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spinocerebellar ataxia type 1
Summary
- Definition
- An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.
- Super Class
- autosomal dominant cerebellar ataxia
External Links
- Disease Ontology
- DOID:0050954
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14756 | 17-beta-hydroxysteroid dehydrogenase type 6 | |
| P04040 | Catalase | |
| Q04760 | Lactoylglutathione lyase | |
| Q9NYP7 | Very long chain fatty acid elongase 5 |
