ZFIN Human Disease: Canavan disease

OBO ID: DOID:3613

Term Name:	Canavan disease		Search Ontology:
Synonyms:	ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system
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. (2)
References:	GARD:5984 MESH:D017825 NCI:C84611 OMIM:271900 SNOMEDCT_US_2023_03_01:80544005 UMLS_CUI:C0206307
Ontology:	Human Disease ( DOID:3613 )

Relationships

is a type of:	autosomal recessive disease leukodystrophy autosomal recessive disease leukodystrophy Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ASPA	aspa	Canavan disease	271900

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None