OMIA group 1000

Thrombasthenia

The chain reaches the human disease Glanzmann thrombasthenia 1, which Mondo defines 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.”

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

Animal disease

Reached

OMIA records it in 3 species entries marked as a defect.
Human disease

Reached

1 Mondo disease.
Human gene

Reached

1 human gene.
Target evidence

Reached

1 Open Targets association, with a best score of 0.84.
Drugs

Reached

5 ChEMBL drugs, 3 approved. None has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

Glanzmann thrombasthenia 1

89.5 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.84	29.5 of 35
Drugs	A drug has reached approved for this disease	25.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	3 naturally occurring species entries marked as a defect	10.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
dog	Canis lupus familiaris	OMIA:001000-9615	Yes
domestic cat	Felis catus	OMIA:001000-9685	Yes
horse	Equus caballus	OMIA:001000-9796	Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species	Animal gene	Human gene	Ortholog
dog	ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) NCBI Gene 403789	ITGA2B Ensembl	one to one
domestic cat	ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) NCBI Gene 101100930	ITGA2B Ensembl	one to one
horse	ITGA2B integrin alpha 2b NCBI Gene 100009697	ITGA2B Ensembl	one to one

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

OMIA's own Mondo link: OMIA links the group to no Mondo disease.
OMIA's OMIM numbers: found a disease.

Mondo disease	Name	Found by
MONDO:0031332	Glanzmann thrombasthenia 1 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.	OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene	Human disease	Score	Evidence	Kinds of evidence
ITGA2B	Glanzmann thrombasthenia 1	0.84	414	Genetic association 0.94 Genetic literature 0.72 Animal model 0.62 Literature 0.37

Drugs

Drugs act on ITGA2B, but none has been tested for this disease.

Drug	Acts on	How	Latest stage	Tested for this disease
Abciximab	ITGA2B	inhibitor	Approved	No
Eptifibatide	ITGA2B	inhibitor	Approved	No
Tirofiban	ITGA2B	inhibitor	Approved	No
Zalunfiban	ITGA2B	inhibitor	Phase 3	No
Tadocizumab	ITGA2B	antagonist	Phase 2	No

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