutation

CLINVAR

New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.

9684740

1998

dbSNP:

rs116928232

LIPA

0.740

CausalMutation

CLINVAR

The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients.

22227072

2012

dbSNP:

rs116928232

LIPA

0.740

GeneticVariation

CLINVAR

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

10562460

1999

dbSNP:

rs116928232

LIPA

0.740

GeneticVariation

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

dbSNP:

rs116928232

LIPA

0.740

GeneticVariation

CLINVAR

Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.

21757691

2011

dbSNP:

rs116928232

LIPA

0.740

CausalMutation

CLINVAR

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).

7759067

1995

dbSNP:

rs116928232

LIPA

0.740

GeneticVariation

BEFREE

Mutational analysis of the patient's blood showed the homozygous G-->A mutation at position -1 of the exon 8 splice donor site (E8SJM-allele) known for adult cholesteryl ester storage disease (CESD); the polymorphic background was that of the complex haplotype -6Thr, 2Gly, 894 G-->A.

10551400

1999