Quebec platelet disorder
MONDO:0011136Mondo
Findings
No curated finding names Quebec platelet disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A platelet granule disorder caused by a variation in the PLAU gene, characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.
Definition from the Mondo Disease Ontology (MONDO:0011136), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
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.
- PLAUHGNC:9052
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
Other names
3 names
Resolves to: Quebec platelet disorder
- Also called
- BDPLT5factor V QuebecQPD