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hereditary von Willebrand disease

MONDO:0019565Mondo

Findings

No curated finding names hereditary von Willebrand disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).

Definition from the Mondo Disease Ontology (MONDO:0019565), read 2026-09-29. CC BY 4.0.

Features

20 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.

Abnormal platelet functionHPOHP:0011869
- Very frequent (80% to 99% of cases)
Abnormality of coagulationHPOHP:0001928
- Very frequent (80% to 99% of cases)
Abnormality of thrombocytesHPOHP:0001872
- Very frequent (80% to 99% of cases)
Reduced von Willebrand factor activityHPOHP:0008330
- Very frequent (80% to 99% of cases)
Abnormal mitral valve morphologyHPOHP:0001633
- Frequent (30% to 79% of cases)
Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)

Show the remaining 8

Gastrointestinal hemorrhageHPOHP:0002239
- Occasional (5% to 29% of cases)
Joint hemorrhageHPOHP:0005261
- Occasional (5% to 29% of cases)
Microcytic anemiaHPOHP:0001935
- Occasional (5% to 29% of cases)
Muscle hemorrhageHPOHP:0040242
- Occasional (5% to 29% of cases)
PetechiaeHPOHP:0000967
- Occasional (5% to 29% of cases)
Prolonged partial thromboplastin timeHPOHP:0003645
- Occasional (5% to 29% of cases)

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
- Definitive · ClinGen · Autosomal dominant · 2020

Where it sits

A kind of: hemorrhagic disease
inherited blood coagulation disorder
von Willebrand disease (hereditary or acquired)
Narrower terms (5): platelet-type von Willebrand disease
von Willebrand disease 1
von Willebrand disease 2
von Willebrand disease 3
Von Willebrand disease, X-linked form

Other names

2 names

Resolves to: hereditary von Willebrand disease

Also called: congenital von willebrand's diseasehereditary von Willebrand disease (hereditary or acquired)