MCID: TYP013
MIFTS: 40

Type 1 Von Willebrand Disease malady

Blood diseases category

Summaries for Type 1 Von Willebrand Disease

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46OMIM, 32MalaCards
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MalaCards: Type 1 Von Willebrand Disease, also known as von willebrand disease, type 1, is related to hemophilia and angiodysplasia. An important gene associated with Type 1 Von Willebrand Disease is VWF (von Willebrand factor), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Complement and coagulation cascades. The compounds warfarin and recombinate have been mentioned in the context of this disorder. Related mouse phenotype hematopoietic system.

Description from OMIM:46 193400

Aliases & Classifications for Type 1 Von Willebrand Disease

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
von willebrand disease type 1:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

type 1 von willebrand disease 20 22
von willebrand disease, type 1 46 60
von willebrand disease type 1 48
willebrand disease type 1 48


External Ids:

OMIM46 193400
MESH via Orphanet35 D056725
ICD10 via Orphanet26 D68.0
SNOMED-CT via Orphanet57 128106003
UMLS via Orphanet61 C1264039

Related Diseases for Type 1 Von Willebrand Disease

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17GeneCards, 18GeneDecks
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Diseases related to Type 1 Von Willebrand Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilia10.4
2angiodysplasia10.3
3autosomal dominant disease10.3
4autosomal recessive disease10.3
5endometriosis10.3
6vein disease10.3
7von willebrand disease, types 2a, 2b, 2m, and 2n10.3
8sickle cell disease10.0VWF
9purpura10.0ADAMTS13
10thrombocytosis10.0VWF
11thrombotic thrombocytopenic purpura, acquired10.0ADAMTS13
12factor xii deficiency10.0VWF
13coronary thrombosis10.0VWF
14connective tissue disease10.0VWF
15central retinal vein occlusion10.0MTHFR
16retinal vein occlusion10.0MTHFR
17cerebrovascular disease10.0MTHFR
18factor xi deficiency10.0F8
19thrombophlebitis10.0F8
20hemophilia b10.0F8
21hypercholesterolemia10.0F8
22migraine10.0MTHFR
23hemolytic-uremic syndrome10.0ADAMTS13, VWF
24acute myocardial infarction10.0ADAMTS13, VWF
25protein c deficiency10.0MTHFR
26liver cirrhosis10.0ADAMTS13
27homocystinuria10.0MTHFR
28diarrhea10.0STX2
29hemarthrosis10.0F8, VWF
30peripheral vascular disease10.0MTHFR, VWF
31disseminated intravascular coagulation10.0F8, ADAMTS13
32hemorrhagic disease10.0F8, VWF
33hypersensitivity reaction type ii disease10.0VWF, F8
34blood platelet disease10.0F8, VWF
35hypertension10.0MTHFR
36afibrinogenemia10.0F8, VWF
37factor viii deficiency10.0F8, VWF
38bernard-soulier syndrome10.0F8, VWF
39glanzmann's thrombasthenia10.0VWF, F8
40pregnancy loss10.0MTHFR, F8
41portal vein thrombosis10.0MTHFR, F8
42eclampsia10.0MTHFR
43hellp syndrome10.0ADAMTS13, VWF, MTHFR
44von willebrand's disease10.0F8, VWF, ADAMTS13
45thrombocytopenia10.0F8, VWF, ADAMTS13
46hemolytic anemia10.0ADAMTS13, VWF
47intracranial thrombosis10.0VWF, MTHFR, F8
48thromboembolism10.0VWF, MTHFR, F8
49venous thrombosis10.0VWF, MTHFR, F8
50thrombophilia10.0F8, MTHFR, VWF

Graphical network of the top 20 diseases related to Type 1 Von Willebrand Disease:



Diseases related to type 1 von willebrand disease

Clinical Features for Type 1 Von Willebrand Disease

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Sources:
46OMIM
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Clinical features from OMIM:

193400

Clinical synopsis from OMIM:

193400

Drugs & Therapeutics for Type 1 Von Willebrand Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Type 1 Von Willebrand Disease

Drug clinical trials:

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Search NIH Clinical Center for Type 1 Von Willebrand Disease

