MCID: TYP013
MIFTS: 50

Type 1 Von Willebrand Disease malady

Genetic diseases, Blood diseases, Rare diseases categories

Summaries for Type 1 Von Willebrand Disease

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48OMIM, 34MalaCards
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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 ppack and tirofiban have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are hematopoietic system and mortality/aging.

Description from OMIM:48 193400

Aliases & Classifications for Type 1 Von Willebrand Disease

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

50
von willebrand disease type 1:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable


Aliases & Descriptions:

type 1 von willebrand disease 21 23
von willebrand disease, type 1 48 63
von willebrand disease type 1 50


External Ids:

OMIM48 193400
MESH via Orphanet37 D056725
ICD10 via Orphanet27 D68.0
SNOMED-CT via Orphanet60 128106003
UMLS via Orphanet64 C1264039

Related Diseases for Type 1 Von Willebrand Disease

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18GeneCards, 19GeneDecks
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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 57)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilia10.4
2angiodysplasia10.3
3endometriosis10.3
4type 2n von willebrand disease10.3
5von willebrand disease, types 2a, 2b, 2m, and 2n10.3
6mild hemophilia a10.3
7severe hemophilia a10.3
8factor xii deficiency10.1VWF
9coronary thrombosis10.1VWF
10thrombotic thrombocytopenic purpura, acquired10.1ADAMTS13
11central retinal vein occlusion10.1MTHFR
12purpura10.1ADAMTS13
13factor xi deficiency10.1F8
14thrombophlebitis10.1F8
15hemolytic-uremic syndrome10.1ADAMTS13, VWF
16peripheral vascular disease10.1VWF, MTHFR
17hemarthrosis10.0VWF, F8
18hemorrhagic disease10.0VWF, F8
19blood platelet disease10.0F8, VWF
20factor viii deficiency10.0VWF, F8
21stroke, ischemic10.0VWF, MTHFR
22afibrinogenemia10.0F8, VWF
23bernard-soulier syndrome10.0VWF, F8
24hemolytic anemia10.0VWF, ADAMTS13
25glanzmann's thrombasthenia10.0F8, VWF
26portal vein thrombosis10.0F8, MTHFR
27protein s deficiency10.0F8, MTHFR
28pregnancy loss10.0F8, MTHFR
29disseminated intravascular coagulation10.0F8, ADAMTS13
30prion disease10.0VWF, F8
31diabetic nephropathy10.0VWF, MTHFR
32hellp syndrome10.0ADAMTS13, MTHFR, VWF
33vascular disease10.0VWF, MTHFR, P2RY12
34hypersensitivity reaction type ii disease10.0F8, VWF
35von willebrand's disease10.0F8, ADAMTS13, VWF
36thrombocytopenia10.0ADAMTS13, VWF, F8
37deficiency anemia10.0ADAMTS13, VWF, STX2
38chronic kidney failure10.0ADAMTS13, VWF, MTHFR
39intracranial thrombosis10.0VWF, F8, MTHFR
40thrombophilia10.0MTHFR, VWF, F8
41thromboembolism10.0VWF, MTHFR, F8
42hyperhomocysteinemia10.0F8, MTHFR, VWF
43venous thrombosis10.0VWF, MTHFR, F8
44hypothyroidism10.0VWF, F8
45congenital heart disease10.0F8, MTHFR, VWF
46acute myocardial infarction10.0ADAMTS13, VWF
47systemic lupus erythematosus10.0ADAMTS13, F8, VWF
48type 2 diabetes mellitus10.0F8, VWF, MTHFR
49atherosclerosis10.0MTHFR, P2RY12, VWF
50primary hyperoxaluria10.0VWF, MTHFR, F8

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



Diseases related to type 1 von willebrand disease

Symptoms for Type 1 Von Willebrand Disease

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48OMIM
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Symptoms by clinical synopsis from OMIM:

193400

Clinical features from OMIM:

193400

Drugs & Therapeutics for Type 1 Von Willebrand Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Type 1 Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 1 Von Willebrand Disease21
2 Von Willebrand Disease Type 123

Anatomical Context for Type 1 Von Willebrand Disease

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34MalaCards
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MalaCards organs/tissues related to Type 1 Von Willebrand Disease:

34
Testes

Animal Models for Type 1 Von Willebrand Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Type 1 Von Willebrand Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.1VWF, ADAMTS13, P2RY12, STX2, F8
2MP:00107687.7VWF, ADAMTS13, STXBP5, MTHFR, F8
3MP:00053767.6VWF, ADAMTS13, P2RY12, MTHFR, F8

