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GTR Home > Conditions/Phenotypes > High molecular weight kininogen deficiency

High molecular weight kininogen deficiency

Synonyms
Congenital high-molecular-weight kininogen deficiency; FITZGERALD TRAIT; Flaujeac factor deficiency; Reduced kininogen activity
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDK, BK, HAE6, HK, HMWK, KNG, KNG1
    Summary: kininogen 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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