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Cerebrotendinous xanthomatosis

Other Names for this Disease
  • Cerebral cholesterinosis
  • CTX
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Cerebrotendinous xanthomatosis is a type of lipid storage disease. Symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, and surgery to remove cataracts.[1]
Last updated: 9/12/2013


  1. Federico A, Dotti MT, Gallus GN. Cerebrotendinous Xanthomatosis. GeneReviews. August 1, 2013; Accessed 9/12/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Cerebrotendinous xanthomatosis. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cerebrotendinous xanthomatosis. Click on the link to view a sample search on this topic.

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