platelet-type von Willebrand disease
Findings
No curated finding names platelet-type von Willebrand disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A bleeding disorder caused by a variation in the GP1BA gene that increases the affinity of platelet GPIbα for von Willebrand factor (vWF), characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. Diagnostic laboratory findings include enhanced ristocetin‑induced agglutination and features that mimic type 2B VWD despite a primary platelet defect. Functional studies in human platelets demonstrate abnormally increased vWF binding and hyperresponsiveness, consistent with enhanced GPIbα‑vWF interactions described in patient cells.
Definition from the Mondo Disease Ontology (MONDO:0008332), 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.
- GP1BAHGNC:4439
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: platelet-type von Willebrand disease
- Also called
- BDPLT3platelet type-von Willebrand diseasepseudo-von Willebrand diseasepseudo-von Willebrand disease type 2BPT-VWDVon Willebrand disease, platelet typeVWDP