Cerebrotendinous Xanthomatosis

An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

Also Known As:

Xanthomatosis, Cerebrotendinous; Cerebral Cholesterinosis; Bogaert-Scherer-Epstein Disease, Van; Cerebral Cholesterinoses; Cerebrotendinous Xanthomatoses; Disease, Van Bogaert-Scherer-Epstein; Van Bogaert Scherer Epstein Disease; Xanthomatoses, Cerebrotendinous; Van Bogaert-Scherer-Epstein Disease

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Cerebrotendinous Xanthomatosis: 456
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Cerebrotendinous Xanthomatosis: 456
  - Lipid Metabolism Disorders: 898
    - Xanthomatosis: 1242
      - Cerebrotendinous Xanthomatosis: 456
    - Inborn Errors Lipid Metabolism
      - Cerebrotendinous Xanthomatosis: 456

Maria Theresa Dotti Selected Research

Maria Theresa Dotti Research Topics

Disease

Drug/Important Bio-Agent (IBA)