VWD
MCID: VNW001
MIFTS: 55

Von Willebrand's Disease (VWD) malady

Immune, Blood, Cardiovascular categories

Summaries for Von Willebrand's Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 3CDC, 21Genetics Home Reference, 64Wikipedia, 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 GP1b-IX-V activation signalling and Platelet Adhesion to exposed collagen. The drugs desmopressin and factor viii and the compounds warfarin and phosphatidylserine have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and nervous 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

CDC:3 Von Willebrand disease (VWD) is an under-diagnosed blood disorder in which the blood does not clot properly. Although there is no cure for VWD, treatment can control symptoms and help people avoid problems.

Wikipedia:64 Von Willebrand disease (vWD) is the most common hereditary coagulation abnormality described in humans,... more...

Description from OMIM:47 613554,277480,193400

GeneReviews summary for von-willebrand

Aliases & Classifications for Von Willebrand's Disease

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 27ICD9CM, 47OMIM, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune, Blood, Cardiovascular


Aliases & Descriptions:

von willebrand's disease 8
von willebrand disease 19 43 20 22 21 45 61
vascular pseudohemophilia 8 21
von willebrand disorder 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


External Ids:

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

Related Diseases for Von Willebrand's Disease

Sources:
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 204)
idRelated DiseaseScoreTop Affiliating Genes
1pseudo-von willebrand disease31.1VWF, GP1BA
2angiodysplasia30.9VWF
3thrombocytopenia30.9ADAMTS13, SELP, F2, GP1BA, VWF, F3
4blood platelet disease30.6GP1BA, VWF, ITGA2B, F8
5factor v deficiency30.6F2, F3, F5, F8
6factor viii deficiency30.6F3, F7, F5, F8, F9
7glanzmann's thrombasthenia30.4F9, F8, ITGA2B, F3, VWF, GP1BA
8factor vii deficiency30.4F2, F3, F7, F5, F8, F9
9atherosclerosis30.4ITGA2B, MTHFR, F7, F3, VWF, ADAMTS1
10hemophilia b30.2F9, F8, F11, F7, F2, F3
11varicose veins30.2F2
12factor xii deficiency30.2F5, F3
13arthropathy30.2F9, F8
14hepatitis c30.2F9, F8, F2
15hemarthrosis30.2F9, F8, F3, VWF
16protein c deficiency30.2F9, F5, MTHFR, F2
17thrombocytosis30.2SELP, F2, GP1BA, VWF, F3, IL11
18systemic lupus erythematosus30.2F8, F3, VWF, F2, ADAMTS13
19bernard-soulier syndrome30.2F2, GP1BA, VWF, ITGA2B, F8, F9
20factor x deficiency30.2F9, F5, F7, F3, F2
21afibrinogenemia30.2F11, F5, F8, F3, VWF, F2
22factor xi deficiency30.2F2, F3, F7, F11, F5, F8
23vascular disease30.0SELP, PLAT, GP1BA, P2RY12, VWF, F3
24acute myocardial infarction29.9F3, F7, ITGA2B, ADAMTS13, SELP, PLAT
25type 1 von willebrand disease10.7
26von willebrand disease, types 2a, 2b, 2m, and 2n10.7
27von willibrand disease, type 310.6
28aortic disease10.5
29autosomal dominant disease10.5
30autosomal recessive disease10.5
31type 2a von willebrand disease10.5
32type 2b von willebrand disease10.5
33type 2m von willebrand disease10.5
34type 2n von willebrand disease10.5
35aortic valve stenosis10.4
36thrombasthenia10.4
37type 3 von willebrand disease10.4
38aortic valve disease10.4
39n syndrome10.3
40vein disease10.3
41acquired von willebrand syndrome10.3
42devic disease10.3
43severe hemophilia b10.3
44hereditary hemorrhagic telangiectasia10.2
45cryoglobulinemia10.2
46infiltrating lipoma10.2
47qualitative platelet defect10.2
48noonan syndrome10.2
49common variable immunodeficiency10.2
50factor xiii deficiency10.2

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



Diseases related to von willebrand's disease

Clinical Features for Von Willebrand's Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613554,277480,193400

Drugs & Therapeutics for Von Willebrand's Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Von Willebrand's Disease

Drug clinical trials:

Search ClinicalTrials for Von Willebrand's Disease

Search NIH Clinical Center for Von Willebrand's Disease

Search CenterWatch for Von Willebrand's Disease

Inferred drug relations via UMLS61/NDF-RT41:

