platelet-type bleeding disorder 8
Findings
No curated finding names platelet-type bleeding disorder 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A platelet type bleeding disorder of autosomal recessive inheritance caused by a variation in the P2RY12 gene, 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.
Definition from the Mondo Disease Ontology (MONDO:0012354), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal bleedingHPOHP:0001892
- Bruising susceptibilityHPOHP:0000978
- EpistaxisHPOHP:0000421
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- Persistent bleeding after traumaHPOHP:0001934
- Prolonged bleeding after surgeryHPOHP:0004846
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- P2RY12HGNC:18124
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
3 names
Resolves to: platelet-type bleeding disorder 8
- Also called
- BDPLT8bleeding disorder, platelet-type 8P2RY12-related platelet disorder, autosomal recessive