About   Help   FAQ
Disease Ontology Browser
spinocerebellar ataxia with axonal neuropathy 2 (DOID:0050755)
Alliance: disease page
Synonyms: AOA2; ataxia with oculomotor apraxia type 2; autosomal recessive spinocerebellar ataxia 1; autosomal recessive spinocerebellar ataxia with axonal neuropathy 2; SCAN2; SCAR1; spinocerebellar ataxia with axonal neuropathy type 2
Alt IDs: OMIM:606002, ORDO:64753
Definition: An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory