OMIA group 819
Prekallikrein deficiency
The chain reaches the human disease inherited prekallikrein deficiency, which Mondo defines as: “An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.”
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 2 species entries marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
2 human genes.
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Target evidence
Reached
2 Open Targets associations, with a best score of 0.72.
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Drugs
Reached
9 ChEMBL drugs, 5 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.
64.9 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.72 | 25.4 of 35 |
| Drugs | Drugs act on its genes, but no drug has been tested for this disease | 2.5 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 | 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:000819-9615 | Yes |
| horse | Equus caballus | OMIA:000819-9796 | 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 | KLKB1 kallikrein B, plasma (Fletcher factor) 1 NCBI Gene 475624 | F11 Ensembl | one to one |
| KLKB1 Ensembl | one to one | ||
| horse | 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: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0012901 | inherited prekallikrein deficiency An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome. | 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 |
|---|---|---|---|---|
| KLKB1 | inherited prekallikrein deficiency | 0.72 | 30 | Genetic association 0.84 Genetic literature 0.73 Animal model 0.34 Literature 0.09 |
| F11 | inherited prekallikrein deficiency | 0.03 | 2 | Animal model 0.27 Literature 0.02 |
Drugs
Drugs act on F11 and KLKB1, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Aprotinin | KLKB1 | inhibitor | Approved | No |
| Berotralstat | KLKB1 | inhibitor | Approved | No |
| Ecallantide | KLKB1 | inhibitor | Approved | No |
| Human C1-Esterase Inhibitor | F11 | inhibitor | Approved | No |
| Human C1-Esterase Inhibitor | KLKB1 | inhibitor | Approved | No |
| Lanadelumab | KLKB1 | inhibitor | Approved | No |
| Abelacimab | F11 | inhibitor | Phase 3 | No |
| Avoralstat | KLKB1 | inhibitor | Phase 3 | No |
| Milvexian | F11 | inhibitor | Phase 3 | No |
| Osocimab | F11 | negative allosteric modulator | Phase 2 | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.