OMIA group 341
Epidermolysis bullosa, dystrophic
The chain reaches the human disease epidermolysis bullosa simplex 5A, Ogna type, which Mondo defines as: “A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.” It reaches 5 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 5 species entries marked as a defect.
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Human disease
Reached
6 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
4 Open Targets associations, with a best score of 0.86.
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Drugs
Reached
1 ChEMBL drug, 1 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.
85.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.86 | 30.2 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 5 naturally occurring species entries marked as a defect | 10.0 of 10 |
66.8 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.84 | 29.3 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 | One route found this disease | 5.0 of 10 |
| Species | 5 naturally occurring species entries marked as a defect | 10.0 of 10 |
64.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.77 | 27.0 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 | One route found this disease | 5.0 of 10 |
| Species | 5 naturally occurring species entries marked as a defect | 10.0 of 10 |
40.8 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.09 | 3.3 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 | One route found this disease | 5.0 of 10 |
| Species | 5 naturally occurring species entries marked as a defect | 10.0 of 10 |
37.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 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 | One route found this disease | 5.0 of 10 |
| Species | 5 naturally occurring species entries marked as a defect | 10.0 of 10 |
37.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 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 | One route found this disease | 5.0 of 10 |
| Species | 5 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:000341-9615 | Yes |
| domestic cat | Felis catus | OMIA:000341-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000341-9913 | Yes |
| goat | Capra hircus | OMIA:000341-9925 | Yes |
| sheep | Ovis aries | OMIA:000341-9940 | 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 | COL7A1 collagen, type VII, alpha 1 NCBI Gene 403467 | No human ortholog in Ensembl. | |
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| domestic cattle | COL7A1 collagen type VII alpha 1 NCBI Gene 507133 | COL7A1 Ensembl | one to one |
| goat | 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:0009178 | epidermolysis bullosa dystrophica Neurotrophica | OMIA's OMIM numbers |
| MONDO:0007555 | epidermolysis bullosa simplex 5A, Ogna type A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering. | OMIA's OMIM numbers |
| MONDO:0007557 | epidermolysis bullosa with congenital localized absence of skin and deformity of nails | OMIA's OMIM numbers |
| MONDO:0007549 | generalized dominant dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. | OMIA's OMIM numbers |
| MONDO:0009179 | recessive dystrophic epidermolysis bullosa Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | OMIA's OMIM numbers |
| MONDO:0007548 | transient bullous dermolysis of the newborn Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | 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 |
|---|---|---|---|---|
| COL7A1 | recessive dystrophic epidermolysis bullosa | 0.86 | 955 | Genetic association 0.94 Genetic literature 0.82 Literature 0.44 Animal model 0.41 Known drug 0.09 |
| COL7A1 | generalized dominant dystrophic epidermolysis bullosa | 0.84 | 382 | Genetic association 0.94 Animal model 0.89 Genetic literature 0.76 Literature 0.24 |
| COL7A1 | transient bullous dermolysis of the newborn | 0.77 | 287 | Animal model 0.90 Genetic association 0.87 Genetic literature 0.73 Literature 0.04 |
| COL7A1 | epidermolysis bullosa simplex 5A, Ogna type | 0.09 | 12 | Animal model 0.78 |
Drugs
A drug acts on COL7A1 and has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Beremagene Geperpavec | COL7A1 | exogenous gene | Approved | Phase 1/2 for recessive dystrophic epidermolysis bullosa |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.