Variant: rs116928232

present in Gene: LIPA present in Chromosome: 10 Position on Chromosome: 89222511 Alleles of this Variant: C/G;T

rs116928232 in LIPA gene and Cholesterol Ester Storage Disease PMID 22227072 2012 Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

PMID 8254026 1993 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.

rs116928232 in LIPA gene and Wolman Disease PMID 24072694 2013 Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

PMID 9684740 1998 New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.

PMID 22227072 2012 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.

PMID 23485521 2013 Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

PMID 8254026 1993 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.

PMID 23424026 2013 Additionally, by surveying the available literature, c.894G>A was estimated to account for 60% (95% confidence interval [CI]: 51%-69%) of reported mutations among multiethnic CESD patients.

PMID 21757691 2011 Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.

PMID 7759067 1995 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).

PMID 8617513 1996 Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

PMID 10562460 1999 Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.