dystonia 9
Information
- Disease name
- dystonia 9
- Disease ID
- DOID:0090044
- Description
- "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1430/, url:https\://www.ncbi.nlm.nih.gov/pubmed/30616884, url:https\://www.omim.org/entry/601042]
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:G24.8
- Cross Reference ID (Disease Ontology)
- MIM:601042
- Cross Reference ID (Disease Ontology)
- ORDO:53583
- MedGen concept unique identifier (MedGen Concept name)
- C1832855
- MedGen unique identifier (MedGen Concept name)
- 371427