Human disease
congenital erythropoietic porphyria
Mondo defines it as: “An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to <5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms.”
1 disease group in OMIA reaches 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 |
|---|---|---|---|---|---|
| 1175 | Porphyria, congenital erythropoietic | OMIA's OMIM numbers | 4 | Target evidence |
89.8
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| UROS | 0.85 | 236 |
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 |
|---|---|---|
| Afamelanotide | None of these genes | Approved |
| Aripiprazole | None of these genes | Approved |
| Dersimelagon | None of these genes | Phase 2 |
| Ciclopirox | None of these genes | Phase 1/2 |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.