Bleeding Disorder, Platelet-type, 11; Bdplt11

Description

Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009).

Clinical Features

Phenotypes and symptoms related to Bleeding Disorder, Platelet-type, 11; Bdplt11

  • Bruising susceptibility
  • Epistaxis
  • Prolonged bleeding time
  • Menorrhagia
  • Ecchymosis

Incidence and onset information

Not enough data available about incidence and published cases.


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Bleeding Disorder, Platelet-type, 11; Bdplt11 Recommended genes panels

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

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

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Platelet Function Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GP1BA, ANO6, GP6, TBXA2R, P2RX1, P2RY12, TBXAS1, PLAU, ITGA2, CD36, ITGB3, ITGA2B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Familial Platelet Function Disorder via GP6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GP6
Specificity
100 %
Genes
100 %
Platelet bleeding disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Platelet bleeding disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Platelet bleeding disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
aCGH Deletion/Duplication Analysis.

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

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
GP6.

By Fulgent Genetics Fulgent Genetics in United States.

GP6
Specificity
100 %
Genes
100 %
Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GP1BA, ANO6, GP6, TBXA2R, P2RY12, ITGB3, ITGA2B, GP1BB, GP9
Specificity
6 %
Genes
100 %

Alternate names

Bleeding Disorder, Platelet-type, 11; Bdplt11 Is also known as glycoprotein vi deficiency, gp vi deficiency;.



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