VWD
MCID: VNW001
MIFTS: 69

Von Willebrand's Disease (VWD) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Cardiovascular diseases categories
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Summaries for Von Willebrand's Disease

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. Mild forms of von Willebrand disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Women with this condition typically have heavy or prolonged bleeding during menstruation (menorrhagia), and some may also experience reproductive tract bleeding during pregnancy and childbirth. In severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Symptoms of von Willebrand disease may change over time. Increased age, pregnancy, exercise, and stress may cause bleeding symptoms to become less frequent.

MalaCards: Von Willebrand's Disease, also known as von willebrand disease, is related to pseudo-von willebrand disease and angiodysplasia. An important gene associated with Von Willebrand's Disease is VWF (von Willebrand factor), and among its related pathways are Platelet Adhesion to exposed collagen and Integrin alphaIIb beta3 signaling. The drugs desmopressin and factor viii and the compounds recombinate and kogenate have been mentioned in the context of this disorder. Affiliated tissues include testes, endothelial and liver, and related mouse phenotypes are mortality/aging and immune system.

Disease Ontology:8 A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. it arises from a qualitative or quantitative deficiency of von willebrand factor (vwf), a multimeric protein that is required for platelet adhesion.

NIH Rare Diseases:43 Von willebrand disease is a bleeding disorder that slows the blood clotting process. people with this condition often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. in severe cases, heavy bleeding occurs after minor trauma or even in the absence of injury. milder forms of von willebrand disease do not involve spontaneous bleeding, and the condition may become apparent only when abnormal bleeding occurs following surgery or a serious injury. symptoms may change over time. increased age, pregnancy, exercise, and stress may make bleeding symptoms may become less frequent. this condition is caused by mutations in the vwf gene and can have different inheritance patterns. last updated: 9/15/2011

Wikipedia:65 Von Willebrand disease (vWD) (/?f?n?v?l?br??nt/) is the most common hereditary coagulation abnormality... more...

Description from OMIM:47 193400,277480,613554

GeneReviews summary for von-willebrand

Aliases & Classifications for Von Willebrand's Disease

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 45Novoseek, 62UMLS, 20GeneTests, 22GTR, 10DISEASES, 58SNOMED-CT, 35MeSH, 40NCIt, 47OMIM, 27ICD9CM, 25ICD10
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Classifications:



Aliases & Descriptions:

von willebrand's disease 8
von willebrand disease 8 19 43 21 45 62
von willebrand disorder 8 20 22 21
vascular pseudohemophilia 8 21
von willebrand's factor deficiency 21
von willebrand's-jurgens' disease 8
von willebrand factor, deficiency 43
von willebrand factor deficiency 19
von willebrand-jrgens disease 8
von willebrands disease 10
vascular hemophilia 8
angiohemophilia 21
vwd 43


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Disease Ontology8 DOID:12531
MeSH35 D014842
NCIt40 C68677
ICD9CM27 286.4
ICD1025 D68.0

Related Diseases for Von Willebrand's Disease

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17GeneCards, 18GeneDecks
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Diseases related to Von Willebrand's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1pseudo-von willebrand disease31.3VWF, GP1BA
2angiodysplasia31.1VWF
3thrombocytopenia30.6GP1BA, F8, F3, ADAMTS13, SELP, VWF
4hemophilia b30.6F11, F8, F3
5factor viii deficiency30.6F3, F8
6factor xii deficiency30.5VWF, F3
7atherosclerosis30.3VWF, SELP, F3
8blood platelet disease30.2VWF, GP1BA, F8
9bernard-soulier syndrome30.2VWF, GP1BA, F8
10hypothyroidism30.2VWF, F8
11factor vii deficiency30.2F3, F8
12hemarthrosis30.2F8, F3, VWF
13factor xi deficiency30.1F3, F11, F8
14afibrinogenemia30.1F3, VWF, F11, F8
15thrombocytosis30.1SELP, GP1BA, VWF, F3
16systemic lupus erythematosus30.1VWF, ADAMTS13, F3, F8
17hemorrhagic disease30.0VWF, F11, F3, F8
18acute myocardial infarction29.9VWF, F3, ADAMTS13, SELP
19myocardial infarction29.9ADAMTS13, F8, SELP, F11, GP1BA, VWF
20type 1 von willebrand disease11.1
21type 2b von willebrand disease10.9
22type 2n von willebrand disease10.9
23type 2a von willebrand disease10.8
24type 2m von willebrand disease10.7
25von willebrand disease, types 2a, 2b, 2m, and 2n10.7
26hemophilia10.7
27type 3 von willebrand disease10.7
28von willibrand disease, type 310.6
29aortic valve stenosis10.4
30acquired von willebrand syndrome10.4
31thrombasthenia10.4
32endotheliitis10.4
33mild hemophilia a10.3
34severe hemophilia a10.3
35infiltrating lipoma10.1
36cryoglobulinemia10.1
37hereditary hemorrhagic telangiectasia10.1
38factor xiii deficiency10.1
39erythromelalgia10.1
40cleft lip10.1
41coats disease10.1
42duodenitis10.1
43aortic atherosclerosis10.1
44hepatitis a10.1
45qualitative platelet defect10.1
46noonan syndrome10.1
47arthropathy10.1
48congenital mesoblastic nephroma10.1
49craniosynostosis10.1
50endometriosis10.1

