KEGG   DISEASE: H00151Help
Entry
H00151                      Disease                                

Name
Cerebrotendinous xanthomatosis;
Van Bogaert-Scherer-Epstein Disease
Description
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly the brain, the lens of the eye, and tendons.
Category
Inherited metabolic disease; Connective tissue disease
BRITE hierarchy
Pathway
Primary bile acid biosynthesis
PPAR signaling pathway
Gene
CYP27A1 [HSA:1593] [KO:K00488]
Drug
Chenix [DR:D00163]
Cholic acid [CPD:C00695]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Gallus GN, Dotti MT, Federico A
  Title
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
  Journal
Neurol Sci 27:143-9 (2006)
Reference
  Authors
Moghadasian MH
  Title
Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
  Journal
Clin Invest Med 27:42-50 (2004)

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