Protein Z Deficiency

Description

Protein Z serves as a cofactor for the downregulation of coagulation by forming a complex with the protein Z-dependent protease inhibitor (ZPI ). Evidence also suggests that protein Z may promote the assembly of thrombin with phospholipid surfaces, thus enhancing coagulation. There is a wide variation of protein Z levels in human plasma, and studies have reported conflicting results of the clinical consequences of protein Z deficiency in humans. Most studies have reported an association between decreased protein Z levels and thrombosis, including stroke, venous thrombosis, and obstetric complications, although early reports suggested an association between protein Z deficiency and bleeding tendency (Kemkes-Matthes and Matthes, 1995). Overall, a role for protein Z in the pathogenesis of hemostatic disorders in humans is controversial and remains unclear (review by Broze, 2001 and Vasse, 2008).Protein Z deficiency has been shown to exacerbate the thrombotic phenotype in patients with thrombophilia due to factor V Leiden (see {188055}).

Clinical Features

Phenotypes and symptoms related to Protein Z Deficiency

  • Stroke
  • Abnormal bleeding
  • Venous thrombosis
  • Ischemic stroke
  • Thromboembolism
  • Deep venous thrombosis
  • Hypercoagulability
  • Arterial thrombosis
  • Capillary fragility

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Protein Z Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PROZ.

By Fulgent Genetics Fulgent Genetics (United States).

PROZ
Specificity
100 %
Genes
100 %

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Sources and references

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