Disease

high molecular weight kininogen deficiency

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.
Synonyms
  • congenital high-molecular-weight kininogen deficiency
  • Fitzgerald trait
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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Associated Models