Human disease
developmental and epileptic encephalopathy, 39
Mondo defines it as: “A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.”
2 disease groups in OMIA reach 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 |
|---|---|---|---|---|---|
| 2294 | Cerebellar degeneration-myositis complex, SLC25A12-related | OMIA's OMIM numbers | 1 | Target evidence |
57.0
|
| 3026 | Porencephaly, SLC25A12-related | OMIA's OMIM numbers | 1 | Target evidence |
57.0
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| SLC25A12 | 0.80 | 49 |
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.