Quebec Platelet Disorder

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Quebec Platelet Disorder

PLAU
C10orf55

View recommended genes panels

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.

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 Panel complete gene list RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3, ANO6, ADRA2A, DHCR24, ANKRD26, MLPH, DPAGT1, NBEAL2, F8, FGA, FGB, FGG, FLNA, GATA1, GFI1B, GGCX, GNAQ, GNAS, GP1BA, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, KLKB1, A2M, MPL, MYH9, MYO5A, P2RX1, BLOC1S6, PLA2G7, PLAU, RAB27A 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 Panel complete gene list RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL, CYCS, BLOC1S3, VKORC1, ANO6, ANKRD26, NBEAL2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, FLI1, FLNA, GATA1, GFI1B, GGCX, GP1BA, GP1BB, GP9, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, LMAN1, MPL, MYH9, P2RX1, SERPINE1, PLAU, SERPINF2, PRKACG 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 Panel complete gene list TBXA2R, TBXAS1, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, BLOC1S3, ANO6, GP1BA, GP1BB, GP9, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, P2RX1, PLAU 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 Panel complete gene list SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1, GP6, HPS3, HPS4, ACTN1, CD36, HPS5, DTNBP1, P2RY12, HPS6, LYST, BLOC1S3, ANO6, NBEAL2, SLFN14, GBA, GFI1B, GP1BA, GP1BB, GP9, HPS1, AP3B1, ITGA2B, ITGB3, MYH9, BLOC1S6, PLAU, PRKACG, RASGRP2 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 Panel complete gene list SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1, GP6, HPS3, HPS4, ACTN1, CD36, HPS5, DTNBP1, P2RY12, HPS6, LYST, BLOC1S3, ANO6, NBEAL2, SLFN14, GBA, GFI1B, GP1BA, GP1BB, GP9, HPS1, AP3B1, ITGA2B, ITGB3, MYH9, BLOC1S6, PLAU, PRKACG, RASGRP2 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 Panel complete gene list SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1, GP6, HPS3, HPS4, ACTN1, CD36, HPS5, DTNBP1, P2RY12, HPS6, LYST, BLOC1S3, ANO6, NBEAL2, SLFN14, GBA, GFI1B, GP1BA, GP1BB, GP9, HPS1, AP3B1, ITGA2B, ITGB3, MYH9, BLOC1S6, PLAU, PRKACG, RASGRP2 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 Panel complete gene list CFB, RUNX1, STXBP2, TBXA2R, THBD, VWF, WAS, C3, C4BPA, C4BPB, ADAMTS13, GP6, HPS3, HPS4, ACTN1, HAX1, CFHR4, CFHR3, HPS5, ACVRL1, HPS6, MASTL, CYCS, BLOC1S3, VKORC1, CFHR5, G6PC3, DGKE, ELANE, ENG, F10, F11, F13A1, F2, F5, F7, F8, F9, FGA, FGB, FGG, GATA1, GGCX, GP1BA, GP1BB, GP9, SERPIND1, CFH, CFHR1, HOXA11, HPS1, HRG, CFI, LMAN1, LMNA, CD46, MPL, MYH9, SERPINC1, BLOC1S6, PLAU, PROC, RBM8A Specificity 2 % Genes 50 %
PLAU. By Fulgent Genetics Fulgent Genetics (United States). PLAU Specificity 100 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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