Graphical network of the top 20 diseases related to Von Willebrand's Disease:



Diseases related to von willebrand's disease

Symptoms for Von Willebrand's Disease

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47OMIM
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Clinical features from OMIM:

193400,277480,613554

Drugs & Therapeutics for Von Willebrand's Disease

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Genetic Tests for Von Willebrand's Disease

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20GeneTests, 22GTR
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Genetic tests related to Von Willebrand's Disease:

id Genetic test Affiliating Genes
1 Von Willebrand Disease20 VWF
2 Von Willebrand Disorder22

Anatomical Context for Von Willebrand's Disease

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33MalaCards
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MalaCards organs/tissues related to Von Willebrand's Disease:

33
Testes, Endothelial, Liver, Bone, Bone marrow, Colon, Thyroid, Heart, Whole blood, Lung, Tongue, Prostate

Animal Models for Von Willebrand's Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Von Willebrand's Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.2VWF, F11, SELP, ADAMTS13, F3, F8
2MP:00053876.9VWF, F11, SELP, ADAMTS13, F3, F8
3MP:00053976.7VWF, F8, F3, ADAMTS13, SELP, F11
4MP:00053766.6VWF, GP1BA, F11, SELP, ADAMTS13, F3

Publications for Von Willebrand's Disease

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52PubMed
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Articles related to Von Willebrand's Disease:

