OMIA group 1888
Muscular dystrophy, Becker type
The chain reaches the human disease Becker muscular dystrophy, which Mondo defines as: “Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.”
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 3 species entries 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 0.82.
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Drugs
Reached
8 ChEMBL drugs, 5 approved. At least one 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.
93.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.82 | 28.7 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 | Both routes found this disease | 10.0 of 10 |
| Species | 3 naturally occurring species entries marked as a defect | 10.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:001888-9615 | Yes |
| domestic cat | Felis catus | OMIA:001888-9685 | Yes |
| pig | Sus scrofa | OMIA:001888-9823 | 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 |
|---|---|---|---|
| dog | No gene | OMIA records no gene for this species entry. | |
| domestic cat | DMD dystrophin NCBI Gene 101084937 | DMD Ensembl | one to one |
| pig | DMD dystrophin NCBI Gene 497636 | DMD 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: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0010311 | Becker muscular dystrophy Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. | Both routes |
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 |
|---|---|---|---|---|
| DMD | Becker muscular dystrophy | 0.82 | 2,434 | Genetic association 0.89 Genetic literature 0.87 Animal model 0.78 Literature 0.69 Known drug 0.61 |
Drugs
A drug acts on DMD and has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Delandistrogene Moxeparvovec | DMD | exogenous gene | Approved | Approved for Becker muscular dystrophy |
| Casimersen | DMD | positive modulator | Approved | No |
| Eteplirsen | DMD | positive modulator | Approved | No |
| Golodirsen | DMD | positive modulator | Approved | No |
| Viltolarsen | DMD | positive modulator | Approved | No |
| Drisapersen | DMD | positive modulator | Phase 3 | No |
| Suvodirsen | DMD | positive modulator | Phase 2/3 | No |
| Suvodirsen Sodium | DMD | positive modulator | Unknown | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.