Cholesterol Ester Storage Disease

An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.

Year introduced: 1989

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Tree Number(s): C16.320.565.398.641.201, C16.320.565.595.201, C18.452.584.563.641.201, C18.452.648.398.641.201, C18.452.648.595.201

MeSH Unique ID: D015217

Entry Terms:

• Cholesteryl Ester Storage Disease

Previous Indexing:

• Cholesterol Esters (1978-1988)
• Lipase (1966-1988)
• Lipid Metabolism, Inborn Errors (1966-1988)
• Lipoidosis (1966-1988)

See Also:

• Sterol Esterase

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lipidoses
Cholesterol Ester Storage Disease
Wolman Disease

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Cholesterol Ester Storage Disease
Wolman Disease

All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lipidoses
Cholesterol Ester Storage Disease
Wolman Disease

All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lipidoses
Cholesterol Ester Storage Disease
Wolman Disease

All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Cholesterol Ester Storage Disease
Wolman Disease