Human genes for high molecular weight kininogen deficiency
High molecular weight kininogen deficiency [DOID:0111676]
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.
Synonyms: high molecular weight kininogen deficiency, DOID:0111676, high molecular weight kininogen deficiencies, Fitzgerald trait, HMWK deficiency ...