Wolman Disease
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
Year introduced: 1989
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Tree Number(s): C16.320.565.398.641.201.500, C16.320.565.595.201.500, C16.614.947, C18.452.584.563.641.201.500, C18.452.648.398.641.201.500, C18.452.648.595.201.500
MeSH Unique ID: D015223
Entry Terms:
- Disease, Wolman
- Liposomal Acid Lipase Deficiency, Wolman Type
- Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
- Wolman's Disease
- Disease, Wolman's
- Wolmans Disease
- Familial Xanthomatosis
- Familial Xanthomatoses
- Xanthomatoses, Familial
- Wolman Disease with Hypolipoproteinemia and Acanthocytosis
- Xanthomatosis, Familial
- Xanthomatosis, Wolman's
- Wolman's Xanthomatosis
- Xanthomatosis, Wolman
- Xanthomatosis, Wolmans
- Acid Lipase Deficiency
- Acid Lipase Deficiencies
- Deficiencies, Acid Lipase
- Deficiency, Acid Lipase
- Lipase Deficiencies, Acid
- Lipase Deficiency, Acid
- Lysosomal Acid Lipase Deficiency
- Cholesterol ester hydrolase deficiency
- LIPA Deficiency
- Deficiencies, LIPA
- Deficiency, LIPA
- LIPA Deficiencies
- LAL Deficiency
- Deficiencies, LAL
- Deficiency, LAL
- LAL Deficiencies
- Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
- Acid Lipase Disease
- Acid Lipase Diseases
- Disease, Acid Lipase
- Diseases, Acid Lipase
- Lipase Disease, Acid
- Lipase Diseases, Acid
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