Disease Profile

Bleeding disorder due to P2RY12 defect

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

Childhood

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ICD-10

D69.8

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

ADP platelet receptor P2Y12 defect; P2Y12 defect; Bleeding disorder due to ADP platelet receptor P2Y12 defect;

Categories

Blood Diseases; Congenital and Genetic Diseases

Summary

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]

Symptoms

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.

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.

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

Cause

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]

Diagnosis

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.

Treatment

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]

Learn More

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.

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/.