dentatorubral-pallidoluysian atrophy
Information
- Disease name
- dentatorubral-pallidoluysian atrophy
- Disease ID
- DOID:0060162
- Description
- "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." [url:http\://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT06273150 | Recruiting | Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study | May 1, 2022 | April 2026 |
- Disase is a (Disease Ontology)
- DOID:1441
- Cross Reference ID (Disease Ontology)
- GARD:5643
- Cross Reference ID (Disease Ontology)
- MESH:D020191
- Cross Reference ID (Disease Ontology)
- MIM:125370
- Cross Reference ID (Disease Ontology)
- NCI:C122653
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:702422004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0751781
- Exact Synonym (Disease Ontology)
- DRPLA
- Exact Synonym (Disease Ontology)
- Haw River Syndrome
- Exact Synonym (Disease Ontology)
- Naito-Oyanagi disease