Platelet-type bleeding disorder 11
Platelet-type bleeding disorder 11
Definition
Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene, the gene encoding platelet glycoprotein VI (GPVI), a critical collagen receptor. Affected individuals typically have mild to moderate bleeding, including epistaxis, easy bruising, menorrhagia, or postsurgical bleeding, despite normal platelet morphology. Laboratory findings include absent or markedly reduced GPVI expression, defective platelet activation and aggregation in response to collagen, prolonged bleeding time, and impaired collagen binding.
Also known as BDPLT11, GP6 inherited bleeding disorder, platelet-type, GP6-related platelet disorder, inherited bleeding disorder, platelet-type caused by mutation in GP6, platelet-type bleeding disorder 11 — per MONDO