OMIA group 437
Haemophilia A
The chain reaches the human disease hemophilia A, which Mondo defines as: “The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.”
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 7 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 0.91.
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Drugs
Reached
16 ChEMBL drugs, 14 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.
96.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.91 | 31.7 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 | 7 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 |
|---|---|---|---|
| crab-eating macaque | Macaca fascicularis | OMIA:000437-9541 | Yes |
| dog | Canis lupus familiaris | OMIA:000437-9615 | Yes |
| domestic cat | Felis catus | OMIA:000437-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000437-9913 | Yes |
| horse | Equus caballus | OMIA:000437-9796 | Yes |
| pig | Sus scrofa | OMIA:000437-9823 | Yes |
| sheep | Ovis aries | OMIA:000437-9940 | 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 |
|---|---|---|---|
| crab-eating macaque | No gene | OMIA records no gene for this species entry. | |
| dog | F8 coagulation factor VIII, procoagulant component NCBI Gene 403875 | F8 Ensembl | one to one |
| domestic cat | F8 coagulation factor VIII NCBI Gene 101092751 | F8 Ensembl | one to one |
| domestic cattle | F8 coagulation factor VIII NCBI Gene 100271720 | F8 Ensembl | one to one |
| horse | No gene | OMIA records no gene for this species entry. | |
| pig | No gene | OMIA records no gene for this species entry. | |
| sheep | F8 coagulation factor VIII, procoagulant component NCBI Gene 100359363 | F8 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:0010602 | hemophilia A The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency. | 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 |
|---|---|---|---|---|
| F8 | hemophilia A | 0.91 | 5,181 | Known drug 0.99 Genetic association 0.98 Literature 0.96 Affected pathway 0.93 Genetic literature 0.80 |
Drugs
A drug acts on F8 and has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Antihemophilic Factor, Pegylated (Mw 20000) Human Sequence Recombinant | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Damoctocog Alfa Pegol | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Efanesoctocog Alfa | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Efmoroctocog Alfa | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Lonoctocog Alfa | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Moroctocog Alfa | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Octocog Alfa | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Simoctocog Alfa | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Susoctocog Alfa | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Turoctocog Alfa | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Turoctocog Alfa Pegol | F8 | exogenous protein | Approved | Approved for hemophilia A |
| Human Coagulation Factor Viii | F8 | exogenous protein | Approved | Phase 3 for hemophilia A |
| Omfiloctocog Alfa | F8 | exogenous protein | Approved | Phase 3 for hemophilia A |
| Giroctocogene Fitelparvovec | F8 | exogenous gene | Phase 3 | Phase 3 for hemophilia A |
| Drotrecogin Alfa (Activated) | F8 | inhibitor | Approved | No |
| Tb-402 | F8 | inhibitor | Phase 2 | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.