VWD1
MCID: VNW005
MIFTS: 46

Von Willebrand Disease, Type 1 (VWD1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Von Willebrand Disease, Type 1

MalaCards integrated aliases for Von Willebrand Disease, Type 1:

Name: Von Willebrand Disease, Type 1 57 13 44 40 73
Von Willebrand Disease Type 1 12 59 29 6
Vwd1 57 12 75
Von Willebrand Disease Type I 12 75
Von Willebrand's Disease 1 12 15
Von Willebrand Disease, Type 1, Susceptibility to 6
Von Willebrand Factor Deficiency Type 1 75
Von Willebrand Disease, Type I 57
Von Willebrand Disease 1 75
Vwd, Type 1 57
Vwd Type 1 12

Characteristics:

Orphanet epidemiological data:

59
von willebrand disease type 1
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
incomplete penetrance
variably expressivity
most common inherited bleeding disorder


HPO:

32
von willebrand disease, type 1:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 193400
Disease Ontology 12 DOID:0060573
MeSH 44 D056725
NCIt 50 C131685
Orphanet 59 ORPHA166078
MESH via Orphanet 45 D056725
UMLS via Orphanet 74 C1264039
ICD10 via Orphanet 34 D68.0
MedGen 42 C1264039
UMLS 73 C1264039

Summaries for Von Willebrand Disease, Type 1

OMIM : 57 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 due to defects in the von Willebrand factor protein. Von Willebrand factor is a large, multimeric protein that plays a role in platelet adhesion and also serves as a carrier for the thrombotic protein factor VIII (F8; 300841). F8 is mutated in hemophilia A (summary by Goodeve, 2010). For a review of the various forms of von Willebrand disease, see Leebeek and Eikenboom (2016). (193400)

MalaCards based summary : Von Willebrand Disease, Type 1, also known as von willebrand disease type 1, is related to von willebrand disease, type 2 and von willebrand disease, type 3. An important gene associated with Von Willebrand Disease, Type 1 is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Tranexamic Acid and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include whole blood and heart, and related phenotypes are gastrointestinal angiodysplasia and mitral valve prolapse

Disease Ontology : 12 A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material basis in heterozygous mutation in the VWF gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 75 von Willebrand disease 1: A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.

Related Diseases for Von Willebrand Disease, Type 1

Diseases in the Von Willebrand's Disease family:

Pseudo-Von Willebrand Disease Von Willebrand Disease, Type 1
Von Willebrand Disease, Type 3 Von Willebrand Disease, Type 2
Acquired Von Willebrand Syndrome

Diseases related to Von Willebrand Disease, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 2 31.4 VWF GP6 F8 F3
2 von willebrand disease, type 3 31.1 VWF GP6 F8 F3
3 von willebrand's disease 30.5 VWF F8 F3 F2
4 hemophilia 29.5 VWF F8 F3 F2
5 fainting 10.1 VWF F8
6 cerebral arteritis 10.1 VWF F8
7 active peptic ulcer disease 10.1 VWF F2
8 acquired von willebrand syndrome 10.1 VWF F8
9 hemarthrosis 10.1 VWF F8
10 vitamin k deficiency hemorrhagic disease 10.1 F8 F2
11 spotted fever 10.1 F2 VWF
12 cardiac tamponade 10.1 F8 F2
13 livedoid vasculitis 10.1 F8 F2
14 thrombophlebitis 10.1 F8 F2
15 post-thrombotic syndrome 10.1 F2 F8
16 compartment syndrome 10.0 F2 F8
17 lymphangiosarcoma 10.0 F8 VWF
18 venous insufficiency 10.0 F2 VWF
19 retinal artery occlusion 10.0 F2 F8
20 intermittent claudication 10.0 F2 VWF
21 primary thrombocytopenia 10.0 GP6 VWF
22 factor xii deficiency 10.0
23 ehlers-danlos syndrome 10.0
24 classic ehlers-danlos syndrome 10.0
25 varicose veins 10.0 F2 VWF
26 thrombasthenia 10.0 F2 F3
27 hemorrhagic fever 10.0 F2 F3
28 gray platelet syndrome 10.0 GP6 VWF
29 portal hypertension 10.0 F2 VWF
30 cerebral falx meningioma 10.0 F3 F2
31 acquired hemophilia 10.0 F8 F3
32 acquired hemophilia a 10.0 F8 F3
33 intestinal impaction 10.0 F3 F2
34 prothrombin deficiency 10.0 F3 F2
35 leech infestation 10.0 F3 F2
36 cerebral sinovenous thrombosis 10.0 F3 F2
37 giant hemangioma 10.0 F3 F2
38 sagittal sinus thrombosis 10.0 F3 F2
39 grange syndrome 10.0 F3 VWF
40 femoral neuropathy 10.0 F3 F2
41 blue toe syndrome 10.0 F3 F2
42 hantavirus pulmonary syndrome 10.0 F3 F2
43 anterior cranial fossa meningioma 10.0 F3 F2
44 vascular hemostatic disease 10.0 F3 F2
45 marantic endocarditis 10.0 F3 F2
46 splenic disease 10.0 F3 F2
47 intermediate coronary syndrome 9.9 F3 VWF
48 purpura fulminans 9.9 F3 F2
49 hepatic infarction 9.9 F3 F2
50 factor xiii deficiency 9.9 F3 F8