Show with subtypes

Genetic Tests for Von Willebrand's Disease

Sources:
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

Animal Models for Von Willebrand's Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Von Willebrand's Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.7F9, ITGA2B, F11, F7, F3, F2
2MP:00036319.6F5, MTHFR, F11, F3, VWF, F2
3MP:00053979.3F9, F8, STX2, ITGA2B, F11, F3
4MP:00053879.1F9, F8, STX2, ITGA2B, F11, F3
5MP:00107689.1F11, MTHFR, F5, STXBP5, F8, F9
6MP:00053768.8ADAMTS13, F9, F8, ITGA2B, F5, MTHFR

Publications for Von Willebrand's Disease

Genetic Variations for Von Willebrand's Disease

Expression for genes affiliated with Von Willebrand's Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 50PharmGKB, 52QIAGEN, 53R&D Systems
See all sources

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

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3GP1BA, VWF
210.3GP1BA, VWF
3
Hide members
10.3VWF, ITGA2B
410.2GP1BA, PLAT, SELP
510.2F2, F7, F9
610.2ITGA2B, IL11, GP1BA
7
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10.1F2, GP1BA, VWF, ITGA2B
810.1ITGA2B, VWF, P2RY12, F2
9
Hide members
10.1F2, F3, F7, F9
10
Hide members
10.0F5, F7, F3, F2
1110.0MTHFR, F7, F2, PLAT
12
Hide members
9.9F8, ITGA2B, F5, CD63, VWF, SELP
13
Hide members
9.8F3, VWF, P2RY12, GP1BA, F2, PLAT
14
Hide members
9.7F9, F8, ITGA2B, F5, F11, CD63
15
Hide members
9.7F9, F8, ITGA2B, F5, F11, F7
16
Hide members
9.6F2, VWF, F3, F7, F11, F5
17
Hide members
9.5PLAT, F9, F2, GP1BA, VWF, F3

Compounds for genes affiliated with Von Willebrand's Disease

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

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

(show top 50)    (show all 170)
idCompoundScoreTop Affiliating Genes
1warfarin45 50 11 2413.6F9, VWF, SELP
2phosphatidylserine45 29 1112.5F3, F8, GP1BA, F2
3aspartate4510.4F7, F8, F2, IL11
4rfviii4510.4F8, VWF, F5, F9
5coumarins4510.4F9, F3
6hydroxyethyl starch4510.4F3, F8, SELP, VWF, F2
7adp45 29 2412.4CD63, P2RY12, PLAT, ITGA2B
8kaolin4510.4F9, F3, F5, F2, F8
9spectrozyme4510.4F3, F2, F5, PLAT
10Coagulation Factor IX1110.3F8, F11, F7, F2
11bivalirudin45 1111.3F5, F3, F2, PLAT, SELP
12batroxobin4510.3F2, SELP, PLAT, F5
13fondaparinux4510.3F9, F5, F3, PLAT, F2
14argatroban45 1111.3SELP, PLAT, F2, F5, F3
15ticlopidine45 1111.3F3, VWF, P2RY12, PLAT, SELP, ADAMTS13
16ppack4510.3SELP, P2RY12, VWF, F3, F2, PLAT
17tranexamic acid45 1111.3F2, VWF, F3, PLAT, F9, F8
18gamma-carboxyglutamic acid4510.3F9, F7, F5, F2, F3
19acenocoumarol45 50 1112.2F2, F3, F5, F9
20aprotinin45 1111.2F9, F5, F11, F3, VWF, PLAT
21tirofiban45 1111.2VWF, F3, ITGA2B, P2RY12, F2, PLAT
22levonorgestrel45 60 29 1113.2F5, PLAT, F2, F3, F7
23clopidogrel50 45 11 2413.2VWF, SELP, CD63, PLAT, F2, P2RY12
24citrate4510.1VWF, F9, F8, F5, F3, SELP
25abciximab45 1111.1SELP, P2RY12, VWF, ITGA2B, PLAT, F3
26dermatan sulfate4510.1F3, VWF, F2, PLAT, SELP, F11
27thromboxane a245 2411.1F8, VWF, P2RY12, PLAT, SELP, CD63
28serine4510.1F9, ADAMTS1, F8, ITGA2B, F11, F7
29prostacyclin4510.1VWF, F8, PLAT, GP1BA, SELP, F5
30endotoxin4510.1F9, F8, F5, F11, F3, ADAMTS13
31pge14510.1F5, VWF, P2RY12, F2, PLAT, IL11
32cyclophosphamide45 50 1112.0F9, F8, F5, F3, VWF, MTHFR
33protamine4510.0F5, F3, PLAT, SELP, F2
34hirudin4510.0SELP, PLAT, F2, GP1BA, VWF, F3
35protamine sulfate459.9PLAT, F5, F2, F3
36kininogen459.9F2, PLAT, SELP, F9, F5, F11
37homocysteine45 2410.9F8, F5, MTHFR, F11, F3, VWF
38cyclosporin a45 29 6011.9MTHFR, IL11, VWF, ADAMTS13, F2, PLAT
39heparin45 29 11 2412.9SELP, F9, F8, MTHFR, F11, IL11
40ristocetin459.9ADAMTS13, SELP, PLAT, F2, GP1BA, VWF
41epinephrine45 11 2411.9F5, SELP, F8, CD63, IL11, F3
42simvastatin45 50 60 29 11 2414.9PLAT, F2, VWF, F3, F5, SELP
43desmopressin45 60 29 1112.9PLAT, F9, F8, SELP, ADAMTS13, GP1BA
44aspirin45 50 29 2412.8CD63, F5, F8, F3, VWF, P2RY12
45cholesterol45 29 11 2412.7CD63, VWF, F9, SELP, PLAT, F8
46creatinine459.7F9, P2RY12, F8, F5, ADAMTS13, SELP
47dextran sulfate459.7F5, F11, F3, SELP, F9
48cysteine459.5MTHFR, IL11, F3, VWF, PLAT, F5
49calcium45 50 11 2412.3F5, ITGA2B, CD63, F7, IL11, VWF
50fibrinogen459.2GP1BA, F2, PLAT, SELP, ADAMTS13, P2RY12

