Features include always present findings: Excessive bleeding from superficial cuts, Impaired arachidonic acid-induced platelet aggregation, Impaired collagen-induced platelet aggregation, and Subcutaneous hemorrhage and others; and common findings: Gastrointestinal hemorrhage and Low platelet count (thrombocytopenia). 9 total HPO annotations.

EPHB2 encodes EPH receptor B2 (1,055 aa). Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. Highest expression in Colon Transverse (7.0 TPM) and Small Intestine Terminal Ileum (6.7 TPM).

Bleeding disorder, platelet-type, 22 has limited evidence linking it to mutations in the EPHB2 gene on chromosome 1.

The EPHB2 protein participates in SDC2 multimerises pathway.

EPHB2 is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, Enzyme, Kinase, and Tyrosine Kinase categories) with score 0.7.

Genetic testing for EPHB2 is available. Testing is considered research-grade for diagnosis.

Phenotype severity distribution: 6 always present features, 2 common features.

No clinical trials have been registered for bleeding disorder, platelet-type, 22.

2 publications have been identified in PubMed for bleeding disorder, platelet-type, 22. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

• He Q (2024). [PMID: 39654683](https://pubmed.ncbi.nlm.nih.gov/39654683/). *MedComm (2020)*. [Review / Meta-Analysis]

• Montague SJ (2024). [PMID: 38492852](https://pubmed.ncbi.nlm.nih.gov/38492852/). *J Thromb Haemost*. [Case Report / Case Series]