P2RY12 gene related symptoms and diseases

All the information presented here about the P2RY12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to P2RY12 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 P2RY12 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
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to P2RY12 gene

Here you will find a list of rare diseases related to the P2RY12. 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

SOURCES: OMIM MESH ORPHANET


Potential gene panels for P2RY12 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

P2RY12 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the P2RY12 gene.

More info about this panel

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

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

ADP Receptor Deficiency via P2RY12 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the P2RY12 gene.

More info about this panel

Platelet bleeding disorders NGS panel Panel

United States.

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 panel

Platelet bleeding disorders Deletion / Duplication panel Panel

United States.

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 panel

Platelet bleeding disorders Comprehensive panel Panel

United States.

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 panel

Bleeding disorder, platelet-type 8 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the P2RY12 gene.

More info about this panel

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

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

P2RY12 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the P2RY12 gene.

More info about this panel

Platelet Function Disorder Panel Panel

Finland.

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 panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

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 panel

Comprehensive Hematology Panel Panel

Finland.

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 panel

Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes Panel

Spain.

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

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KY GTF2I GNAQ TBX20 FGF20 MT-TS1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more