platelet-type bleeding disorder 12
MONDO:0011588Mondo
Findings
No curated finding names platelet-type bleeding disorder 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.
Definition from the Mondo Disease Ontology (MONDO:0011588), read 2026-09-29. CC BY 4.0.
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.
- PTGS1HGNC:9604
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Semidominant · 2023
Where it sits
Other names
4 names
Resolves to: platelet-type bleeding disorder 12
- Also called
- BDPLT12PGHS1 deficiencyplatelet COX1 deficiencyplatelet cyclooxygenase 1 deficiency