Von Willebrand disease type 3

General Information (adopted from Orphanet):

Synonyms, Signs: VWD, TYPE 3
VON WILLEBRAND DISEASE, TYPE III
VWD3
Willebrand disease type 3
Number of Symptoms 15
OrphanetNr: 166096
OMIM Id: 277480
ICD-10: D68.0
UMLs: C1264041
MeSH: D056729
MedDRA:
Snomed: 128108002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Von Willebrand disease
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000132) Menorrhagia 40 / 7739
2
(HPO:0000421) Epistaxis 85 / 7739
3
(HPO:0005261) Joint hemorrhage occasional [HPO:probinson] 17 / 7739
4
(HPO:0000978) Bruising susceptibility 123 / 7739
5
(HPO:0001873) Thrombocytopenia 224 / 7739
6
(HPO:0003540) Impaired platelet aggregation 17 / 7739
7
(HPO:0003010) Prolonged bleeding time 88 / 7739
8
(HPO:0008330) Reduced von Willebrand factor activity 2 / 7739
9
(HPO:0003125) Reduced factor VIII activity 13 / 7739
10
(HPO:0001934) Persistent bleeding after trauma 8 / 7739
11
(OMIM) Mucocutaneous bleeding 7 / 7739
12
(OMIM) Hemarthrosis may occur 1 / 7739
13
(OMIM) Prolonged bleeding after surgery or trauma 1 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Severely decreased antigen levels of VWF and factor VIII 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Von Willebrand disease is a bleeding disorder resulting from a defect in platelet aggregation due to defects in the von Willebrand factor protein. Type 3 von Willebrand disease, which is inherited as an autosomal recessive disorder, is associated ...
Clinical Description OMIM Von Willebrand (1926, 1931) discovered a hemorrhagic condition in persons living on the Aland Islands in the Sea of Bothnia between Sweden and Finland and called it 'pseudohemophilia.' (See 300600 for another Aland Island disease.) The main difference ...
Genotype-Phenotype Correlations OMIM Shelton-Inloes et al. (1987) found a correlation between the development of alloantibodies to VWF and the nature of the genetic lesion in VWD. Alloantibodies to VWF have been described only in the severe type 3 disease. Shelton-Inloes et ...
Molecular genetics OMIM Ngo et al. (1988) studied the genomic DNA from 10 affected persons from 6 families with severe von Willebrand disease, characterized by undetectable or trace quantities of VWF in plasma and tissue stores. Four patients from 1 family ...
Population genetics OMIM Lillicrap (2009) stated that VWD type 3 varies in incidence from frequencies of 1 per 500,000 to 1 per million in many Western countries, to figures as high as 6 per million in countries where consanguineous marriages are ...