PROZ gene related symptoms and diseases

All the information presented here about the PROZ gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PROZ gene

Symptoms // Phenotype % Cases
Stroke Uncommon - Between 30% and 50% cases
Abnormal bleeding Uncommon - Between 30% and 50% cases
Venous thrombosis Uncommon - Between 30% and 50% cases
Ischemic stroke Uncommon - Between 30% and 50% cases
Thromboembolism Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PROZ gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Deep venous thrombosis
  • Hypercoagulability
  • Arterial thrombosis
  • Capillary fragility
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to PROZ gene

Here you will find a list of rare diseases related to the PROZ. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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}).

Most common symptoms of PROTEIN Z DEFICIENCY

  • Stroke
  • Abnormal bleeding
  • Venous thrombosis
  • Ischemic stroke
  • Thromboembolism


More info about PROTEIN Z DEFICIENCY

SOURCES: OMIM

CEREBRAL SINOVENOUS THROMBOSIS


Alternate names

CEREBRAL SINOVENOUS THROMBOSIS Is also known as csvt


More info about CEREBRAL SINOVENOUS THROMBOSIS

SOURCES: ORPHANET


Potential gene panels for PROZ gene

PROZ Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PROZ gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like XPR1 AGGF1 PALB2 F2 KIF1A SLC10A2 ANIB1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more