LIPA Chromosome 10

Lipase A, lysosomal acid type
161 variants 161 Health Risk

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What This Gene Does
This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
Lipases
Locus Type
gene with protein product
Location
10q23.31
Ensembl
ENSG00000107798
Associated Conditions (19)
Wolman disease
Cardiovascular phenotype
Lysosomal acid lipase deficiency
LIPA-related disorder
Cholesteryl ester storage disease
Malignant tumor of urinary bladder
Adrenocortical carcinoma
hereditary
Clear cell carcinoma of kidney
Sarcoma
Colon adenocarcinoma
Cholangiocarcinoma
Melanoma
Acute myeloid leukemia
Hepatocellular carcinoma
Lung cancer
Familial cancer of breast
Colorectal cancer
Ovarian serous cystadenocarcinoma
Key Variants
RS1011619050
Conflicting classifications of pathogenicity
Wolman disease, Cardiovascular phenotype, Lysosomal acid lipase deficiency
Health Risk
RS1314994550
Conflicting classifications of pathogenicity
Wolman disease, Wolman disease
Health Risk
RS1326903845
Conflicting classifications of pathogenicity
Lysosomal acid lipase deficiency, LIPA-related disorder, Lysosomal acid lipase deficiency
Health Risk
RS139282720
Conflicting classifications of pathogenicity
Wolman disease, Cardiovascular phenotype, Lysosomal acid lipase deficiency
Health Risk
RS139585872
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Wolman disease, Cardiovascular phenotype
Health Risk
RS140488274
Conflicting classifications of pathogenicity
Wolman disease, Wolman disease
Health Risk
RS140686447
Conflicting classifications of pathogenicity
Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency
Health Risk
RS1438679981
Conflicting classifications of pathogenicity
Lysosomal acid lipase deficiency, Wolman disease, LIPA-related disorder
Health Risk
RS143930279
Conflicting classifications of pathogenicity
Wolman disease, Lysosomal acid lipase deficiency, Cardiovascular phenotype
Health Risk
RS145066614
Conflicting classifications of pathogenicity
Wolman disease, Lysosomal acid lipase deficiency, Cardiovascular phenotype
Health Risk
RS145163592
Conflicting classifications of pathogenicity
Lysosomal acid lipase deficiency, Wolman disease, Cardiovascular phenotype
Health Risk
RS147426329
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Wolman disease, LIPA-related disorder
Health Risk
All Variants (161)
RSID Category Clinical Significance Conditions
RS1011619050 Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype, Lysosomal acid lipase deficiency
RS1314994550 Health Risk Conflicting classifications of pathogenicity Wolman disease, Wolman disease
RS1326903845 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, LIPA-related disorder, Lysosomal acid lipase deficiency
RS139282720 Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype, Lysosomal acid lipase deficiency
RS139585872 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Wolman disease, Cardiovascular phenotype
RS140488274 Health Risk Conflicting classifications of pathogenicity Wolman disease, Wolman disease
RS140686447 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency
RS1438679981 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, LIPA-related disorder
RS143930279 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, Cardiovascular phenotype
RS145066614 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, Cardiovascular phenotype
RS145163592 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Cardiovascular phenotype
RS147426329 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Wolman disease, LIPA-related disorder
RS147493628 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, Cardiovascular phenotype
RS1554865817 Health Risk Conflicting classifications of pathogenicity LIPA-related disorder, LIPA-related disorder
RS1564748504 Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype, LIPA-related disorder
RS1564748606 Health Risk Conflicting classifications of pathogenicity Wolman disease, Wolman disease
RS1589548972 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Cardiovascular phenotype
RS1589556901 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS1842600689 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency
RS199978109 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, Wolman disease
RS200186130 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, LIPA-related disorder
RS200420117 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, Cardiovascular phenotype
RS201603238 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Cardiovascular phenotype
RS2133436727 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency
RS2228159 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, LIPA-related disorder
RS2297472 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, LIPA-related disorder
RS367664486 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency
RS369755163 Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype, Wolman disease
RS371133960 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, Cardiovascular phenotype
RS375237841 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, Wolman disease
RS529668674 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Cardiovascular phenotype
RS534838107 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Cardiovascular phenotype
RS538507117 Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype, Wolman disease
RS544080483 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, LIPA-related disorder
RS550415126 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, Wolman disease
RS747214463 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency
RS749180806 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Cholesteryl ester storage disease
RS751625944 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency
RS756950169 Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype, Wolman disease
RS757920082 Health Risk Conflicting classifications of pathogenicity Wolman disease, LIPA-related disorder, Cardiovascular phenotype
RS758797771 Health Risk Conflicting classifications of pathogenicity Wolman disease, Wolman disease
RS762226885 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, Wolman disease
RS763651849 Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype, Lysosomal acid lipase deficiency
RS767688436 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency
RS768411839 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency, Wolman disease
RS771904218 Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency
RS779601441 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Wolman disease, Cardiovascular phenotype
RS780557919 Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype, Wolman disease
RS886044197 Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype, Lysosomal acid lipase deficiency
RS886047471 Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency, Wolman disease
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