Human disease
recessive dystrophic epidermolysis bullosa
Mondo defines it as: “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.”
2 disease groups in OMIA reach this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 341 | Epidermolysis bullosa, dystrophic | OMIA's OMIM numbers | 5 | Drug |
85.2
|
| 340 | Epidermolysis bullosa | OMIA's OMIM numbers | 2 | Human disease |
32.0
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| COL7A1 | 0.86 | 955 |
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
| Drug | Acts on | Latest stage for this disease |
|---|---|---|
| Allantoin | None of these genes | Phase 3 |
| Dabocemagene Autoficel | None of these genes | Phase 3 |
| Nelitolimod | None of these genes | Phase 3 |
| Prademagene Zamikeracel | None of these genes | Phase 3 |
| Beremagene Geperpavec | COL7A1 | Phase 1/2 |
| Efgartigimod Alfa | None of these genes | Phase 1/2 |
| Gentamicin | None of these genes | Phase 1/2 |
| Human Immunoglobulin G | None of these genes | Phase 1/2 |
| Rigosertib | None of these genes | Phase 1/2 |
| Isotretinoin | None of these genes | Phase 1 |
| Alemtuzumab | None of these genes | Early phase 1 |
| Busulfan | None of these genes | Early phase 1 |
| Fludarabine | None of these genes | Early phase 1 |
| Cyclophosphamide Anhydrous | None of these genes | Unknown |
| Fludarabine Phosphate | None of these genes | Unknown |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.