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dentatorubral-pallidoluysian atrophy
Summary
- Synonym
-
- DRPLA
- Haw River Syndrome
- Naito-Oyanagi disease
- Definition
- An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
- Super Class
- autosomal dominant cerebellar ataxia
External Links
- Disease Ontology
- DOID:0060162
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5211 | PFKL | phosphofructokinase, liver type | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 7957 | EPM2A | EPM2A glucan phosphatase, laforin | |
| 10715 | CERS1 | ceramide synthase 1 |
Related Glycoprotein
