Bleeding Disorder, Platelet-type, 13, Susceptibility To; Bdplt13

Description

Susceptibility to platelet-type bleeding disorder-13 is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade (summary by Mumford et al., 2010).

Clinical Features

Phenotypes and symptoms related to Bleeding Disorder, Platelet-type, 13, Susceptibility To; Bdplt13

  • Bruising susceptibility
  • Epistaxis
  • Impaired platelet aggregation

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Bleeding Disorder, Platelet-type, 13, Susceptibility To; Bdplt13 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 %
Thromboxane A2 Receptor Deficiency via TBXA2R Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TBXA2R
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 %
TBXA2R.

By Fulgent Genetics Fulgent Genetics in United States.

TBXA2R
Specificity
100 %
Genes
100 %
Platelet Function Disorder Panel.

By Blueprint Genetics in Finland.

RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, THPO, GP1BA, TBXA2R, P2RY12, NBEAL2, ITGB3, ITGA2B, GP1BB, WIPF1, GP9 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
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, 13, Susceptibility To; Bdplt13 Is also known as bleeding disorder, susceptibility to, due to defective platelet thromboxane a2 receptor;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 4B; WS4B LUSCAN-LUMISH SYNDROME; LLS JOUBERT SYNDROME 6; JBTS6

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more