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22 results
  1. ... development. Learn more about the gene associated with Canavan disease ASPA Inheritance This condition is inherited in an ... Testing Registry: Mild Canavan disease Genetic Testing Registry: Spongy degeneration of central nervous system Genetic and Rare Diseases Information Center Canavan disease ...
  2. Canavan disease is a condition that affects how the body breaks down and uses aspartic acid . ... Canavan disease is passed down (inherited) through families. It is more common among the Ashkenazi Jewish population than ...
  3. Leukodystrophies are rare diseases that affect the cells of the brain and are often genetic. Find more information on these progressive diseases. ... What ...
  4. ... cells (neurons). Health Conditions Related to Genetic Changes Canavan disease More than 80 mutations in the ASPA gene are known to cause Canavan disease, which is a rare inherited disorder that affects ...
  5. ... published></health-condition-summary><health-condition-summary ><name >Canavan disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  6. ... ACY1D, see Aminoacylase 1 deficiency ACY2 deficiency, see Canavan disease Acyl-CoA dehydrogenase 9 deficiency, see ACAD9 deficiency ... imperfecta Aminoacylase 1 deficiency Aminoacylase 2 deficiency, see Canavan disease Amish brittle hair syndrome, see Trichothiodystrophy Amish infantile ...
  7. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/canavan-disease</url><title >Canavan disease</title><other_names ><other_name >ACY2 deficiency</other_ ...
  8. ... nigricans Canale-Smith syndrome, see Autoimmune lymphoproliferative syndrome Canavan disease Canavan's disease, see Canavan disease Cancer family syndrome, ...
  9. ... Leukodystrophy, Metachromatic</descriptor></mesh-heading><mesh-heading ><descriptor >Canavan Disease</descriptor></mesh-heading><mesh-heading ><descriptor >Leukodystrophy, Globoid ...
  10. ... Scott et al [2010] , Lazarin et al [2013] Canavan disease AR ASPA c.854A>C p.Glu285Ala 83% ... Balamurugan K, Petrosky A, Michals K, Matalon R. Canavan disease: mutations among Jewish and non-Jewish patients. Am ...
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