MCID: TYP018
MIFTS: 30

Type 3 Von Willebrand Disease malady

Genetic diseases (common) category

Summaries for Type 3 Von Willebrand Disease

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34MalaCards
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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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21GeneTests, 63UMLS
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Classifications:

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


Aliases & Descriptions:

type 3 von willebrand disease 21
von willebrand disease, type 3 63


Related Diseases for Type 3 Von Willebrand Disease

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Type 3 Von Willebrand Disease

Search CenterWatch for Type 3 Von Willebrand Disease

Genetic Tests for Type 3 Von Willebrand Disease

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21GeneTests
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Genetic tests related to Type 3 Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 3 Von Willebrand Disease21

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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38MGI
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MGI Mouse Phenotypes related to Type 3 Von Willebrand Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.5PLAT, F8, VWF

Publications for Type 3 Von Willebrand Disease

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53PubMed
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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, 16Gene 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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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN, 55R&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 Pathway39
Complement and Coagulation Cascades39
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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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB, 30IUPHAR, 62Tocris 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
1integrilin469.8VWF, PLAT
2beraprost sodium469.7PLAT, VWF
3quinapril46 52 1211.7PLAT, VWF
4ppack469.7VWF, PLAT
5tirofiban46 1210.7VWF, PLAT
6perindopril46 52 1211.7PLAT, VWF
7ticlopidine46 1210.7VWF, PLAT
8abciximab46 1210.7VWF, PLAT
9ethidium bromide469.7VWF, PLAT
10clopidogrel46 52 25 1212.7VWF, PLAT
11dermatan sulfate469.7VWF, PLAT
12thromboxane46 2510.7PLAT, VWF
13kininogen469.6VWF, PLAT
14fluvastatin46 52 30 1212.6VWF, PLAT
15losartan46 52 30 1212.6VWF, PLAT
16pge1469.6PLAT, VWF
17aprotinin46 1210.5VWF, PLAT
18recombinate469.5F8, VWF
19tributylphosphate469.5F8, VWF
20kogenate469.5F8, VWF
21rfviii469.5VWF, F8
22sodium nitroprusside469.4PLAT, VWF
23hydroxyethyl starch469.4VWF, F8
24propranolol46 30 52 25 1213.4PLAT, F8
25ivig469.4VWF, F8
26atorvastatin46 52 30 25 1213.3VWF, PLAT
27simvastatin46 52 62 30 25 1214.3PLAT, VWF
28rituximab46 52 1211.3VWF, F8
29acetaminophen46 3 52 25 1213.3VWF, F8
30latex469.2VWF, F8
31prednisolone46 30 1211.1F8, VWF
32tranexamic acid46 1210.0F8, VWF, PLAT
33ristocetin469.0PLAT, VWF, F8
34desmopressin46 62 30 1212.0PLAT, VWF, F8
35hirudin469.0F8, VWF, PLAT
36warfarin46 52 25 1212.0VWF, F8, PLAT
37thromboxane a246 259.9F8, VWF, PLAT
38homocysteine46 259.9PLAT, F8, VWF
39citrate468.9VWF, F8
40prostacyclin468.9PLAT, F8, VWF
41aspirin46 52 30 2511.9VWF, F8, PLAT
42fibrinogen468.9VWF, F8, PLAT
43cyclosporin a46 30 6210.9VWF, F8, PLAT
44creatinine468.9VWF, F8, PLAT
45aspartate468.9PLAT, F8, VWF
46heparin46 30 25 1211.9F8, VWF, PLAT
47cholesterol46 30 25 1211.9PLAT, F8, VWF
48adp46 30 2510.8PLAT, VWF, F8
49agarose468.7VWF, F8
50cysteine468.7VWF, F8, PLAT

GO Terms for genes affiliated with Type 3 Von Willebrand Disease

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet