MCID: VNW001
MIFTS: 67

Von Willebrand's Disease malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Cardiovascular diseases categories

Summaries for Von Willebrand's Disease

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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 based summary: Von Willebrand's Disease, also known as von willebrand disease, is related to von willebrand disease, platelet-type and angiodysplasia, and has symptoms including abnormality of thrombocytes, abnormality of coagulation and abnormality of the mitral valve. 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 factor viii and antihemophilic factor, porcine and the compounds recombinate and tributylphosphate 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:9 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:41 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:63 Von Willebrand disease (vWD) (/?f?n?v?l?br??nt/) is the most common hereditary coagulation abnormality... more...

GeneReviews summary for von-willebrand

Aliases & Classifications for Von Willebrand's Disease

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Sources:
9Disease Ontology, 21Genetics Home Reference, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 3CDC, 60UMLS, 11DISEASES, 22GTR, 38NCIt, 33MeSH, 55SNOMED-CT, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Von Willebrand's Disease, Aliases & Descriptions:

Name: Von Willebrand's Disease 9
Von Willebrand Disease 9 19 41 20 21 43 47 3 60
Vascular Pseudohemophilia 9 21
Von Willebrands Disease 11 22
Von Willebrand Disorder 9 21
Vwd 41 3
Von Willebrand's Factor Deficiency 21
 
Von Willebrand's-Jurgens' Disease 9
Hereditary Von Willebrand Disease 47
Von Willebrand Factor, Deficiency 41
Von Willebrand Factor Deficiency 19
Von Willebrand-Jrgens Disease 9
Vascular Hemophilia 9
Angiohemophilia 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
von willebrand disease:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:12531
NCIt38 C68677
MeSH33 D014842
ICD9CM27 286.4
Orphanet47 903
MESH via Orphanet34 D014842
ICD10 via Orphanet26 D68.0
UMLS via Orphanet61 C0042974
ICD1025 D68.0

Related Diseases for Von Willebrand's Disease

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Diseases related to Von Willebrand's Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1von willebrand disease, platelet-type31.6VWF, GP1BA
2angiodysplasia31.6VWF
3glanzmann thrombasthenia31.3VWF
4factor xii deficiency30.6F3, VWF
5factor viii deficiency30.6F8, F3
6hemophilia b30.5F8, F3, F11
7essential thrombocythemia30.4SELP, VWF
8blood platelet disease30.4F8, GP1BA, VWF
9bernard-soulier syndrome, type c30.4F8, GP1BA, VWF
10factor vii deficiency30.3F3, F8
11hypothyroidism30.3VWF, F8
12hemarthrosis30.1VWF, F3, F8
13atherosclerosis30.0F3, SELP, VWF
14thrombocytopenia29.8VWF, GP1BA, SELP, ADAMTS13, F3, F8
15afibrinogenemia29.8VWF, F11, F3, F8
16thrombocytosis29.8F3, SELP, GP1BA, VWF
17systemic lupus erythematosus29.7VWF, ADAMTS13, F3, F8
18hemorrhagic disease29.6VWF, F11, F3, F8
19acute myocardial infarction29.4VWF, SELP, ADAMTS13, F3
20hemophilia a29.3VWF, F11, SELP, F3, F8
21myocardial infarction28.8F8, F3, ADAMTS13, SELP, F11, GP1BA
22type 2b von willebrand disease11.0
23type 2n von willebrand disease10.9
24type 2a von willebrand disease10.9
25von willebrand disease, type 110.8
26type 2m von willebrand disease10.8
27von willebrand disease, types 2a, 2b, 2m, and 2n10.7
28von willibrand disease, type 310.6
29mild hemophilia a10.5
30purpura10.4ADAMTS13
31thrombophlebitis10.4F8
32acquired von willebrand syndrome10.4
33thrombasthenia10.4
34endotheliitis10.4
35thrombotic thrombocytopenic purpura10.4ADAMTS13
36severe hemophilia a10.3
37hemolytic-uremic syndrome10.2VWF, ADAMTS13
38hellp syndrome10.2VWF, ADAMTS13
39hemophilia10.2
40raynaud disease10.2ADAMTS13, VWF
41intermittent claudication10.2VWF, SELP
42peripheral vascular disease10.2VWF, SELP
43hepatocellular carcinoma10.2
44norrie disease10.2
45lipoma10.2
46wilms tumor10.2
47aortic atherosclerosis10.2
48common variable immunodeficiency10.2
49craniosynostosis10.2
50hemangioma10.2

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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Symptoms:

 47
  • platelets function anomaly
  • clotting/hemostasis disorders
  • autosomal dominant inheritance
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • varices/varicous veins/venous insufficiency

HPO human phenotypes related to Von Willebrand's Disease:

id Description Frequency HPO Source Accession
1 abnormality of thrombocytes hallmark (90%) HP:0001872
2 abnormality of coagulation hallmark (90%) HP:0001928
3 abnormality of the mitral valve typical (50%) HP:0001633
4 deviation of finger occasional (7.5%) HP:0004097
5 venous insufficiency occasional (7.5%) HP:0005293

Drugs & Therapeutics for Von Willebrand's Disease

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Genetic Tests for Von Willebrand's Disease

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

31
Testes, Endothelial, Liver, Bone marrow, Bone, Colon, Whole blood, Heart, Lung, Thyroid, Salivary gland, Prostate, Tongue

Animal Models for Von Willebrand's Disease or affiliated genes

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MGI Mouse Phenotypes related to Von Willebrand's Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.2F8, F3, ADAMTS13, SELP, F11, VWF
2MP:00053876.9VWF, F11, SELP, ADAMTS13, F3, F8
3MP:00053976.7F8, VWF, GP1BA, F11, SELP, ADAMTS13
4MP:00053766.6VWF, GP1BA, F11, SELP, ADAMTS13, F3

Publications for Von Willebrand's Disease

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Articles related to Von Willebrand's Disease:

(show top 50)    (show all 523)
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
Pathogenesis, clinical picture and treatment of von Willebrand's disease. (8652143)
1995
35
Survey of Irish wolfhounds in Australia for von Willebrand's disease. (8599574)
1995
36
Mathematical Analysis of Bleeding Time Data in Patients with Platelet Disorders and von Willebrand's Disease. (21043621)
1995
37
von Willebrand's factor and von Willebrand's disease. (9371306)
1994
38
Glanzmann's thrombasthenia with mild von Willebrand's disease. (8282841)
1993
39
von Willebrand's disease: laboratory investigation using an improved functional assay for von Willebrand factor. (8367196)
1993
40
Aortic stenosis and bleeding gastrointestinal angiodysplasia: is acquired von Willebrand's disease the link? (1351610)
1992
41
Type I Padua: a new variant of von Willebrand's disease. (1390253)
1992
42
Treatment of the severe bleeding episode in type III von Willebrand's disease by simultaneous administration of cryoprecipitate and platelet concentrate. (1799664)
1991
43
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
44
Bleeding problems associated with von Willebrand's disease: review and case report. (1833265)
1991
45
Arthropathy in von Willebrand's disease. (2787227)
1989
46
Childhood haemostasis III: von Willebrand's disease. (3062271)
1988
47
Diphacinone toxicity, von Willebrand's Disease, and Ehrlichia canis in a dog. (3258688)
1988
48
Von Willebrand's disease: indication for combined surgical procedures. (2954236)
1987
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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Clinvar genetic disease variations for Von Willebrand's Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1VWFNM_000552.3(VWF): c.2561G> A (p.Arg854Gln)single nucleotide variantPathogenicrs41276738GRCh37Chr 12, 6143978: 6143978
2VWFNM_000552.3(VWF): c.4975C> T (p.Arg1659Ter)single nucleotide variantPathogenicrs61750595GRCh37Chr 12, 6127609: 6127609
3VWFNM_000552.3(VWF): c.5557C> T (p.Arg1853Ter)single nucleotide variantPathogenicrs61750612GRCh37Chr 12, 6122710: 6122710
4VWFNM_000552.3(VWF): c.3614G> A (p.Arg1205His)single nucleotide variantPathogenicrs121964895GRCh37Chr 12, 6131126: 6131126
5VWFNM_000552.3(VWF): c.3445T> C (p.Cys1149Arg)single nucleotide variantPathogenicrs61748511GRCh37Chr 12, 6131999: 6131999
6VWFVWF, 8.6-KB DEL, EX4-5deletionPathogenic
7VWFNM_000552.3(VWF): c.3437A> G (p.Tyr1146Cys)single nucleotide variantPathogenicrs267607326GRCh37Chr 12, 6132007: 6132007
8VWFVWF, TRP1745CYSundetermined variantPathogenic
9VWFNM_000552.3(VWF): c.2279G> A (p.Arg760His)single nucleotide variantPathogenicrs61748467GRCh37Chr 12, 6155891: 6155891
10VWFNM_000552.3(VWF): c.5347T> G (p.Ser1783Ala)single nucleotide variantPathogenicrs267607353GRCh37Chr 12, 6125363: 6125363

Expression for genes affiliated with Von Willebrand's Disease

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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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Compounds for genes affiliated with Von Willebrand's Disease

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Compounds related to Von Willebrand's Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1recombinate4310.0VWF, F8
2tributylphosphate439.9VWF, F8
3kogenate439.9VWF, F8
4rfviii439.8VWF, F8
5tetramethylpyrazine439.5VWF, SELP
6echistatin439.5SELP, VWF
7rituximab43 49 1211.4VWF, ADAMTS13, F8
8parnaparin439.4SELP, F3
9latex439.4F8, GP1BA, VWF
10tinzaparin43 1210.3VWF, F3
11roxifiban439.3SELP, F3
12thromboxane a243 2410.3VWF, SELP, F8
13nadroparin43 1210.2SELP, F3
14tranexamic acid43 1210.2F8, F3, VWF
15sodium chlorate439.2SELP, VWF
16kaolin439.1F3, F8
17ppack439.1F3, SELP, VWF
18tirofiban43 1210.1VWF, SELP, F3
19polysulfone439.0VWF, SELP, F3
20clopidogrel43 49 24 1212.0F3, SELP, VWF
21txb2439.0VWF, SELP, F3
22dipyridamole43 59 28 1212.0VWF, SELP, F3
23lactate438.8VWF, GP1BA, SELP, F8
24dextran sulfate438.8F3, SELP, F11
25cyclosporin a43 28 5910.8F8, ADAMTS13, SELP, VWF
26cyclophosphamide43 49 1210.7VWF, ADAMTS13, F3, F8
27abciximab43 129.7VWF, GP1BA, SELP, F3
28hydroxyethyl starch438.6F8, F3, SELP, VWF
29phospholipid438.6VWF, F11, F3, F8
30warfarin43 49 24 1211.6VWF, SELP, F3, F8
31citrate438.6VWF, SELP, F3, F8
32ticlopidine43 129.6F3, ADAMTS13, SELP, VWF
33dermatan sulfate438.5F3, SELP, F11, VWF
34endotoxin438.5F8, F3, ADAMTS13, F11
35aspartate438.3VWF, SELP, F3, F8
36prostacyclin438.2VWF, GP1BA, SELP, F3, F8
37phosphatidylserine43 28 1210.2F8, F3, SELP, GP1BA, VWF
38aspirin43 49 28 2411.2VWF, GP1BA, SELP, F3, F8
39epinephrine43 24 1210.2VWF, GP1BA, SELP, F3, F8
40kininogen438.2VWF, GP1BA, F11, SELP, F3
41aprotinin43 129.2VWF, GP1BA, F11, SELP, F3
42adp43 28 2410.1VWF, GP1BA, SELP, F3, F8
43homocysteine43 249.1VWF, F11, SELP, F3, F8
44creatinine438.1F8, F3, ADAMTS13, SELP, VWF
45serine437.7VWF, GP1BA, F11, ADAMTS13, F3, F8
46hirudin437.7F8, F3, SELP, F11, GP1BA, VWF
47ristocetin437.2F8, F3, ADAMTS13, SELP, F11, GP1BA
48desmopressin43 59 28 1210.2GP1BA, VWF, F11, SELP, ADAMTS13, F8
49fibrinogen437.2VWF, GP1BA, F11, SELP, ADAMTS13, F3
50heparin43 28 24 1210.2VWF, GP1BA, F11, SELP, ADAMTS13, F3

GO Terms for genes affiliated with Von Willebrand's Disease

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Cellular components related to Von Willebrand's Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.3VWF, F8
2plasma membraneGO:00058867.6F8, F3, SELP, F11, GP1BA
3extracellular spaceGO:00056157.4F8, F3, ADAMTS13, SELP, F11

Biological processes related to Von Willebrand's Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:00075978.8F8, F11, GP1BA, VWF
2platelet degranulationGO:00025768.7F8, SELP, VWF
3cell adhesionGO:00071558.6F8, SELP, GP1BA, VWF
4platelet activationGO:00301688.0VWF, GP1BA, SELP, ADAMTS13, F8
5blood coagulationGO:00075967.3VWF, GP1BA, F11, SELP, F3, F8

Molecular functions related to Von Willebrand's Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:00051789.6ADAMTS13, VWF
2glycoprotein bindingGO:00019489.4SELP, VWF
3protease bindingGO:00020209.0F3, VWF
4protein bindingGO:00055156.7F8, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet