Human disease
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Mondo defines it as: “Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.”
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 |
|---|---|---|---|---|---|
| 2298 | Neuropathy with splayed forelimbs, UCHL1-related | OMIA's OMIM numbers | 1 | Target evidence |
57.1
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| UCHL1 | 0.80 | 39 |
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.