GO Terms for genes affiliated with Von Willebrand's Disease

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:03109310.3F8, F5, VWF
2platelet dense granule membraneGO:03108810.3SELP, CD63
3Golgi lumenGO:00579610.2F2, F7, F9
4cell surfaceGO:00998610.0STX2, CD63, F3, PLAT, ADAMTS13
5external side of plasma membraneGO:00989710.0ITGA2B, VWF, P2RY12, SELP
6platelet alpha granule membraneGO:03109210.0SELP, ITGA2B
7extracellular regionGO:0055769.7F9, F8, F5, F11, F7, IL11
8extracellular spaceGO:0056159.7ADAMTS13, F8, F5, F11, F7, IL11
9plasma membraneGO:0058869.4F11, F5, ITGA2B, F8, F9, CD63

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:00759810.4F9, F7, F3
2positive regulation of platelet-derived growth factor receptor signaling pathwayGO:01064110.4F3, F7
3peptidyl-glutamic acid carboxylationGO:01718710.4F9, F7, F2
4plasminogen activationGO:03163910.4F11, PLAT
5fibrinolysisGO:04273010.4PLAT, F2, GP1BA
6regulation of blood coagulationGO:03019310.4F2, GP1BA
7hemostasisGO:00759910.3VWF, P2RY12
8positive regulation of blood coagulationGO:03019410.3F2, F7
9blood coagulation, intrinsic pathwayGO:00759710.2F9, F8, F11, VWF, GP1BA, F2
10platelet degranulationGO:00257610.1F8, ITGA2B, F5, CD63, VWF, SELP
11cell adhesionGO:00715510.1F8, ITGA2B, F5, VWF, GP1BA, SELP
12integrin-mediated signaling pathwayGO:00722910.1ADAMTS13, ADAMTS1, ITGA2B
13positive regulation of positive chemotaxisGO:05092710.0F3, F7
14proteolysisGO:00650810.0ADAMTS13, ADAMTS1, PLAT, F2, F7, F11
15platelet activationGO:0301689.7ADAMTS13, SELP, F2, GP1BA, P2RY12, VWF
16blood coagulationGO:0075969.4SELP, F9, F8, PLAT, F2, GP1BA

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

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:0019489.9F7, VWF, SELP
2serine-type endopeptidase activityGO:0042529.8PLAT, F2, F7, F11, F9
3protein bindingGO:0055159.1STX2, ITGA2B, F5, F11, CD63, F3

Products for genes affiliated with Von Willebrand's Disease

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Sources for Von Willebrand's Disease

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet