Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Bleeding disorder due to P2RY12 defect
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Cause
    • Inheritance
    • Diagnosis
    • Treatment
    • Statistics
    • Find a Specialist
    • Learn More
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Bleeding disorder due to P2RY12 defect


Title


How can we make GARD better? We want to hear from you.
Provide Feedback

Other Names:
ADP platelet receptor P2Y12 defect; P2Y12 defect; Bleeding disorder due to ADP platelet receptor P2Y12 defect; ADP platelet receptor P2Y12 defect; P2Y12 defect; Bleeding disorder due to ADP platelet receptor P2Y12 defect; Bleeding disorder due to P2Y12 defect; Bleeding disorder, platelet-type 8; Bleeding disorder due to P2RX1 defect, somatic See More
Categories:
Blood Diseases; Congenital and Genetic Diseases

Summary Summary


Listen
Bleeding disorder due to P2RY12 defect affects the way the platelets function. Platelets are important for helping the blood to clot. Symptoms of a bleeding disorder due to P2RY12 defect include frequent nose bleeds, easy bruising, and excessive bleeding after surgery or an accident. These symptoms can vary from person to person. This condition is very rare and it's not clear how it changes over time. Bleeding disorder due to a P2RY12 defect occur due to a variant in the P2RY12 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, and the results of specialized laboratory testing. Treatment is focused on managing the symptoms, and may involve blood transfusions, and/or medications that help the blood clot.[1][2][3][4][5]
Last updated: 11/13/2020

Symptoms Symptoms


Listen
The following list includes the most common signs and symptoms in people with bleeding disorder due to P2RY12 defect. These features may be different from person to person. Some people may have more symptoms than others and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms of bleeding disorder due to P2RY12 defect may include:[2][3] 
  • Frequent nosebleeds (epistaxis)
  • Easy bruising
  • Excess bleeding after surgery or an accident
Excessive bleeding in this condition can begin at any time, and continues throughout life. Women with bleeding disorder due to P2RY12 defect may have very heavy periods. Very few people with a bleeding disorder due to P2RY12 defect have been reported. How or if the symptoms of this condition change over time is not known.
Last updated: 11/13/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 7 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ]
0000978
Ecchymosis 0031364
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ]
0000421
Impaired ADP-induced platelet aggregation 0004866
Persistent bleeding after trauma
Excessive bleeding after minor trauma
Frequent bleeding with trauma
Prolonged bleeding after minor trauma
[ more ]
0001934
Prolonged bleeding after surgery
Excessive bleeding during surgery
Protracted bleeding after surgery
[ more ]
0004846
Showing of 7 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021

Cause Cause


Listen
Bleeding disorder due to P2RY12 defect occurs when the P2RY12 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[2][3]

Last updated: 11/13/2020

Inheritance Inheritance


Listen
Bleeding disorder due to P2RY12 defect is inherited in an autosomal recessive pattern.[2][3] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must have a pathogenic variant to have the condition.
  
People with autosomal recessive conditions inherit one variant from each of their parents. The parents, who each have one gene variant, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Last updated: 11/13/2020

Diagnosis Diagnosis


Listen
Bleeding disorder due to P2RY12 defect is diagnosed based on the symptoms, clinical exam, and special lab tests that measure how platelets work under specific circumstances.[2][3][5] The results of genetic testing may be helpful for diagnosis as well.
Last updated: 11/13/2020

Treatment Treatment


Listen
Treatment of bleeding disorder due to P2RY12 defect is focused on managing the symptoms. Treatment may include compression, blood transfusions, or medications to help manage the excessive bleeding.[1]
Last updated: 11/13/2020

Statistics Statistics


Listen
It is unclear how many people have bleeding disorder due to P2RY12 defect. There have been about twenty cases reported in the medical literature.[3]
Last updated: 11/13/2020
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


Listen

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More


Listen

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

GARD Answers GARD Answers


Listen

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Dupuis A, Gachet C. Inherited platelet disorders : Management of the bleeding risk. Transfus Clin Biol. Sep 2018; 25(3):228-235. https://pubmed.ncbi.nlm.nih.gov/30077511/.
  2. Lecchi A, Razzari C, Paoletta S, Dupuis A, Nakamura L, Ohlmann P, et al. Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis. Blood. Feb 5, 2015; 125(6):1006-1013. https://pubmed.ncbi.nlm.nih.gov/25428217/.
  3. Lecchi A, Femia EA,Paoletta S, Dupuis A, Ohlmann P, Gachet C, Jacobson KA, Machura K, Podda GM, Zieger B, Cattaneo M. Inherited dysfunctional platelet P2Y12 receptor mutations associated with bleeding disorders. Hamostaseologie. Nov 7, 2016; 36(4):279-283. https://pubmed.ncbi.nlm.nih.gov/27487748/.
  4. Remijn JA, IJsseldijk MJ, Strunk AL, Abbes AP, Engel H, Dikkeschei B, Dompeling EC, de Groot PG, Slingerland RJ. Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis. Clin Chem Lab Med. 2007; 45(2):187-9. https://pubmed.ncbi.nlm.nih.gov/17311506/.
  5. Cattaneo M. The platelet P2Y12 receptor for adenosine diphosphate: congenital and drug-induced defects.. Blood. Feb 5, 2011; 117(7):2102-12. https://pubmed.ncbi.nlm.nih.gov/20966167/.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen