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
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
Search interest in PROZ
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 United States.
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