Machado-Joseph disease
Information
- Disease name
- Machado-Joseph disease
- Disease ID
- DOID:1440
- Description
- "An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene." [url:http\://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease, url:http\://omim.org/entry/109150, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02906046 | Completed | N/A | Weight in Lower Limbs Improves Gait Ataxia of in Machado-Joseph Disease Patients | April 2012 | July 2014 |
| NCT04229823 | Unknown status | Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of SCA3/MJD | March 28, 2017 | August 2021 | |
| NCT04419974 | Unknown status | Astrocytic Markers and the Pre-ataxic Period of SCA3/MJD - BIGPRO Study Astrocytes | March 18, 2017 | August 2021 | |
| NCT04714307 | Unknown status | Neuropsychiatry and Cognition in SCA3/MJD | December 13, 2019 | August 1, 2023 |
- Disase is a (Disease Ontology)
- DOID:1441
- Cross Reference ID (Disease Ontology)
- MESH:D017827
- Cross Reference ID (Disease Ontology)
- MIM:109150
- Cross Reference ID (Disease Ontology)
- NCI:C84830
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:91952008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0024408
- Exact Synonym (Disease Ontology)
- Azorean disease
- Exact Synonym (Disease Ontology)
- MJD
- Exact Synonym (Disease Ontology)
- SCA3
- Exact Synonym (Disease Ontology)
- spinocerebellar ataxia 3
- Exact Synonym (Disease Ontology)
- spinocerebellar ataxia type 3
- MeSH unique ID (MeSH (Medical Subject Headings))
- D017827