Graphical network of the top 20 diseases related to Von Willebrand Disease, Type 1:



Diseases related to Von Willebrand Disease, Type 1

Symptoms & Phenotypes for Von Willebrand Disease, Type 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
epistaxis

Hematology:
menorrhagia
prolonged bleeding time due to quantitative decrease of vwf protein
defect in platelet aggregation
mucocutaneous bleeding

Laboratory Abnormalities:
decreased levels of plasma vwf antigen
decreased levels of plasma factor viii

Genitourinary Internal Genitalia Female:
menorrhagia

Skin Nails Hair Skin:
easy bruisability


Clinical features from OMIM:

193400

Human phenotypes related to Von Willebrand Disease, Type 1:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 gastrointestinal angiodysplasia 32 HP:0000471
2 mitral valve prolapse 32 HP:0001634
3 gastrointestinal hemorrhage 32 HP:0002239
4 epistaxis 32 HP:0000421
5 bruising susceptibility 32 HP:0000978
6 prolonged bleeding time 32 HP:0003010
7 menorrhagia 32 HP:0000132
8 aortic valve stenosis 32 HP:0001650
9 abnormality of the genitourinary system 32 HP:0000119
10 joint hemorrhage 32 HP:0005261
11 reduced factor viii activity 32 HP:0003125
12 impaired platelet aggregation 32 HP:0003540
13 prolonged whole-blood clotting time 32 HP:0005542

MGI Mouse Phenotypes related to Von Willebrand Disease, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.65 F2 F3 F8 GP6 VWF
2 homeostasis/metabolism MP:0005376 9.55 F2 F3 F8 GP6 VWF
3 immune system MP:0005387 9.35 F2 F3 F8 GP6 VWF
4 mortality/aging MP:0010768 9.02 F2 F3 F8 GP6 VWF

Drugs & Therapeutics for Von Willebrand Disease, Type 1

Drugs for Von Willebrand Disease, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2 Coagulants Phase 3,Phase 2
3 Hemostatics Phase 3,Phase 2
4 Antifibrinolytic Agents Phase 3
5
Oprelvekin Approved, Investigational Phase 2 145941-26-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Minimize Menorrhagia in Women With Type 1 Von Willebrand Disease Not yet recruiting NCT02606045 Phase 3 recombinant von Willebrand factor;tranexamic acid
2 IL-11 in Women With Von Willebrand Disease and Refractory Menorrhagia Completed NCT00524342 Phase 2 Oprelvekin, Interleukin 11, IL-11
3 Phase II Study of IL-11 (Neumega) in Von Willebrand Disease Completed NCT00151125 Phase 2 recombinant interleukin-11;recombinant interleukin-11;recombinant interleukin-11
4 IL-11 in Adults With Von Willebrand Disease Undergoing Surgery Terminated NCT00524225 Phase 2 Neumega (Oprelvekin, Interleukin 11, IL-11)

