OMIA group 1081
Muscular dystrophy, Duchenne type
The chain reaches the human disease Duchenne muscular dystrophy, which Mondo defines as: “Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting 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 4 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 0.87.
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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.
92.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.87 | 30.4 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 | 2 naturally occurring species entries marked as a defect. 2 genetically engineered entries are not counted | 7.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| dog Naturally occurring, and also genetically engineered. | Canis lupus familiaris | OMIA:001081-9615 | Yes |
| domestic cat | Felis catus | OMIA:001081-9685 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:001081-9823 | Yes |
| Rhesus monkey Genetically engineered, not naturally occurring. Not counted in the score. | Macaca mulatta | OMIA:001081-9544 | 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 | DMD dystrophin NCBI Gene 606758 | DMD Ensembl | one to one |
| domestic cat | DMD dystrophin NCBI Gene 101084937 | DMD Ensembl | one to one |
| pig | DMD dystrophin NCBI Gene 497636 | DMD Ensembl | one to one |
| Rhesus monkey | DMD dystrophin NCBI Gene 708073 | 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:0010679 | Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting 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 | Duchenne muscular dystrophy | 0.87 | 15,916 | Known drug 0.96 Literature 0.96 Genetic association 0.91 Genetic literature 0.84 Somatic mutation 0.62 Animal model 0.57 RNA expression 0.07 |
Drugs
A drug acts on DMD and has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Casimersen | DMD | positive modulator | Approved | Approved for Duchenne muscular dystrophy |
| Eteplirsen | DMD | positive modulator | Approved | Approved for Duchenne muscular dystrophy |
| Golodirsen | DMD | positive modulator | Approved | Approved for Duchenne muscular dystrophy |
| Viltolarsen | DMD | positive modulator | Approved | Approved for Duchenne muscular dystrophy |
| Drisapersen | DMD | positive modulator | Phase 3 | Phase 3 for Duchenne muscular dystrophy |
| Suvodirsen | DMD | positive modulator | Phase 2/3 | Phase 2/3 for Duchenne muscular dystrophy |
| Delandistrogene Moxeparvovec | DMD | exogenous gene | Approved | Phase 1 for Duchenne muscular dystrophy |
| Suvodirsen Sodium | DMD | positive modulator | Unknown | Unknown for Duchenne muscular dystrophy |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.