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Canavan disease

Disease definition

Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.

ORPHA:141

  • Synonym(s):
    • ACY2 deficiency
    • Aminoacylase 2 deficiency
    • Aspartoacylase deficiency
    • Spongy degeneration of the brain
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: E75.2
  • OMIM: 271900
  • UMLS: C0206307  C3542499
  • MeSH: D017825
  • GARD: 5984
  • MedDRA: 10067608
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