Search CenterWatch for Type 1 Von Willebrand Disease

Genetic Tests for Type 1 Von Willebrand Disease

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20GeneTests, 22GTR
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Genetic tests related to Type 1 Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 1 Von Willebrand Disease20
2 Von Willebrand Disease Type 122

Anatomical Context for Type 1 Von Willebrand Disease

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Animal Models for Type 1 Von Willebrand Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Type 1 Von Willebrand Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.2ADAMTS13, P2RY12, VWF, STX2, F8

Publications for Type 1 Von Willebrand Disease

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Genetic Variations for Type 1 Von Willebrand Disease

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Type 1 Von Willebrand Disease:

62
id Symbol AA change Variation ID SNP ID
1VWFp.Arg273TrpVAR_010242rs61753997
2VWFp.Cys1149ArgVAR_064925

Expression for genes affiliated with Type 1 Von Willebrand Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Type 1 Von Willebrand Disease

Search GEO for disease gene expression data for Type 1 Von Willebrand Disease.

Pathways for genes affiliated with Type 1 Von Willebrand Disease

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Sources:
49PharmGKB, 29KEGG, 37NCBI BioSystems Database, 53Reactome, 52R&D Systems
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Pathways related to Type 1 Von Willebrand Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6P2RY12, VWF
2
Hide members
9.6VWF, F8
3
Hide members
9.6VWF, F8

Compounds for genes affiliated with Type 1 Von Willebrand Disease

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Type 1 Von Willebrand Disease according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.5VWF
2recombinate4410.0VWF, F8
3tributylphosphate4410.0F8, VWF
4kogenate449.9F8, VWF
5ppack449.9P2RY12, VWF
6rfviii449.9VWF, F8
7tirofiban44 1110.9P2RY12, VWF
8abciximab44 1110.9VWF, P2RY12
9hydroxyethyl starch449.9VWF, F8
10tranexamic acid44 1110.9F8, VWF
11clopidogrel49 44 11 2412.8P2RY12, VWF
12hirudin449.7VWF, F8
13thromboxane44 2410.7P2RY12, VWF
14ivig449.7F8, VWF
15ticlopidine44 1110.6ADAMTS13, P2RY12, VWF
16b vitamins449.6VWF, MTHFR
17ristocetin449.6F8, VWF, ADAMTS13
18desmopressin44 59 28 1112.6ADAMTS13, VWF, F8
19rituximab44 49 1111.5ADAMTS13, VWF, F8
20thromboxane a244 2410.5F8, VWF, P2RY12
21epinephrine44 11 2411.4P2RY12, VWF, F8
22p00001449.3F8, MTHFR
23metformin44 49 1111.3VWF, MTHFR
24vitamin b12449.2MTHFR, VWF
25homocysteine44 2410.1F8, MTHFR, VWF
26betacarotene449.0VWF, MTHFR
27methionine449.0VWF, MTHFR, F8
28aspartate448.8VWF, MTHFR, F8
29cyclophosphamide44 49 1110.7ADAMTS13, VWF, MTHFR, F8
30cyclosporin a44 28 5910.7F8, MTHFR, VWF, ADAMTS13
31aspirin44 49 28 2411.7F8, MTHFR, VWF, P2RY12
32fibrinogen448.3ADAMTS13, P2RY12, VWF, MTHFR, F8
33creatinine448.3F8, MTHFR, VWF, P2RY12, ADAMTS13
34heparin44 28 11 2411.3F8, MTHFR, VWF, P2RY12, ADAMTS13
35calcium44 49 11 2410.9F8, STXBP5, STX2, VWF, P2RY12, ADAMTS13

GO Terms for genes affiliated with Type 1 Von Willebrand Disease

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16Gene Ontology
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Cellular components related to Type 1 Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.6VWF, F8

Biological processes related to Type 1 Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemostasisGO:0075999.6VWF, P2RY12
2platelet degranulationGO:0025769.6F8, VWF
3blood coagulation, intrinsic pathwayGO:0075979.5F8, VWF
4blood coagulationGO:0075968.8F8, VWF, P2RY12
5platelet activationGO:0301688.8F8, VWF, P2RY12, ADAMTS13

Products for genes affiliated with Type 1 Von Willebrand Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type 1 Von Willebrand Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet