MedGen

Hereditary angioedema-6 (HAE6) is an autosomal dominant disorder characterized by onset of episodic subcutaneous and submucosal swelling in adulthood. The face, mouth, and tongue are often affected; some patients have distal limb or abdominal edema. Levels of complement component inhibitor (C1INH; 606860) are normal (summary by Bork et al., 2019). For a discussion of genetic heterogeneity of HAE, see 106100. [from OMIM]

High molecular weight kininogen (HMWK) deficiency is an autosomal recessive coagulation defect. It is known by a variety of names, including Fitzgerald trait, Flaujeac trait, and Williams trait. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis. Fitzgerald trait represents a 'true' deficiency of HMWK, whereas Flaujeac and Williams traits represent total kininogen deficiency, in which both HMWK and low molecular weight kininogen (LMWK) are deficient. HMWK and LMWK are both encoded by the KNG1 gene (612358) (Bick, 2002; Takagaki et al., 1985). [from OMIM]