Publications for Type 1 Von Willebrand Disease

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53PubMed
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Articles related to Type 1 Von Willebrand Disease:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Response to low-dose desmopressin by a subcutaneous route in children with type 1 von Willebrand disease. (23321055)
2013
2
Haemostasis prophylaxis using single dose desmopressin acetate and extended use epsilon aminocaproic acid for adenotonsillectomy in patients with type 1 von Willebrand disease. (21771208)
2012
3
Assessment of a cohort of primarily pediatric patients with a presumptive diagnosis of type 1 von Willebrand disease with a novel high shear rate, non-citrated blood flow device. (22265674)
2012
4
Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients. (22792389)
2012
5
Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease. (21534937)
2011
6
Advances in the diagnosis and management of type 1 von Willebrand disease. (21322782)
2011
7
Bleeding tendency and efficacy of anti-haemorrhagic treatments in patients with type 1 von Willebrand disease and increased von Willebrand factor clearance. (21264446)
2011
8
Functional characterization of a 13-bp deletion (c.-1522_-1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease. (20696945)
2010
9
Incidence of bleeding complications in pediatric patients with type 1 von Willebrand disease undergoing adenotonsillar procedures. (19394040)
2009
10
Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study. (19566550)
2009
11
Platelet von Willebrand factor determination does not improve the diagnosis of patients with suspected Type 1 von Willebrand disease. (18976254)
2009
12
Applying diagnostic criteria for type 1 von Willebrand disease to a pediatric population. (18816699)
2009
13
Considerations for epidural anesthesia in a patient with type 1 von Willebrand disease. (19921375)
2009
14
Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study. (19237732)
2009
15
Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. (18230755)
2008
16
Major haemorrhage related to surgery in patients with type 1 and possible type 1 von Willebrand disease. (18989523)
2008
17
Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD). (18344424)
2008
18
Type 1 von Willebrand disease: application of emerging data to clinical practice. (18510569)
2008
19
Re-evaluation of three Israeli families initially diagnosed with type 1 von Willebrand disease in light of the ISTH update on von Willebrand factor pathophysiology and classification. (18384353)
2008
20
Gastrointestinal bleeding due to angiodysplasia in patients with type 1 von Willebrand disease: report on association and management. (18070064)
2008
21
Type 1 von Willebrand disease. (17635702)
2007
22
Epidural analgesia for parturients with type 1 von Willebrand disease. (17509867)
2007
23
Impact of plasma von Willebrand factor levels in the diagnosis of type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1VWD). (17408405)
2007
24
Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques. (17488667)
2007
25
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). (16985174)
2007
26
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. (17190853)
2007
27
Genetics of type 1 von Willebrand disease. (17934350)
2007
28
Multiple von Willebrand factor mutations in patients with recessive type 1 von Willebrand disease. (17157361)
2007
29
A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). (16634745)
2006
30
Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival. (16835381)
2006
31
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. (17080221)
2006
32
Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. (16634746)
2006
33
Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype. (16359504)
2005
34
Effect of desmopressin on von Willebrand factor multimers in Doberman Pinschers with type 1 von Willebrand disease. (15938072)
2005
35
The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype. (15755288)
2005
36
The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. (16359502)
2005
37
Type 1 von Willebrand disease: a possible novel mechanism. (15166929)
2004
38
Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: is it a potential pathogenic process? (12911582)
2003
39
Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. (12649144)
2003
40
Deep vein thrombosis after orthopedic surgery in a patient with type 1 von Willebrand disease and mutations in the MTHFR and beta-fibrinogen genes. (14597997)
2003
41
Evaluation of high concentration intranasal and intravenous desmopressin in pediatric patients with mild hemophilia A or mild-to-moderate type 1 von Willebrand disease. (12032528)
2002
42
High-dose DDAVP intranasal spray (Stimate) for the prevention and treatment of bleeding in patients with mild haemophilia A, mild or moderate type 1 von Willebrand disease and symptomatic carriers of haemophilia A. (11380629)
2001
43
Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene. (11736956)
2001
44
Pregnancy in women with type 1 von Willebrand disease caused by heterozygosity for von Willebrand factor mutation C1130F. (10959713)
2000
45
Type 1 von Willebrand disease - a clinical retrospective study of the diagnosis, the influence of the ABO blood group and the role of the bleeding history. (10691852)
2000
46
Mutations in von Willebrand factor multimerization domains are not a common cause of classical type 1 von Willebrand disease. (10595636)
1999
47
Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. (10494765)
1999
48
Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. (8839833)
1996
49
The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor. (8562925)
1996
50
Combined hereditary disorders of haemophilia B Leyden (-6 G-->A) and type 1 von Willebrand disease. (8865521)
1996

