platelet-type bleeding disorder 11

A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromo

A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13.

Signs and symptoms

• Prolonged bleeding time
• Impaired collagen-induced platelet aggregation
• Ecchymosis
• Menorrhagia
• Bruising susceptibility
• Epistaxis
• Impaired ristocetin-induced platelet aggregation
• Abnormal platelet count

Also known as: BDPLT11; GP VI deficiency; glycoprotein VI deficiency