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Diseases

Genetic and Rare Diseases Information Center (GARD)

Canavan disease


Other Names for this Disease
  • ACY2 deficiency
  • Aminoacylase 2 deficiency
  • ASP deficiency
  • ASPA deficiency
  • Aspartoacylase deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain.[1] This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the fatty covering that insulates nerve fibers.[1][2] Canavan disease is caused by mutations in the ASPA gene and is inherited in an autosomal recessive pattern.[1][3] While it occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage, and among Saudi Arabians.[1][2][3]
 
Last updated: 5/14/2015

References

  1. Canavan disease. Genetics Home Reference (GHR). April 2015; http://ghr.nlm.nih.gov/condition/canavan-disease. Accessed 5/14/2015.
  2. NINDS Canavan Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 13, 2013; http://www.ninds.nih.gov/disorders/canavan/canavan.htm. Accessed 5/14/2015.
  3. Haldeman- Englert C. Canavan disease. MedlinePlus. October 29, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001586.htm. Accessed 5/14/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Canavan disease. 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.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Canavan disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ACY2 deficiency
  • Aminoacylase 2 deficiency
  • ASP deficiency
  • ASPA deficiency
  • Aspartoacylase deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.