OMIA group 328
Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related
The chain reaches the human disease Ehlers-Danlos syndrome, dermatosparaxis type, which Mondo defines as: “A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.”
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 0.74.
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Drugs
Stopped here
No ChEMBL drug acts on a human gene of the group's target evidence.
The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.
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.
66.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.74 | 26.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | Both routes found this disease | 10.0 of 10 |
| Species | 4 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:000328-9615 | Yes |
| domestic cat | Felis catus | OMIA:000328-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000328-9913 | Yes |
| sheep | Ovis aries | OMIA:000328-9940 | 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 |
|---|---|---|---|
| dog | ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 NCBI Gene 481453 | ADAMTS2 Ensembl | one to one |
| domestic cat | ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 NCBI Gene 101096945 | Ensembl does not know this NCBI Gene identifier. | |
| domestic cattle | ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 NCBI Gene 282401 | ADAMTS2 Ensembl | one to one |
| sheep | ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 NCBI Gene 101120574 | ADAMTS2 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:0009161 | Ehlers-Danlos syndrome, dermatosparaxis type A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility. | 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 |
|---|---|---|---|---|
| ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type | 0.74 | 1,719 | Genetic association 0.87 Genetic literature 0.61 Animal model 0.30 Literature 0.13 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.