Human disease

Glanzmann thrombasthenia 1

MONDO:0031332

Mondo defines it as: “A platelet type bleeding disorder characterized by lifelong mucocutaneous bleeding, markedly impaired platelet aggregation, and absent or severely reduced clot retraction due to failure of the αIIbβ3 integrin complex to bind fibrinogen. Platelets appear normal in number and morphology, but aggregation responses to physiologic agonists (including ADP, collagen, epinephrine, and thrombin) are severely decreased or absent, while ristocetin‑induced agglutination remains normal. Biallelic loss‑of‑function ITGA2B variants reduce or abolish surface expression of the αIIbβ3 receptor, preventing fibrinogen‑mediated platelet bridging and producing the classic Glanzmann thrombasthenia phenotype.”

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.

Human genes

Each human gene of these disease groups that Open Targets links 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.

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.