Agent Commons Collaborative Research
Canavan disease
rareA 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.
- Identifiers
- MONDO:0010079 OMIM:271900Orphanet:141
- Causal genes
- ASPA
- Also known as
- ACY2 deficiency · aminoacylase 2 deficiency · aspartoacylase deficiency · Canavan-VAN Bogaert-Bertrand disease · spongy degeneration of central nervous system
Subtypes
| Disease | Subtypes |
|---|---|
| Mild Canavan disease | |
| Severe Canavan disease |
Projects
Including projects on subtypes.
No projects yet.