high molecular weight kininogen deficiency

Term ID

DOID:0111676

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. (2)

References

• GARD:2684
• MESH:C537060
• MIM:228960
• NCI:C98946
• ORDO:483
• SNOMEDCT_US_2023_03_01:27312002
• UMLS_CUI:C0272340

Ontology

Human Disease   ( DOID:0111676 )