BabelNet

bn:03371829n

Noun Concept

Categories: Demyelinating diseases of CNS, Lipid storage disorders, Neurological disorders in children, Ashkenazi Jews topics, Leukodystrophies

Canavan disease Spongy degeneration of central nervous system Acy2 Deficiency Aminoacylase 2 deficiency Asp Deficiency

Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. Wikipedia

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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 Wikidata

IS A

rare disease

dominance

leukodystrophy

neurometabolic disease

autosomal recessive disease

GENETIC ASSOCIATION

aspartoacylase

HEALTH SPECIALTY

neurology

endocrinology

NAMED AFTER