Term Name: high molecular weight kininogen deficiency
Synonyms: congenital high-molecular-weight kininogen deficiency, Fitzgerald trait, HMWK 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.
Ontology: Human Disease [DOID:0111676]   ( DOID:0111676 )

Relationships
is a type of: autosomal recessive disease blood coagulation disease