TBXA2R gene related symptoms and diseases
All the information presented here about the TBXA2R gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TBXA2R gene
Symptoms // Phenotype | % Cases |
---|---|
Bruising susceptibility | Very Common - Between 80% and 100% cases |
Epistaxis | Very Common - Between 80% and 100% cases |
Ecchymosis | Very Common - Between 80% and 100% cases |
Impaired platelet aggregation | Very Common - Between 80% and 100% cases |
Rare diseases associated to TBXA2R gene
Here you will find a list of rare diseases related to the TBXA2R. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLEEDING DIATHESIS DUE TO THROMBOXANE SYNTHESIS DEFICIENCY
Alternate names
BLEEDING DIATHESIS DUE TO THROMBOXANE SYNTHESIS DEFICIENCY Is also known as bleeding disorder, susceptibility to, due to defective platelet thromboxane a2 receptor
Description
Bleeding diathesis due to thromboxane synthesis deficiency is a rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).
Most common symptoms of BLEEDING DIATHESIS DUE TO THROMBOXANE SYNTHESIS DEFICIENCY
- Bruising susceptibility
- Epistaxis
- Ecchymosis
- Impaired platelet aggregation
More info about BLEEDING DIATHESIS DUE TO THROMBOXANE SYNTHESIS DEFICIENCY
Search interest in TBXA2R
Potential gene panels for TBXA2R gene
Platelet Disorders Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3
More info about this panelBleeding Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3
More info about this panelPlatelet Function Disorder Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Platelet Function Disorder Sequencing Panel with CNV Detection that also includes the following genes: TBXA2R TBXAS1 GP6 HPS3 HPS4 CD36 HPS5 DTNBP1 P2RY12 HPS6
More info about this panelThromboxane A2 Receptor Deficiency via TBXA2R Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TBXA2R gene.
More info about this panelPlatelet bleeding disorders NGS panel Panel
By Connective Tissue Gene Tests Platelet bleeding disorders NGS panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panelPlatelet bleeding disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Platelet bleeding disorders Deletion / Duplication panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panelPlatelet bleeding disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Platelet bleeding disorders Comprehensive panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panelaCGH Deletion/Duplication Analysis Panel
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB
More info about this panelTBXA2R Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TBXA2R gene.
More info about this panelPlatelet Function Disorder Panel Panel
By Blueprint Genetics Platelet Function Disorder Panel that also includes the following genes: RUNX1 TBXA2R THPO WIPF1 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6
More info about this panelBleeding Disorder/Coagulopathy Panel Panel
By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3
More info about this panelComprehensive Hematology Panel Panel
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panelPlatelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes Panel
By Reference Laboratory Genetics Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: TBXA2R GP6 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6 BLOC1S3 ANO6
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