Human disease
ornithine carbamoyltransferase deficiency
Mondo defines it as: “Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.”
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 |
|---|---|---|---|---|---|
| 2383 | Ornithine transcarbamylase deficiency | OMIA's OMIM numbers | 1 | Target evidence |
60.2
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| OTC | 0.86 | 1,253 |
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 |
|---|---|---|
| Phenylbutanoic Acid | None of these genes | Approved |
| Avalotcagene Ontaparvovec | None of these genes | Phase 3 |
| Carglumic Acid | None of these genes | Phase 2 |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.