raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:166096

Von Willebrand disease type 3

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal
Status
active

A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enVon Willebrand disease type 3
frMaladie de von Willebrand type 3
deVon-Willebrand-Erkrankung Typ 3Von-Willebrand-Syndrom Typ 3 · VWE Typ 3
esEnfermedad de Von Willebrand tipo 3
itMalattia di von Willebrand, tipo 3Malattia di Willebrand, tipo 3
nlZiekte van von Willebrand type 3
ptDoença de Von Willebrand, tipo 3
plChoroba von Willebranda typu 3Choroba Willebranda typu 3
csVon Willebrandova nemoc, typ 3
ukХвороба фон Віллебранда, тип 3
zh血管性血友病3型
trVon Willebrand hastalığı tip 3

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM277480Evalidated
ICD-10D68.0NTBTattributedvalidated
ICD-113B12NTBTindexvalidated
MONDO0010191Evalidated
MeSHD056729Evalidated
UMLSC1264041Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
VWFDisease-causing germline mutation(s) inAssessedHGNC:12726ENSG0000011079961316012p13.31von Willebrand factor20301765[PMID]
5

Prevalence and incidence

13 records
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 1 000 0000.1865 / 100 000WorldwideValue and classValidated30306084[PMID]_33780098[PMID]_ORPHANET
Point prevalence<1 / 1 000 0000.037 / 100 000AustriaValue and classValidated6609712[PMID]
Point prevalence<1 / 1 000 0000.24 / 100 000FinlandValue and classValidated6609712[PMID]
Point prevalence<1 / 1 000 0000.016 / 100 000FranceValue and classValidated6609712[PMID]
Prevalence at birth<1 / 1 000 0000.044 / 100 000GreeceValue and classValidated6609712[PMID]
Point prevalence<1 / 1 000 0000.16 / 100 000IsraelValue and classValidated6609712[PMID]
Point prevalence<1 / 1 000 0000.055 / 100 000ItalyValue and classValidated6609712[PMID]
Point prevalence<1 / 1 000 0000.037 / 100 000NetherlandsValue and classValidated6609712[PMID]
Point prevalence1-9 / 1 000 0000.25 / 100 000NorwayValue and classValidated6609712[PMID]
Point prevalence<1 / 1 000 0000.022 / 100 000PortugalValue and classValidated6609712[PMID]
Point prevalence<1 / 1 000 0000.011 / 100 000SpainValue and classValidated6609712[PMID]
Point prevalence1-9 / 1 000 0000.312 / 100 000SwedenValue and classValidated6609712[PMID]
Point prevalence<1 / 1 000 0000.027 / 100 000United KingdomValue and classValidated6609712[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card