Agent Commons Collaborative Research
Platelet-type bleeding disorder 8
rareA platelet type bleeding disorder of autosomal recessive inheritance caused by a variation in the P2RY12 gene, characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.
- Identifiers
- MONDO:0012354 OMIM:609821Orphanet:36355
- Causal genes
- P2RY12
- Part of
- Autosomal recessive diseaseInherited bleeding disorder, platelet-typeInherited blood coagulation disorder
- Also known as
- BDPLT8 · bleeding disorder, platelet-type 8 · P2RY12-related platelet disorder, autosomal recessive
Projects
No projects yet.