Search NIH Clinical Center for Von Willebrand Disease, Type 1

Cochrane evidence based reviews: von willebrand disease, type 1

Genetic Tests for Von Willebrand Disease, Type 1

Genetic tests related to Von Willebrand Disease, Type 1:

# Genetic test Affiliating Genes
1 Von Willebrand Disease Type 1 29 VWF

Anatomical Context for Von Willebrand Disease, Type 1

MalaCards organs/tissues related to Von Willebrand Disease, Type 1:

41
Whole Blood, Heart

Publications for Von Willebrand Disease, Type 1

Articles related to Von Willebrand Disease, Type 1:

(show all 18)
# Title Authors Year
1
von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina. ( 29271313 )
2018
2
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )
2016
3
von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients. ( 27785872 )
2016
4
Droplet-Shaped Deep Intraretinal Hemorrhage as Initial Presentation of Von Willebrand Disease Type 1. ( 27842199 )
2016
5
Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. ( 19506353 )
2009
6
Managing patients with von Willebrand disease type 1, 2 and 3 with desmopressin and von Willebrand factor-factor VIII concentrate in surgical settings. ( 19506363 )
2009
7
Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio. ( 19506359 )
2009
8
Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. ( 19506356 )
2009
9
PFA-100 monitoring of von Willebrand factor (VWF) responses to desmopressin (DDAVP) and factor VIII/VWF concentrate substitution in von Willebrand disease type 1 and 2. ( 18766263 )
2008
10
Intravenous DDAVP and factor VIII-von Willebrand factor concentrate for the treatment and prophylaxis of bleedings in patients With von Willebrand disease type 1, 2 and 3. ( 17164493 )
2007
11
Genetics of von Willebrand disease type 1. ( 17003254 )
2006
12
Management quandary. Menorrhagia in a teenager: Von Willebrand disease type 1. ( 15010043 )
2004
13
Slippery criteria for von Willebrand disease type 1. ( 15456481 )
2004
14
Platelet membrane glycoprotein polymorphisms do not influence the clinical expressivity of von Willebrand disease type 1. ( 14652648 )
2003
15
Von Willebrand disease type 1: a diagnosis in search of a disease. ( 12411289 )
2003
16
Preoperative screening for von Willebrand disease type 1: low yield and limited ability to predict bleeding. ( 10595788 )
1999
17
Combination of von Willebrand disease type 1 and partial factor XII deficiency in children: clinical evidence for a diminished bleeding tendency. ( 10591425 )
1999
18
Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1. ( 8903002 )
1996

Variations for Von Willebrand Disease, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Von Willebrand Disease, Type 1:

75
# Symbol AA change Variation ID SNP ID
1 VWF p.Arg273Trp VAR_010242 rs61753997
2 VWF p.Cys1149Arg VAR_064925 rs61748511

