high molecular weight kininogen deficiency (DOID:0111676)
Alliance: disease page
Synonyms: congenital high-molecular-weight kininogen deficiency; Fitzgerald trait; HMWK deficiency
Alt IDs: OMIM:228960, MESH:C537060, NCI:C98946, ORDO:483, UMLS_CUI:C0272340
Definition: 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.