High Molecular Weight Kininogen Deficiency

Description

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 (OMIM ) (Bick, 2002; Takagaki et al., 1985).

Clinical Features

Phenotypes and symptoms related to High Molecular Weight Kininogen Deficiency

  • Visual impairment
  • Nevus
  • Vomiting
  • Headache
  • Loss of consciousness
  • Prolonged partial thromboplastin time
  • Venous occlusion
  • Reduced kininogen activity

Incidence and onset information

Not enough data available about incidence and published cases.


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High Molecular Weight Kininogen Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KNG1.

By Fulgent Genetics Fulgent Genetics in United States.

KNG1
Specificity
100 %
Genes
100 %

Alternate names

High Molecular Weight Kininogen Deficiency Is also known as hmwk deficiency, kininogen deficiency, high molecular weight, fitzgerald trait;.



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