ClinVar genetic disease variations for Von Willebrand Disease, Type 1:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh37 Chromosome 12, 6143978: 6143978
2 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh38 Chromosome 12, 6034812: 6034812
3 VWF NM_000552.4(VWF): c.4975C> T (p.Arg1659Ter) single nucleotide variant Pathogenic rs61750595 GRCh37 Chromosome 12, 6127609: 6127609
4 VWF NM_000552.4(VWF): c.4975C> T (p.Arg1659Ter) single nucleotide variant Pathogenic rs61750595 GRCh38 Chromosome 12, 6018443: 6018443
5 VWF NM_000552.4(VWF): c.5557C> T (p.Arg1853Ter) single nucleotide variant Pathogenic rs61750612 GRCh37 Chromosome 12, 6122710: 6122710
6 VWF NM_000552.4(VWF): c.5557C> T (p.Arg1853Ter) single nucleotide variant Pathogenic rs61750612 GRCh38 Chromosome 12, 6013544: 6013544
7 VWF NM_000552.4(VWF): c.3614G> A (p.Arg1205His) single nucleotide variant Pathogenic rs121964895 GRCh37 Chromosome 12, 6131126: 6131126
8 VWF NM_000552.4(VWF): c.3614G> A (p.Arg1205His) single nucleotide variant Pathogenic rs121964895 GRCh38 Chromosome 12, 6021960: 6021960
9 VWF NM_000552.4(VWF): c.3445T> C (p.Cys1149Arg) single nucleotide variant Pathogenic rs61748511 GRCh37 Chromosome 12, 6131999: 6131999
10 VWF NM_000552.4(VWF): c.3445T> C (p.Cys1149Arg) single nucleotide variant Pathogenic rs61748511 GRCh38 Chromosome 12, 6022833: 6022833
11 VWF NM_000552.4(VWF): c.4751A> G (p.Tyr1584Cys) single nucleotide variant risk factor rs1800386 GRCh37 Chromosome 12, 6127833: 6127833
12 VWF NM_000552.4(VWF): c.4751A> G (p.Tyr1584Cys) single nucleotide variant risk factor rs1800386 GRCh38 Chromosome 12, 6018667: 6018667
13 VWF VWF, 8.6-KB DEL, EX4-5 deletion Pathogenic
14 VWF NM_000552.4(VWF): c.2279G> A (p.Arg760His) single nucleotide variant Pathogenic rs61748467 GRCh37 Chromosome 12, 6155891: 6155891
15 VWF NM_000552.4(VWF): c.2279G> A (p.Arg760His) single nucleotide variant Pathogenic rs61748467 GRCh38 Chromosome 12, 6046725: 6046725
16 VWF NM_000552.4(VWF): c.1922C> T (p.Ala641Val) single nucleotide variant Uncertain significance rs61754019 GRCh37 Chromosome 12, 6166046: 6166046
17 VWF NM_000552.4(VWF): c.1922C> T (p.Ala641Val) single nucleotide variant Uncertain significance rs61754019 GRCh38 Chromosome 12, 6056880: 6056880
18 VWF NM_000552.4(VWF): c.2570A> G (p.Asn857Ser) single nucleotide variant Uncertain significance rs765163545 GRCh37 Chromosome 12, 6143969: 6143969
19 VWF NM_000552.4(VWF): c.2570A> G (p.Asn857Ser) single nucleotide variant Uncertain significance rs765163545 GRCh38 Chromosome 12, 6034803: 6034803

Expression for Von Willebrand Disease, Type 1

Search GEO for disease gene expression data for Von Willebrand Disease, Type 1.

Pathways for Von Willebrand Disease, Type 1

Pathways related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 F2 F3 F8 GP6 VWF
2
Show member pathways
12.27 F2 F3 F8
3 11.55 GP6 VWF
4
Show member pathways
11.42 F2 VWF
5 11.4 F2 F3 F8 VWF
6 11.35 F3 VWF
7
Show member pathways
11.22 F2 F3 F8 GP6 VWF
8 11.04 F2 GP6 VWF
9 10.44 GP6 VWF

GO Terms for Von Willebrand Disease, Type 1

Cellular components related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 F8 VWF

Biological processes related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.46 F2 F8 GP6 VWF
2 blood coagulation, intrinsic pathway GO:0007597 9.43 F2 F8 VWF
3 platelet degranulation GO:0002576 9.4 F8 VWF
4 response to wounding GO:0009611 9.37 F2 VWF
5 blood coagulation GO:0007596 9.35 F2 F3 F8 GP6 VWF
6 acute-phase response GO:0006953 9.32 F2 F8
7 hemostasis GO:0007599 9.02 F2 F3 F8 GP6 VWF

Molecular functions related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.96 F3 VWF
2 collagen binding GO:0005518 8.62 GP6 VWF

Sources for Von Willebrand Disease, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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