MCID: TYP018
MIFTS: 30

Type 3 Von Willebrand Disease malady

Genetic diseases (common) category
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Summaries for Type 3 Von Willebrand Disease

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33MalaCards
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MalaCards: Type 3 Von Willebrand Disease, also known as von willebrand disease, type 3, is related to von willibrand disease, type 3 and central retinal vein occlusion. An important gene associated with Type 3 Von Willebrand Disease is VWF (von Willebrand factor), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Hemostasis. The compounds integrilin and beraprost sodium have been mentioned in the context of this disorder. Related mouse phenotype hematopoietic system.

Aliases & Classifications for Type 3 Von Willebrand Disease

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20GeneTests, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

type 3 von willebrand disease 20
von willebrand disease, type 3 62


Related Diseases for Type 3 Von Willebrand Disease

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17GeneCards, 18GeneDecks
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Diseases related to Type 3 Von Willebrand Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1von willibrand disease, type 310.6
2central retinal vein occlusion10.1PLAT
3factor xii deficiency10.1VWF
4factor xi deficiency10.1F8
5thrombophlebitis10.1F8
6peripheral vascular disease10.0VWF, PLAT
7coronary thrombosis10.0VWF, PLAT
8stroke, ischemic10.0PLAT, VWF
9acute myocardial infarction10.0VWF, PLAT
10essential hypertension10.0PLAT, VWF
11hemarthrosis10.0VWF, F8
12intracranial thrombosis10.0F8, VWF
13disseminated intravascular coagulation10.0F8, PLAT
14hemorrhagic disease10.0F8, VWF
15blood platelet disease10.0VWF, F8
16von willebrand's disease10.0VWF, F8
17factor viii deficiency10.0F8, VWF
18afibrinogenemia10.0F8, VWF
19thrombotic thrombocytopenic purpura, acquired10.0VWF, F8
20bernard-soulier syndrome10.0F8, VWF
21glanzmann's thrombasthenia10.0F8, VWF
22vascular disease10.0VWF, PLAT
23prion disease10.0F8, VWF
24hypersensitivity reaction type ii disease10.0VWF, F8
25hypothyroidism10.0F8, VWF
26congenital heart disease10.0VWF, F8
27thrombocytopenia10.0VWF, F8
28coronary artery disease10.0VWF, PLAT
29primary hyperoxaluria10.0F8, VWF
30antiphospholipid syndrome10.0PLAT, VWF, F8
31thrombophilia10.0VWF, PLAT, F8
32thromboembolism9.9PLAT, F8, VWF
33hyperhomocysteinemia9.9F8, VWF, PLAT
34venous thrombosis9.9PLAT, F8, VWF
35factor v leiden thrombophilia9.9VWF, F8, PLAT
36pre-eclampsia9.9PLAT, F8, VWF
37type 2 diabetes mellitus9.9PLAT, F8, VWF
38cerebrovascular disease9.9VWF, F8, PLAT
39myocardial infarction9.9VWF, PLAT, F8
40insulin resistance9.9PLAT, VWF, F8
41diabetes mellitus9.9VWF, PLAT, F8
42systemic lupus erythematosus9.9VWF, F8

Graphical network of the top 20 diseases related to Type 3 Von Willebrand Disease:



Diseases related to type 3 von willebrand disease

Symptoms for Type 3 Von Willebrand Disease

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Drugs & Therapeutics for Type 3 Von Willebrand Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Type 3 Von Willebrand Disease

Search NIH Clinical Center for Type 3 Von Willebrand Disease

Genetic Tests for Type 3 Von Willebrand Disease

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20GeneTests
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Genetic tests related to Type 3 Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 3 Von Willebrand Disease20

Anatomical Context for Type 3 Von Willebrand Disease

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Animal Models for Type 3 Von Willebrand Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Type 3 Von Willebrand Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.5PLAT, F8, VWF

Publications for Type 3 Von Willebrand Disease

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52PubMed
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Articles related to Type 3 Von Willebrand Disease:

idTitleAuthorsYear
1
The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles. (23311757)
2013
2
Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients. (22674667)
2012
3
Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population. (21362127)
2011
4
Undetected factor VIII in a patient with type 3 von Willebrands disease mistaken as severe haemophilia A. (19563498)
2009
5
An Alu-mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary. (18665926)
2008
6
Long-term prophylaxis with intermediate-purity factor VIII concentrate (Haemate P) in a patient with type 3 von Willebrand disease and recurrent gastrointestinal bleeding. (16409182)
2006
7
Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study. (16999850)
2006
8
Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. (12737944)
2003
9
Local and systemic effects of intra-arterial desmopressin in healthy volunteers and patients with type 3 von Willebrand disease. Role of interleukin-6. (10959689)
2000

Variations for Type 3 Von Willebrand Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Type 3 Von Willebrand Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1VWFNM_000552.3(VWF): c.4975C> T (p.Arg1659Ter)single nucleotide variantPathogenicrs61750595GRCh37Chr 12, 6127609: 6127609
2VWFNM_000552.3(VWF): c.5557C> T (p.Arg1853Ter)single nucleotide variantPathogenicrs61750612GRCh37Chr 12, 6122710: 6122710

Expression for genes affiliated with Type 3 Von Willebrand Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Type 3 Von Willebrand Disease

Search GEO for disease gene expression data for Type 3 Von Willebrand Disease.

Pathways for genes affiliated with Type 3 Von Willebrand Disease

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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN, 54R&D Systems
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Pathways related to Type 3 Von Willebrand Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0F8, VWF
2
Show member pathways
8.5VWF, F8, PLAT
3
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
8.5VWF, F8, PLAT
4
Show member pathways
8.5PLAT, F8, VWF

Compounds for genes affiliated with Type 3 Von Willebrand Disease

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45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 61Tocris Bioscience, 3BitterDB
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Compounds related to Type 3 Von Willebrand Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 66)
idCompoundScoreTop Affiliating Genes
1integrilin459.8VWF, PLAT
2beraprost sodium459.7PLAT, VWF
3quinapril45 51 1111.7PLAT, VWF
4ppack459.7VWF, PLAT
5tirofiban45 1110.7VWF, PLAT
6perindopril45 51 1111.7PLAT, VWF
7ticlopidine45 1110.7VWF, PLAT
8abciximab45 1110.7VWF, PLAT
9ethidium bromide459.7VWF, PLAT
10clopidogrel45 51 24 1112.7VWF, PLAT
11dermatan sulfate459.7VWF, PLAT
12thromboxane45 2410.7PLAT, VWF
13kininogen459.6VWF, PLAT
14fluvastatin45 51 29 1112.6VWF, PLAT
15losartan45 51 29 1112.6VWF, PLAT
16pge1459.6PLAT, VWF
17aprotinin45 1110.5VWF, PLAT
18recombinate459.5F8, VWF
19tributylphosphate459.5F8, VWF
20kogenate459.5F8, VWF
21rfviii459.5VWF, F8
22sodium nitroprusside459.4PLAT, VWF
23hydroxyethyl starch459.4VWF, F8
24propranolol45 29 51 24 1113.4PLAT, F8
25ivig459.4VWF, F8
26atorvastatin45 51 29 24 1113.3VWF, PLAT
27simvastatin45 51 61 29 24 1114.3PLAT, VWF
28rituximab45 51 1111.3VWF, F8
29acetaminophen45 3 51 24 1113.3VWF, F8
30latex459.2VWF, F8
31prednisolone45 29 1111.1F8, VWF
32tranexamic acid45 1110.0F8, VWF, PLAT
33ristocetin459.0PLAT, VWF, F8
34desmopressin45 61 29 1112.0PLAT, VWF, F8
35hirudin459.0F8, VWF, PLAT
36warfarin45 51 24 1112.0VWF, F8, PLAT
37thromboxane a245 249.9F8, VWF, PLAT
38homocysteine45 249.9PLAT, F8, VWF
39citrate458.9VWF, F8
40prostacyclin458.9PLAT, F8, VWF
41aspirin45 51 29 2411.9VWF, F8, PLAT
42fibrinogen458.9VWF, F8, PLAT
43cyclosporin a45 29 6110.9VWF, F8, PLAT
44creatinine458.9VWF, F8, PLAT
45aspartate458.9PLAT, F8, VWF
46heparin45 29 24 1111.9F8, VWF, PLAT
47cholesterol45 29 24 1111.9PLAT, F8, VWF
48adp45 29 2410.8PLAT, VWF, F8
49agarose458.7VWF, F8
50cysteine458.7VWF, F8, PLAT

GO Terms for genes affiliated with Type 3 Von Willebrand Disease

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16Gene Ontology
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Cellular components related to Type 3 Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.3PLAT, VWF
2platelet alpha granule lumenGO:0310938.9F8, VWF
3extracellular regionGO:0055768.2PLAT, F8, VWF

Biological processes related to Type 3 Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:0075979.0F8, VWF
2platelet activationGO:0301689.0F8, VWF
3platelet degranulationGO:0025768.7F8, VWF
4blood coagulationGO:0075968.4PLAT, F8, VWF

Molecular functions related to Type 3 Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.1PLAT, F8

Products for genes affiliated with Type 3 Von Willebrand Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type 3 Von Willebrand 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