Human disease
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Mondo defines it as: “The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.”
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 |
|---|---|---|---|---|---|
| 2948 | Adrenal hyperplasia, congenital, CYP21A2-related | OMIA's OMIM numbers | 1 | Target evidence |
59.1
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| CYP21A2 | 0.83 | 677 |
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 |
|---|---|---|
| Cortisone Acetate | None of these genes | Approved |
| Dexamethasone | None of these genes | Approved |
| Dexamethasone Phosphoric Acid | None of these genes | Approved |
| Prednisolone | None of these genes | Approved |
| Prednisone | None of these genes | Approved |
| Abiraterone Acetate | None of these genes | Phase 2 |
| Tildacerfont | 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.