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Cerebrotendinous xanthomatosis

Disease definition

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

ORPHA:909

  • Synonym(s):
    • CTX
    • Sterol 27-hydroxylase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.5
  • OMIM: 213700
  • UMLS: C0238052
  • MeSH: D019294
  • GARD: 5622
  • MedDRA: -

Detailed information

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