OMIA group 388
Fibrodysplasia ossificans
The chain reaches the human disease fibrodysplasia ossificans progressiva, which Mondo defines as: “Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.”
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
4 ChEMBL drugs, 4 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.
85.6 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.82 | 28.6 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 | 2 naturally occurring species entries marked as a defect. 1 genetically engineered entry is 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 | Canis lupus familiaris | OMIA:000388-9615 | Yes |
| domestic cat | Felis catus | OMIA:000388-9685 | Yes |
| Japanese medaka Genetically engineered, not naturally occurring. Not counted in the score. | Oryzias latipes | OMIA:000388-8090 | 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 | ACVR1 activin A receptor, type I NCBI Gene 101091298 | ACVR1 Ensembl | one to one |
| Japanese medaka | No gene | OMIA records no gene for this species entry. | |
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:0007606 | fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. | 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 |
|---|---|---|---|---|
| ACVR1 | fibrodysplasia ossificans progressiva | 0.82 | 649 | Genetic association 0.90 Literature 0.88 Genetic literature 0.78 Animal model 0.39 |
Drugs
Drugs act on ACVR1, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Dibotermin Alfa | ACVR1 | agonist | Approved | No |
| Eptotermin Alfa | ACVR1 | agonist | Approved | No |
| Momelotinib | ACVR1 | inhibitor | Approved | No |
| Pacritinib | ACVR1 | inhibitor | Approved | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.