Human disease
Marfan syndrome
Mondo defines it as: “A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.”
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 |
|---|---|---|---|---|---|
| 628 | Marfan syndrome, FBN1-related | Both routes | 4 | Target evidence |
88.0
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| FBN1 | 0.89 | 11,321 |
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 |
|---|---|---|
| Aliskiren | None of these genes | Phase 3 |
| Atenolol | None of these genes | Phase 3 |
| Losartan | None of these genes | Phase 3 |
| Nebivolol | None of these genes | Phase 3 |
| Perindopril | None of these genes | Phase 3 |
| Doxycycline Anhydrous | None of these genes | Phase 2 |
| Irbesartan | 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.