Protein Z Deficiency


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.


Accelerate your rare disease diagnosis with us

Learn more

Protein Z Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered

By Fulgent Genetics Fulgent Genetics (United States).

100 %
100 %

We have -7 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR ROTHMUND-THOMSON SYNDROME TYPE 2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian

Learn more