von Willebrand disease 3
Findings
No curated finding names von Willebrand disease 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).
Definition from the Mondo Disease Ontology (MONDO:0010191), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Reduced factor VIII activityHPOHP:0003125
- 1 of 1 reported patient
- Reduced von Willebrand factor activityHPOHP:0008330
- 1 of 1 reported patient
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.
- VWFHGNC:12726
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: von Willebrand disease 3
- Also called
- von Willebrand disease type 3von Willebrand's disease 3von Willebrand's disease type 3VWD3