Bleeding disorder due to P2Y12 defect

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Bleeding disorder due to P2Y12 defect

ORPHA:36355Disease

Also called Bleeding disorder due to ADP platelet receptor P2Y12 defect

What it is

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.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Childhood
Inheritance
Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

P2RY12Disease-causing germline mutation(s)

ICD-10 codes

D69.1filed under a broader ICD-10 category — shared with 14 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 12478MONDO 0012354OMIM 609821UMLS C4510945

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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