Variations for Type 1 Von Willebrand Disease

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Type 1 Von Willebrand Disease:

65
id Symbol AA change Variation ID SNP ID
1VWFp.Arg273TrpVAR_010242rs61753997
2VWFp.Cys1149ArgVAR_064925

Clinvar genetic disease variations for Type 1 Von Willebrand Disease:

1
id Gene Name 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.2279G> A (p.Arg760His)single nucleotide variantPathogenicrs61748467GRCh37Chr 12, 6155891: 6155891

Expression for genes affiliated with Type 1 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 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:
51PathCards, 52PharmGKB, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 55R&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
19.7P2RY12, VWF
2
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
9.6F8, VWF
3
Show member pathways
9.6F8, VWF
4
Show member pathways
9.6F8, VWF
5
Show member pathways
9.2VWF, P2RY12, F8

Compounds for genes affiliated with Type 1 Von Willebrand Disease

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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB, 3BitterDB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Type 1 Von Willebrand Disease according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1ppack4610.1VWF, P2RY12
2tirofiban46 1211.1VWF, P2RY12
3abciximab46 1211.0VWF, P2RY12
4clopidogrel46 52 25 1213.0VWF, P2RY12
5recombinate4610.0VWF, F8
6thromboxane46 2511.0P2RY12, VWF
7tributylphosphate4610.0VWF, F8
8kogenate4610.0VWF, F8
9rfviii4610.0VWF, F8
10hydroxyethyl starch4610.0VWF, F8
11tranexamic acid46 1211.0VWF, F8
12pge1469.9P2RY12, VWF
13hirudin469.9F8, VWF
14ivig469.9VWF, F8
15acetaminophen46 3 52 25 1213.8F8, VWF
16n-ethylmaleimide46 1210.8VWF, STX2
17latex469.7F8, VWF
18ticlopidine46 1210.7P2RY12, ADAMTS13, VWF
19b vitamins469.7MTHFR, VWF
20prednisolone46 30 1211.6VWF, F8
21vincristine46 52 1211.6F8, ADAMTS13
22citrate469.6VWF, F8
23metformin46 52 1211.6MTHFR, VWF
24thromboxane a246 2510.6VWF, F8, P2RY12
25ristocetin469.6F8, ADAMTS13, VWF
26vitamin b12469.6MTHFR, VWF
27desmopressin46 62 30 1212.6VWF, ADAMTS13, F8
28betacarotene469.5VWF, MTHFR
29epinephrine46 25 1211.5P2RY12, F8, VWF
30rituximab46 52 1211.5VWF, F8, ADAMTS13
31p00001469.5MTHFR, F8
32adenine46 25 1211.2MTHFR, VWF
33warfarin46 52 25 1212.2MTHFR, F8, VWF
34adp46 30 2511.2VWF, F8, P2RY12
35homocysteine46 2510.2MTHFR, VWF, F8
36methionine469.1F8, VWF, MTHFR
37aspartate469.1F8, MTHFR, VWF
38cholesterol46 30 25 1211.9F8, MTHFR, VWF
39aspirin46 52 30 2511.8F8, MTHFR, P2RY12, VWF
40cyclophosphamide46 52 1210.7ADAMTS13, VWF, F8, MTHFR
41cyclosporin a46 30 6210.7ADAMTS13, F8, MTHFR, VWF
42serine468.6F8, MTHFR, ADAMTS13, VWF
43alanine468.5F8, MTHFR, VWF
44fibrinogen468.3P2RY12, VWF, ADAMTS13, MTHFR, F8
45creatinine468.3F8, MTHFR, P2RY12, ADAMTS13, VWF
46heparin46 30 25 1211.3F8, MTHFR, P2RY12, ADAMTS13, VWF
47calcium46 52 25 1211.0VWF, ADAMTS13, P2RY12, STXBP5, STX2, F8

GO Terms for genes affiliated with Type 1 Von Willebrand Disease

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17Gene 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:0310939.6F8, VWF

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

idNameGO IDScoreTop Affiliating Genes
1hemostasisGO:0075999.7VWF, P2RY12
2platelet degranulationGO:0025769.6VWF, F8
3blood coagulation, intrinsic pathwayGO:0075979.5VWF, F8
4blood coagulationGO:0075968.9VWF, P2RY12, F8
5platelet activationGO:0301688.8VWF, ADAMTS13, P2RY12, F8

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

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:0051789.6ADAMTS13, VWF

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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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