Quebec Platelet Disorder

Description

Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.

Clinical Features

Phenotypes and symptoms related to Quebec Platelet Disorder

  • Thrombocytopenia
  • Bruising susceptibility
  • Epistaxis
  • Menorrhagia
  • Joint hemorrhage
  • Impaired epinephrine-induced platelet aggregation
  • Delayed onset bleeding

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Quebec Platelet Disorder Is also known as bleeding disorder, platelet-type, 5, factor v quebec, bdplt5.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Quebec Platelet Disorder Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
50 %
Platelet Function Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TBXA2R, TBXAS1, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, BLOC1S3, ANO6, GP1BA, GP1BB, GP9, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Platelet bleeding disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1, GP6, HPS3, HPS4, ACTN1, CD36, HPS5, DTNBP1, P2RY12, HPS6, LYST, BLOC1S3, ANO6, NBEAL2, SLFN14 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Platelet bleeding disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1, GP6, HPS3, HPS4, ACTN1, CD36, HPS5, DTNBP1, P2RY12, HPS6, LYST, BLOC1S3, ANO6, NBEAL2, SLFN14 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Platelet bleeding disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1, GP6, HPS3, HPS4, ACTN1, CD36, HPS5, DTNBP1, P2RY12, HPS6, LYST, BLOC1S3, ANO6, NBEAL2, SLFN14 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti (United States).

CFB, RUNX1, STXBP2, TBXA2R, THBD, VWF, WAS, C3, C4BPA, C4BPB, ADAMTS13, GP6, HPS3, HPS4, ACTN1, HAX1, CFHR4, CFHR3, HPS5, ACVRL1 , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
50 %
PLAU.

By Fulgent Genetics Fulgent Genetics (United States).

PLAU
Specificity
100 %
Genes
50 %

We have 0 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SUPRAVALVULAR AORTIC STENOSIS; SVAS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more