high molecular weight kininogen deficiency

A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygou

A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene.

Signs and symptoms

• Reduced kininogen activity
• Prolonged partial thromboplastin time

Also known as: Fitzgerald trait; HMWK deficiency; congenital high-molecular-weight kininogen deficiency