| Metadata | |
|---|---|
| ID | DOID:3613 |
| Name | Canavan disease |
| Definition | A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/2512436/, https://pubmed.ncbi.nlm.nih.gov/3354621/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:80544005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ACY2 DEFICIENCY [EXACT] AMINOACYLASE 2 DEFICIENCY [EXACT] ASP DEFICIENCY [EXACT] ASPA DEFICIENCY [EXACT] ASPARTOACYLASE DEFICIENCY [EXACT] CANAVAN-VAN BOGAERT-BERTRAND DISEASE [EXACT] Spongy degeneration of central nervous system [EXACT] |
| Parent Relationships |
is_a leukodystrophy |