platelet-type bleeding disorder 11
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.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
BDPLT11
exact
GP6 inherited bleeding disorder, platelet-type
exact
GP6-related platelet disorder
exact
inherited bleeding disorder, platelet-type caused by mutation in GP6
exact
platelet-type bleeding disorder 11
exact
platelet-type bleeding disorder-11
related