(show top 50)    (show all 514)
idTitleAuthorsYear
1
MASAC Consensus Conference: impediments to conducting clinical research in persons with haemophilia, von Willebrand's disease and rare bleeding disorders. (23051635)
2013
2
Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. (23167253)
2013
3
Treatment of haemophilia A and B and von Willebrand's disease: summary and conclusions of a systematic review as part of a Swedish health-technology assessment. (22151198)
2012
4
Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation. (22207689)
2012
5
Successful treatment of an injury bleeding on a patient suffering from mild von Willebrand's disease and predisposition to allergic diseases, with recombinant factor VIIA. (21070492)
2011
6
A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation. (20491956)
2010
7
Intraocular haemorrhages in von Willebrand's disease. (20408097)
2010
8
Clinical use of Haemate-P in inherited von Willebrand's disease: a patient with type 3 VWD and recurrent menometrorrhagia. (20059558)
2010
9
Redo-redo aortic root replacement with a mechanical valved conduit in a patient with von Willebrand's disease: Case report. (20707891)
2010
10
Laboratory diagnosis and monitoring of desmopressin treatment of von Willebrand's disease by flow cytometry. (18055988)
2007
11
Duodenal and gastric Dieulafoy's lesions in a patient with type 2A von Willebrand's disease. (15729257)
2005
12
Effectiveness of D-arginine vasopressin in von Willebrand's disease. (15610653)
2005
13
The role of the platelet function analyser (PFA-100) in the characterization of patients with von Willebrand's disease and its relationships with von Willebrand factor and the ABO blood group. (12694521)
2003
14
Coagulation abnormalities and acquired von Willebrand's disease type 1 in children receiving valproic acid. (11913569)
2002
15
Management of patients with Type 2B von Willebrand's disease during delivery and puerperium]. (12198592)
2002
16
Venous thrombosis following the use of intermediate purity FVIII concentrate to treat patients with von Willebrand's disease. (12353065)
2002
17
Evaluation of the PFA-100 system for monitoring desmopressin therapy in patients with type 1 von Willebrand's disease. (12031931)
2002
18
Combined hemophilia A and type 2 von Willebrand's disease: defect of both factor VIII level and factor VIII binding capacity of von Willebrand factor. (11602423)
2001
19
Type 2B von Willebrand's disease in thirteen individuals from five unrelated Australian families: phenotype and genotype correlations. (10706763)
2000
20
Severe hyponatraemia secondary to desmopressin therapy in von Willebrand's disease. (10788975)
2000
21
Comparison of the O'Brien filter test and the PFA-100 platelet analyzer in the laboratory diagnosis of von Willebrand's disease. (10928476)
2000
22
Potential central nervous system complications of von Willebrand's disease. (10493419)
1999
23
Type 2B von Willebrand's disease and angiodysplasia. (10595657)
1999
24
Two consecutive pregnancies and deliveries in a patient with von Willebrand's disease type 3. (10028308)
1998
25
Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis. (9681234)
1998
26
Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease. (9569179)
1998
27
Successful thrombolysis for acute myocardial infarction in Type I von Willebrand's disease (vWD) (9462554)
1998
28
Acquired von Willebrand's disease: a concise review. (9034288)
1997
29
Von Willebrand's disease. (9046981)
1997
30
1-Desamino-8-arginine-vasopressin corrects the hemostatic defects in type 2B von Willebrand's disease. (8579058)
1996
31
Practice guidelines and treatment of patients with von Willebrand's disease. (8712470)
1996
32
A case of recessive type 2N von Willebrand's disease due to Arg 53 Trp substitution. (7847341)
1995
33
Bleeding after tonsillectomy in severe von Willebrand's disease. (7798003)
1995
34
Survey of Irish wolfhounds in Australia for von Willebrand's disease. (8599574)
1995
35
Mathematical Analysis of Bleeding Time Data in Patients with Platelet Disorders and von Willebrand's Disease. (21043621)
1995
36
von Willebrand's factor and von Willebrand's disease. (9371306)
1994
37
Glanzmann's thrombasthenia with mild von Willebrand's disease. (8282841)
1993
38
von Willebrand's disease: laboratory investigation using an improved functional assay for von Willebrand factor. (8367196)
1993
39
Aortic stenosis and bleeding gastrointestinal angiodysplasia: is acquired von Willebrand's disease the link? (1351610)
1992
40
Type I Padua: a new variant of von Willebrand's disease. (1390253)
1992
41
Treatment of the severe bleeding episode in type III von Willebrand's disease by simultaneous administration of cryoprecipitate and platelet concentrate. (1799664)
1991
42
Recurring mutations at CpG dinucleotides in the region of the von Willebrand factor gene encoding the glycoprotein Ib binding domain, in patients with type IIB von Willebrand's disease. (1772783)
1991
43
Bleeding problems associated with von Willebrand's disease: review and case report. (1833265)
1991
44
Arthropathy in von Willebrand's disease. (2787227)
1989
45
Childhood haemostasis III: von Willebrand's disease. (3062271)
1988
46
Diphacinone toxicity, von Willebrand's Disease, and Ehrlichia canis in a dog. (3258688)
1988
47
Von Willebrand's disease: indication for combined surgical procedures. (2954236)
1987
48
Intercurrent hypothyroidism, autoimmune anemia, and a coagulation deficiency (von Willebrand's disease) in a dog. (6332103)
1984
49
Gastrointestinal bleeding, angiodysplasia of the colon and acquired von Willebrand's disease. (6968610)
1980
50
Hypofibrinogenemia-dysfibrinogenemia and von Willebrand's disease in the same family. (312982)
1979

Variations for Von Willebrand's Disease

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Expression for genes affiliated with Von Willebrand's Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Von Willebrand's Disease

Search GEO for disease gene expression data for Von Willebrand's Disease.

