Von Willebrand disease type 1

General Information (adopted from Orphanet):

Synonyms, Signs: VON WILLEBRAND DISEASE, TYPE I
VWD, TYPE 1
VWD1
Willebrand disease type 1
Number of Symptoms 19
OrphanetNr: 166078
OMIM Id: 193400
ICD-10: D68.0
UMLs: C1264039
MeSH: D056725
MedDRA:
Snomed: 128106003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[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 17 / 7739
4
(HPO:0000471) Gastrointestinal angiodysplasia 3 / 7739
5
(HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
6
(HPO:0000978) Bruising susceptibility 123 / 7739
7
(HPO:0001650) Aortic valve stenosis 49 / 7739
8
(HPO:0001634) Mitral valve prolapse 69 / 7739
9
(HPO:0003540) Impaired platelet aggregation 17 / 7739
10
(HPO:0003125) Reduced factor VIII activity 13 / 7739
11
(HPO:0003010) Prolonged bleeding time 88 / 7739
12
(HPO:0005542) Prolonged whole-blood clotting time 5 / 7739
13
(HPO:0003829) Incomplete penetrance 85 / 7739
14
(OMIM) Mucocutaneous bleeding 7 / 7739
15
(OMIM) Decreased levels of plasma factor VIII 1 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(OMIM) Defect in platelet aggregation 6 / 7739
18
(OMIM) Decreased levels of plasma VWF antigen 1 / 7739
19
(OMIM) Prolonged bleeding time due to quantitative decrease of VWF protein 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. The disorder results from a defect in platelet aggregation ...
Clinical Description OMIM Type 1 VWD is the most frequent type of von Willebrand disease. However, laboratory aspects of diagnosis rely on phenotypic assays of VWF which have an uncertain relationship with VWF function in vivo and with clinical bleeding. Type ...
Molecular genetics OMIM Sadler and Ginsburg (1993) reported on a database of polymorphisms in the VWF gene and pseudogene; Ginsburg and Sadler (1993) reported on a database of point mutations, insertions, and deletions.

Eikenboom et al. (1996) described a ...

Population genetics OMIM Miller et al. (1986) ascertained and studied 5 families with both VWD and hemophilia A. This suggested to them that VWD is a rather frequent disorder. They proposed 1.4% as the frequency of VWD heterozygotes.

A ...