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Cerebrotendinous Xanthomatosis Summary

Description: An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27-hydroxylase. 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 Show All >>

Networked: 285 relevant articles (1 outcomes, 21 trials/studies) for this Disease

Key Drugs and Agents for Cerebrotendinous Xanthomatosis

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Sterols : 1 outcome 2 studies in 12 results : IBA
  2. Sitosterolemia : 1 outcome in 13 results : IBA
  3. Cholesterol : 4 studies in 65 results : IBA
  4. Cholestanol (Coprostanol) : 3 studies in 87 results : IBA
  5. Chenodeoxycholic Acid (Chenix) : 3 studies in 50 results : FDA 2
  6. Cholestanols : 3 studies in 16 results : IBA
  7. Cytochrome P-450 CYP27A1 (Cholestanetriol 26 Monooxygenase) : 2 studies in 70 results : IBA
  8. Bile Acids and Salts (Bile Acids) : 2 studies in 23 results : IBA
  9. Cholic Acid : 2 studies in 13 results : IBA
  10. Glucuronides : 2 studies in 6 results : IBA
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Diseases Related to Cerebrotendinous Xanthomatosis

  1. Atherosclerosis
  2. Rare Diseases (Rare Disease)
  3. Diabetes Mellitus
  4. Zellweger Syndrome (Zellweger's Syndrome)
  5. Neurodegenerative Diseases (Neurodegenerative Disease)
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Key Therapies for Cerebrotendinous Xanthomatosis

Efficacy Chart >>
  1. Aftercare (After-Treatment) : 1 study in 3 results
  2. Drug Therapy (Chemotherapy) : 1 study in 1 result
  3. Blood Component Removal (Apheresis) : 5 results
  4. Oral Administration : 5 results
  5. Liver Transplantation : 1 result
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