OMIA group 2557
Leber hereditary optic neuropathy
The chain reaches the human disease Leber hereditary optic neuropathy, which Mondo defines as: “Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.”
The chain
From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.
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Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
1 Open Targets association, with a best score of 0.67.
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Drugs
Reached
3 ChEMBL drugs, 1 approved. None has been tested for this disease.
Natural-model score
How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.
77.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.67 | 23.5 of 35 |
| Drugs | A drug has reached approved for this disease | 25.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| domestic cattle | Bos taurus | OMIA:002557-9913 | Yes |
Genes
Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.
| Species | Animal gene | Human gene | Ortholog |
|---|---|---|---|
| domestic cattle | ND4L NADH dehydrogenase subunit 4L NCBI Gene 3283885 | MT-ND4L Ensembl | one to one |
Human diseases
Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.
- OMIA's own Mondo link: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0010788 | Leber hereditary optic neuropathy Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. | OMIA's OMIM numbers |
Target evidence
Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| MT-ND4L | Leber hereditary optic neuropathy | 0.67 | 18 | Genetic literature 0.80 Genetic association 0.60 Literature 0.19 |
Drugs
Drugs act on MT-ND4L, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Metformin | MT-ND4L | inhibitor | Approved | No |
| Me-344 | MT-ND4L | inhibitor | Phase 1/2 | No |
| Nv-128 | MT-ND4L | inhibitor | Unknown | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.