dystonia 12
Information
- Disease name
- dystonia 12
- Disease ID
- DOID:0090056
- Description
- "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13." [url:https\://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism, url:https\://www.omim.org/entry/128235]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03428009 | Recruiting | Dystonia Genotype-Phenotype Correlation | March 1, 2018 | September 2027 |
- Disase is a (Disease Ontology)
- DOID:543
- Cross Reference ID (Disease Ontology)
- ICD10CM:G24.1
- Cross Reference ID (Disease Ontology)
- MESH:C538001
- Cross Reference ID (Disease Ontology)
- MIM:128235
- Cross Reference ID (Disease Ontology)
- ORDO:71517