MCID: TYP013
MIFTS: 32

Type 1 Von Willebrand Disease malady

Blood category

Summaries for Type 1 Von Willebrand Disease

Sources:
47OMIM, 33MalaCards
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MalaCards: Type 1 Von Willebrand Disease, also known as von willebrand disease, type 1, is related to hemophilia b and hemophilia. 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:47 193400

Aliases & Classifications for Type 1 Von Willebrand Disease

Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47 61
von willebrand disease type 1 49
willebrand disease type 1 49


External Ids:

OMIM47 193400
MESH via Orphanet36 D056725
ICD10 via Orphanet26 D68.0
SNOMED-CT via Orphanet58 128106003
UMLS via Orphanet62 C1264039

Related Diseases for Type 1 Von Willebrand Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilia b30.4F8
2hemophilia10.4
3angiodysplasia10.3
4autosomal dominant disease10.3
5autosomal recessive disease10.3
6vein disease10.3
7devic disease10.3
8mthfr gene mutation10.3
9von willebrand disease, types 2a, 2b, 2m, and 2n10.3
10severe hemophilia b10.3
11sickle cell disease10.0VWF
12purpura10.0ADAMTS13
13thrombocytosis10.0VWF
14thrombotic thrombocytopenic purpura, acquired10.0ADAMTS13
15factor xii deficiency10.0VWF
16coronary thrombosis10.0VWF
17connective tissue disease10.0VWF
18central retinal vein occlusion10.0MTHFR
19retinal vein occlusion10.0MTHFR
20cerebrovascular disease10.0MTHFR
21factor xi deficiency10.0F8
22thrombophlebitis10.0F8
23hypercholesterolemia10.0F8
24migraine10.0MTHFR
25hemolytic-uremic syndrome10.0ADAMTS13, VWF
26acute myocardial infarction10.0ADAMTS13, VWF
27protein c deficiency10.0MTHFR
28liver cirrhosis10.0ADAMTS13
29homocystinuria10.0MTHFR
30diarrhea10.0STX2
31hemarthrosis10.0F8, VWF
32peripheral vascular disease10.0MTHFR, VWF
33disseminated intravascular coagulation10.0F8, ADAMTS13
34hemorrhagic disease10.0F8, VWF
35hypersensitivity reaction type ii disease10.0VWF, F8
36blood platelet disease10.0F8, VWF
37hypertension10.0MTHFR
38afibrinogenemia10.0F8, VWF
39factor viii deficiency10.0F8, VWF
40bernard-soulier syndrome10.0F8, VWF
41glanzmann's thrombasthenia10.0VWF, F8
42pregnancy loss10.0MTHFR, F8
43portal vein thrombosis10.0MTHFR, F8
44eclampsia10.0MTHFR
45hellp syndrome10.0ADAMTS13, VWF, MTHFR
46von willebrand's disease10.0F8, VWF, ADAMTS13
47thrombocytopenia10.0F8, VWF, ADAMTS13
48hemolytic anemia10.0ADAMTS13, VWF
49intracranial thrombosis10.0VWF, MTHFR, F8
50thromboembolism10.0VWF, MTHFR, F8

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

193400

Clinical synopsis from OMIM:

193400

Drugs & Therapeutics for Type 1 Von Willebrand Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Type 1 Von Willebrand Disease

Drug clinical trials:

Search ClinicalTrials for Type 1 Von Willebrand Disease

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

Sources:
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

Animal Models for Type 1 Von Willebrand Disease or affiliated genes

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

MGI Mouse Phenotypes related to Type 1 Von Willebrand Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.2ADAMTS13, P2RY12, VWF, STX2, F8

Publications for Type 1 Von Willebrand Disease

Genetic Variations for Type 1 Von Willebrand Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Type 1 Von Willebrand Disease:

63
id Symbol AA change Variation SNP ID
1VWFp.Arg273TrpVAR_010242rs61753997
2VWFp.Cys1149ArgVAR_064925

Expression for genes affiliated with Type 1 Von Willebrand Disease

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

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

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

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

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

(show all 35)
idCompoundScoreTop Affiliating Genes
1warfarin45 50 11 2413.5VWF
2recombinate4510.0VWF, F8
3tributylphosphate4510.0F8, VWF
4kogenate459.9F8, VWF
5ppack459.9P2RY12, VWF
6rfviii459.9VWF, F8
7tirofiban45 1110.9P2RY12, VWF
8abciximab45 1110.9VWF, P2RY12
9hydroxyethyl starch459.9VWF, F8
10tranexamic acid45 1110.9F8, VWF
11clopidogrel50 45 11 2412.8P2RY12, VWF
12hirudin459.7VWF, F8
13thromboxane45 2410.7P2RY12, VWF
14ivig459.7F8, VWF
15ticlopidine45 1110.6ADAMTS13, P2RY12, VWF
16b vitamins459.6VWF, MTHFR
17ristocetin459.6F8, VWF, ADAMTS13
18desmopressin45 60 29 1112.6ADAMTS13, VWF, F8
19rituximab45 50 1111.5ADAMTS13, VWF, F8
20thromboxane a245 2410.5F8, VWF, P2RY12
21epinephrine45 11 2411.4P2RY12, VWF, F8
22p00001459.3F8, MTHFR
23metformin45 50 1111.3VWF, MTHFR
24vitamin b12459.2MTHFR, VWF
25homocysteine45 2410.1F8, MTHFR, VWF
26betacarotene459.0VWF, MTHFR
27methionine459.0VWF, MTHFR, F8
28aspartate458.8VWF, MTHFR, F8
29cyclophosphamide45 50 1110.7ADAMTS13, VWF, MTHFR, F8
30cyclosporin a45 29 6010.7F8, MTHFR, VWF, ADAMTS13
31aspirin45 50 29 2411.7F8, MTHFR, VWF, P2RY12
32fibrinogen458.3ADAMTS13, P2RY12, VWF, MTHFR, F8
33creatinine458.3F8, MTHFR, VWF, P2RY12, ADAMTS13
34heparin45 29 11 2411.3F8, MTHFR, VWF, P2RY12, ADAMTS13
35calcium45 50 11 2410.9F8, STXBP5, STX2, VWF, P2RY12, ADAMTS13

GO Terms for genes affiliated with Type 1 Von Willebrand Disease

Sources:
16Gene Ontology
See all sources

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:0075999.6P2RY12, VWF
2platelet degranulationGO:0025769.6VWF, F8
3blood coagulation, intrinsic pathwayGO:0075979.5F8, VWF
4blood coagulationGO:0075968.8P2RY12, VWF, F8
5platelet activationGO:0301688.8ADAMTS13, P2RY12, VWF, F8

Products for genes affiliated with Type 1 Von Willebrand Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type 1 Von Willebrand 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