Canavan disease

Canavan disease

Definition

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.

Also known as ACY2 deficiency, aminoacylase 2 deficiency, aspartoacylase deficiency, Canavan disease, Canavan-VAN Bogaert-Bertrand disease, spongy degeneration of central nervous system, spongy degeneration of the brain — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0