P2RX1 gene related symptoms and diseases
All the information presented here about the P2RX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to P2RX1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Bruising susceptibility | Very Common - Between 80% and 100% cases |
| Abnormal bleeding | Very Common - Between 80% and 100% cases |
| Epistaxis | Very Common - Between 80% and 100% cases |
| Hemoptysis | Very Common - Between 80% and 100% cases |
| Ecchymosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with P2RX1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Persistent bleeding after trauma
- Prolonged bleeding after surgery
- Impaired ADP-induced platelet aggregation
- Subretinal hemorrhage
Rare diseases associated to P2RX1 gene
Here you will find a list of rare diseases related to the P2RX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
P2Y12 DEFECT
Alternate names
P2Y12 DEFECT Is also known as adp platelet receptor p2y12 defect, bleeding disorder due to p2ry12 defect
Description
P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.
Most common symptoms of P2Y12 DEFECT
- Bruising susceptibility
- Abnormal bleeding
- Epistaxis
- Hemoptysis
- Ecchymosis
More info about P2Y12 DEFECT
Search interest in P2RX1
Potential gene panels for P2RX1 gene
Platelet Disorders Panel
United States.
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 panel United States.
Bleeding Disorders Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Platelet Function Disorder Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
P2RX1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the P2RX1 gene.
More info about this panel United States.
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