KEGG   DISEASE: Cerebrotendinous xanthomatosis
Entry
H00151                      Disease                                

Name
Cerebrotendinous xanthomatosis;
Van Bogaert-Scherer-Epstein Disease
  Supergrp
Congenital bile acid synthesis defect [DS:H00628]
Xanthoma [DS:H01661]
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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00151  Cerebrotendinous xanthomatosis
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H00151  Cerebrotendinous xanthomatosis
Pathway
hsa00120  Primary bile acid biosynthesis
hsa03320  PPAR signaling pathway
Network
nt06022  Bile acid biosynthesis
  Element
N00808  CYP27A1 deficiency in bile acid biosynthesis
Gene
CYP27A1 [HSA:1593] [KO:K00488]
Other DBs
ICD-11: 5C52.11
ICD-10: E75.5
MeSH: D019294
OMIM: 213700
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)
DOI:10.1007/s10072-006-0618-7
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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