Human disease
thrombocytopenia 3
Mondo defines it as: “An inherited thrombocytopenia caused by a variation in the FYB1 gene, characterized by small-platelet thrombocytopenia beginning in infancy, with variable mucocutaneous bleeding including petechiae, epistaxis, and heavy menstrual bleeding. Platelet studies in affected individuals reveal reduced pseudopodia formation, impaired integrin activation, increased basal P-selectin and PAC-1 expression, and reduced ability to upregulate activation markers following ADP stimulation. Megakaryocyte abnormalities, including reduced numbers of mature multilobulated megakaryocytes and impaired proplatelet development, reflect a defect in cytoskeletal organization linked to the loss of FYB1's adaptor function in integrin-mediated signaling.”
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 |
|---|---|---|---|---|---|
| 1001 | Thrombocytopenia | OMIA's OMIM numbers | 6 | Human disease |
15.0
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
Open Targets links none of these groups' human genes to this disease.
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.