LIPA Chromosome 10
Lipase A, lysosomal acid type
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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 |
|---|---|---|---|
| RS121965086 | Health Risk | Pathogenic | Wolman disease, Lysosomal acid lipase deficiency, Cardiovascular phenotype |
| RS121965087 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS1226852302 | Health Risk | Pathogenic | — |
| RS1266530895 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS1408407724 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS1457072724 | Health Risk | Pathogenic | Lysosomal acid lipase deficiency, Wolman disease, Cholesteryl ester storage disease |
| RS1554865206 | Health Risk | Pathogenic | Wolman disease, Cholesteryl ester storage disease, Wolman disease |
| RS1554865576 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS1554866004 | Health Risk | Pathogenic | Cholesteryl ester storage disease, Wolman disease, Cholesteryl ester storage disease |
| RS1564751995 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS1564752665 | Health Risk | Pathogenic | — |
| RS1564754574 | Health Risk | Pathogenic | — |
| RS1564755287 | Health Risk | Pathogenic | — |
| RS1842794747 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2133412083 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2133413584 | Health Risk | Pathogenic | Wolman disease, Lysosomal acid lipase deficiency, Wolman disease |
| RS2133424815 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2133427073 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2133429402 | Health Risk | Pathogenic | Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS2133429569 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2133468040 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2495555897 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2495558424 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2495575151 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2495575175 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2495584620 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2495584725 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2495590932 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2495596213 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS2495648387 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS267607218 | Health Risk | Pathogenic | Lysosomal acid lipase deficiency, Wolman disease, Cholesteryl ester storage disease |
| RS587778878 | Health Risk | Pathogenic | Lysosomal acid lipase deficiency, Wolman disease, Cholesteryl ester storage disease |
| RS747508159 | Health Risk | Pathogenic | Cholesteryl ester storage disease, Wolman disease, Cholesteryl ester storage disease |
| RS756016704 | Health Risk | Pathogenic | Lysosomal acid lipase deficiency, Wolman disease, Cholesteryl ester storage disease |
| RS760413481 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS762143630 | Health Risk | Pathogenic | Wolman disease, Wolman disease |
| RS762559980 | Health Risk | Pathogenic | Wolman disease, Lysosomal acid lipase deficiency, Cholesteryl ester storage disease |
| RS767207643 | Health Risk | Pathogenic | Wolman disease, Lysosomal acid lipase deficiency, Cholesteryl ester storage disease |
| RS770074196 | Health Risk | Pathogenic | Lysosomal acid lipase deficiency, Wolman disease, Cholesteryl ester storage disease |
| RS771330022 | Health Risk | Pathogenic | Wolman disease, Cholesteryl ester storage disease, Lysosomal acid lipase deficiency |
| RS776472526 | Health Risk | Pathogenic | Lysosomal acid lipase deficiency, Wolman disease, Cholesteryl ester storage disease |
| RS779712562 | Health Risk | Pathogenic | Lysosomal acid lipase deficiency, Wolman disease, Cholesteryl ester storage disease |
| RS780495201 | Health Risk | Pathogenic | Wolman disease, Lysosomal acid lipase deficiency, Cholesteryl ester storage disease |
| RS116928232 | Health Risk | Pathogenic/Likely pathogenic | Lysosomal acid lipase deficiency, LIPA-related disorder, Wolman disease |
| RS1172318248 | Health Risk | Pathogenic/Likely pathogenic | Lysosomal acid lipase deficiency, Cholesteryl ester storage disease, Wolman disease |
| RS1410809018 | Health Risk | Pathogenic/Likely pathogenic | Wolman disease, Cholesteryl ester storage disease, Wolman disease |
| RS1423914418 | Health Risk | Pathogenic/Likely pathogenic | Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency |
| RS1446626293 | Health Risk | Pathogenic/Likely pathogenic | Lysosomal acid lipase deficiency, Wolman disease, Cholesteryl ester storage disease |
| RS1589558414 | Health Risk | Pathogenic/Likely pathogenic | Lysosomal acid lipase deficiency, Wolman disease, Lysosomal acid lipase deficiency |
| RS181646633 | Health Risk | Pathogenic/Likely pathogenic | Wolman disease, Cholesteryl ester storage disease, Wolman disease |