Pathways for genes affiliated with Von Willebrand's Disease

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 54R&D Systems
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Compounds for genes affiliated with Von Willebrand's Disease

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45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Von Willebrand's Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1recombinate4510.0F8, VWF
2kogenate459.9VWF, F8
3tributylphosphate459.9F8, VWF
4rfviii459.8F8, VWF
5tetramethylpyrazine459.5VWF, SELP
6sodium chlorate459.5VWF, SELP
7rituximab45 51 1111.4VWF, ADAMTS13, F8
8latex459.4VWF, GP1BA, F8
9parnaparin459.4SELP, F3
10tinzaparin45 1110.3VWF, F3
11roxifiban459.3SELP, F3
12thromboxane a245 2410.3F8, SELP, VWF
13nadroparin45 1110.2F3, SELP
14tranexamic acid45 1110.2F8, F3, VWF
15echistatin459.2VWF, SELP
16kaolin459.1F3, F8
17ppack459.1F3, SELP, VWF
18tirofiban45 1110.1F3, SELP, VWF
19polysulfone459.0F3, SELP, VWF
20clopidogrel45 51 24 1112.0F3, SELP, VWF
21dipyridamole45 61 29 1112.0F3, SELP, VWF
22txb2459.0VWF, F3, SELP
23lactate458.8F8, VWF, SELP, GP1BA
24dextran sulfate458.8F3, F11, SELP
25cyclosporin a45 29 6110.8F8, VWF, SELP, ADAMTS13
26cyclophosphamide45 51 1110.7ADAMTS13, F3, F8, VWF
27abciximab45 119.7F3, GP1BA, VWF, SELP
28hydroxyethyl starch458.6F3, F8, SELP, VWF
29phospholipid458.6VWF, F3, F8, F11
30warfarin45 51 24 1111.6F8, F3, VWF, SELP
31citrate458.6VWF, SELP, F3, F8
32ticlopidine45 119.6ADAMTS13, F3, VWF, SELP
33dermatan sulfate458.5VWF, F11, F3, SELP
34endotoxin458.5F11, F8, F3, ADAMTS13
35aspartate458.3VWF, SELP, F3, F8
36prostacyclin458.2F3, SELP, GP1BA, VWF, F8
37phosphatidylserine45 29 1110.2SELP, F3, F8, GP1BA, VWF
38aspirin45 51 29 2411.2F8, VWF, GP1BA, SELP, F3
39epinephrine45 24 1110.2F8, F3, VWF, SELP, GP1BA
40kininogen458.2F11, F3, SELP, VWF, GP1BA
41aprotinin45 119.2GP1BA, F11, VWF, SELP, F3
42adp45 29 2410.1F3, VWF, GP1BA, F8, SELP
43homocysteine45 249.1VWF, F3, SELP, F8, F11
44creatinine458.1F8, ADAMTS13, VWF, F3, SELP
45serine457.7F11, GP1BA, VWF, F8, F3, ADAMTS13
46hirudin457.7F11, F8, F3, SELP, GP1BA, VWF
47ristocetin457.2GP1BA, F11, SELP, ADAMTS13, F3, F8
48desmopressin45 61 29 1110.2GP1BA, ADAMTS13, SELP, F11, F3, F8
49fibrinogen457.2GP1BA, VWF, F3, F8, ADAMTS13, SELP
50heparin45 29 24 1110.2F3, ADAMTS13, SELP, F11, GP1BA, VWF

GO Terms for genes affiliated with Von Willebrand's Disease

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16Gene Ontology
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Cellular components related to Von Willebrand's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.3VWF, F8
2plasma membraneGO:0058867.6F8, F3, SELP, F11, GP1BA
3extracellular spaceGO:0056157.4F8, F3, ADAMTS13, SELP, F11

Biological processes related to Von Willebrand's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:0075978.8F8, F11, GP1BA, VWF
2platelet degranulationGO:0025768.7F8, SELP, VWF
3cell adhesionGO:0071558.6F8, SELP, GP1BA, VWF
4platelet activationGO:0301688.0VWF, GP1BA, SELP, ADAMTS13, F8
5blood coagulationGO:0075967.3VWF, GP1BA, F11, SELP, F3, F8

Molecular functions related to Von Willebrand's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:0051789.6ADAMTS13, VWF
2glycoprotein bindingGO:0019489.4SELP, VWF
3protease bindingGO:0020209.0F3, VWF
4protein bindingGO:0055156.7F8, VWF, GP1BA, F11, SELP, ADAMTS13

Products for genes affiliated with Von Willebrand's Disease

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Sources for Von Willebrand's Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet