Human disease
thrombocytopenia 2
Mondo defines it as: “An autosomal dominant thrombocytopenia caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability, mild to moderate reductions in platelet count, platelets that are generally normal in size, and a mild mucocutaneous bleeding tendency. Individuals show normal platelet ultrastructure and typically have no associated syndromic abnormalities, but megakaryocyte maturation is abnormal, reflecting dysregulated thrombopoiesis. Pathogenic variants occur exclusively in the 5' untranslated region (5'UTR) of ANKRD26, and variants cause gain-of-function overexpression during megakaryopoiesis, disrupting normal signaling and impairing proplatelet formation.”
2 disease groups in OMIA reach 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 |
|---|---|---|---|---|---|
| 2258 | Lethality, SOWAHB-related | OMIA's OMIM numbers | 1 | Human gene |
29.0
|
| 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.