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LIPA

Synonyms
CESD, LAL
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
3
Likely pathogenic
13
VUS
2,619
Likely benign
1,297
Benign
0

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on LIPA gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
56.3%
Abnormality of the eye
37.5%
Abnormality of the musculoskeletal system
37.5%
Abnormality of head or neck
31.3%
Abnormality of the ear
25%
Abnormality of limbs
18.8%
Abnormality of the integument
18.8%
Abnormality of the cardiovascular system
12.5%
Growth abnormality
12.5%
Abnormality of the digestive system
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of the genitourinary system
6.3%
Abnormality of the immune system
6.3%
Constitutional symptom
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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