Human disease
platelet-type von Willebrand disease
Mondo defines it as: “A bleeding disorder caused by a variation in the GP1BA gene that increases the affinity of platelet GPIbα for von Willebrand factor (vWF), characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. Diagnostic laboratory findings include enhanced ristocetin‑induced agglutination and features that mimic type 2B VWD despite a primary platelet defect. Functional studies in human platelets demonstrate abnormally increased vWF binding and hyperresponsiveness, consistent with enhanced GPIbα‑vWF interactions described in patient cells.”
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 |
|---|---|---|---|---|---|
| 1056 | Von Willebrand disease, generic | OMIA's OMIM numbers | 6 | Drug |
58.9
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
| Human gene | Score | Evidence |
|---|---|---|
| VWF | 0.61 | 2,055 |
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.
No drug has been tested for this disease.