Human disease
dentatorubral-pallidoluysian atrophy
Mondo defines it as: “A progressive neurodegenerative disease caused by expanded CAG repeats in the ATN1 gene. It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cerebellar atrophy, and cognitive decline. Neuropathological changes consist of combined degeneration of the dentatorubral and pallidoluysian systems. Affected individuals mostly have heterozygous expanded CAG repeat units (usually with lengths of 48 tandem repeat units or more) in exon 5 of the ATN1 gene. Clinical presentation and onset depend on the size of the repeat due to the toxicity threshold of the expanded polyglutamine (polyQ) tract in the ATN1 gene product.”
1 disease group in OMIA reaches this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 344 | Epilepsy | OMIA's OMIM numbers | 12 | Drug |
37.5
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
Open Targets links none of these groups' human genes to this disease.
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
No drug has been tested for this disease.