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.

Bleeding disorder due to P2RY12 defect is inherited in an autosomal recessive pattern. 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.

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:

• 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.