OMIA group 327
Ehlers-Danlos syndrome, generic
The chain reaches the human disease autosomal dominant Ehlers-Danlos syndrome, vascular type, which Mondo defines as: “The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.” It reaches 13 more human diseases, listed below.
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
14 Mondo diseases.
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Human gene
Stopped here
No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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Target evidence
Not reached
The chain stopped before this step.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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.
Ehlers-Danlos syndrome, hypermobility type
35.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
Ehlers-Danlos syndrome, kyphoscoliotic type 1
20.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | A drug has reached unknown for this disease | 5.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
autosomal dominant Ehlers-Danlos syndrome, vascular type
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
brittle cornea syndrome 1
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
Ehlers-Danlos syndrome arthrochalasia type 1
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
Ehlers-Danlos syndrome, autosomal dominant, type unspecified
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
Ehlers-Danlos syndrome, cardiac valvular type
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
Ehlers-Danlos syndrome, classic type, 1
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
Ehlers-Danlos syndrome, classic type, 2
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
Ehlers-Danlos syndrome, dermatosparaxis type
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
Ehlers-Danlos syndrome, fibronectinemic type
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
Ehlers-Danlos syndrome, periodontal type 1
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
Ehlers-Danlos syndrome, spondylodysplastic type, 1
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 7 naturally occurring species entries marked as a defect | 10.0 of 10 |
joint laxity, familial
15.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 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 |
|---|---|---|---|
| American mink | Neogale vison | OMIA:000327-452646 | Yes |
| Campbell's desert hamster | Cricetiscus campbelli | OMIA:000327-47665 | Yes |
| dog | Canis lupus familiaris | OMIA:000327-9615 | Yes |
| domestic cat | Felis catus | OMIA:000327-9685 | Yes |
| horse | Equus caballus | OMIA:000327-9796 | Yes |
| rabbit | Oryctolagus cuniculus | OMIA:000327-9986 | Yes |
| sheep | Ovis aries | OMIA:000327-9940 | 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 |
|---|---|---|---|
| American mink | No gene | OMIA records no gene for this species entry. | |
| Campbell's desert hamster | No gene | OMIA records no gene for this species entry. | |
| dog | No gene | OMIA records no gene for this species entry. | |
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| horse | PPIB peptidylprolyl isomerase B (cyclophilin B) NCBI Gene 100066834 | Ensembl does not know this NCBI Gene identifier. | |
| rabbit | No gene | OMIA records no gene for this species entry. | |
| sheep | 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:0007524 | autosomal dominant Ehlers-Danlos syndrome, vascular type The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. | OMIA's OMIM numbers |
| MONDO:0024543 | brittle cornea syndrome 1 Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene. | OMIA's OMIM numbers |
| MONDO:0020521 | Ehlers-Danlos syndrome arthrochalasia type 1 | OMIA's OMIM numbers |
| MONDO:0007528 | Ehlers-Danlos syndrome, autosomal dominant, type unspecified | OMIA's OMIM numbers |
| MONDO:0009159 | Ehlers-Danlos syndrome, cardiac valvular type A form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency. | OMIA's OMIM numbers |
| MONDO:0019567 | Ehlers-Danlos syndrome, classic type, 1 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene. | OMIA's OMIM numbers |
| MONDO:0019568 | Ehlers-Danlos syndrome, classic type, 2 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene. | OMIA's OMIM numbers |
| 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. | OMIA's OMIM numbers |
| MONDO:0009158 | Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive. | OMIA's OMIM numbers |
| MONDO:0007523 | Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. | OMIA's OMIM numbers |
| MONDO:0016002 | Ehlers-Danlos syndrome, kyphoscoliotic type 1 A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. | OMIA's OMIM numbers |
| MONDO:0020684 | Ehlers-Danlos syndrome, periodontal type 1 | OMIA's OMIM numbers |
| MONDO:0020682 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. | OMIA's OMIM numbers |
| MONDO:0007842 | joint laxity, familial A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance. | 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.
The chain did not reach target evidence.
Drugs
The chain did not reach the drugs.