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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Cholesterol Ester Storage Disease > Wolman Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Cholesterol Ester Storage Disease > Wolman Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Cholesterol Ester Storage Disease > Wolman Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Cholesterol Ester Storage Disease > Wolman Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Cholesterol Ester Storage Disease > Wolman Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Wolman Disease

Preferred term

Wolman Disease  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type
  • Acid Lipase Deficiencies
  • Acid Lipase Deficiency
  • Deficiencies, Acid Lipase
  • Deficiency, Acid Lipase
  • Disease, Wolman's
  • Familial Xanthomatoses
  • Familial Xanthomatosis
  • Lipase Deficiencies, Acid
  • Lipase Deficiency, Acid
  • Liposomal Acid Lipase Deficiency, Wolman Type
  • Wolman Disease with Hypolipoproteinemia and Acanthocytosis
  • Wolman's Disease
  • Wolmans Disease
  • Wolman's Xanthomatosis
  • Xanthomatoses, Familial
  • Xanthomatosis, Familial
  • Xanthomatosis, Wolman
  • Xanthomatosis, Wolman's
  • Xanthomatosis, Wolmans

Scope note

  • 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.

History note

  • 1989

In other languages

URI

http://www.yso.fi/onto/mesh/D015223

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