von Willebrand disease 1
Findings
No curated finding names von Willebrand disease 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).
Definition from the Mondo Disease Ontology (MONDO:0008668), read 2026-09-29. CC BY 4.0.
Features
5 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.
- EpistaxisHPOHP:0000421
- 8 of 12 reported patients
- Bruising susceptibilityHPOHP:0000978
- 5 of 12 reported patients
- Persistent bleeding after traumaHPOHP:0001934
- 4 of 12 reported patients
- Prolonged bleeding after dental extractionHPOHP:0006298
- 4 of 12 reported patients
- Prolonged bleeding after surgeryHPOHP:0004846
- 4 of 12 reported patients
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 dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: von Willebrand disease 1
- Also called
- von Willebrand disease type 1von willebrand's disease 1von Willebrand's disease type 1VWD1