MCID: TYP013
MIFTS: 55

Type 1 Von Willebrand Disease malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Type 1 Von Willebrand Disease

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MalaCards based summary: Type 1 Von Willebrand Disease, also known as von willebrand disease, type 1, is related to von willebrand's disease and thrombocytopenia, and has symptoms including platelets function anomaly, clotting/hemostasis disorders and autosomal dominant inheritance. 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.

Descriptions from OMIM:46 193400,277480,314560,613554

Aliases & Classifications for Type 1 Von Willebrand Disease

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Sources:
48Orphanet, 20GeneTests, 22GTR, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Type 1 Von Willebrand Disease, Aliases & Descriptions:

Name: Type 1 Von Willebrand Disease 20 22
Von Willebrand Disease, Type 1 46 62
Hereditary Von Willebrand Disease 48
 
Von Willebrand Disease Type 1 48
Von Willebrand Disease 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

MESH via Orphanet35 D056725, D014842
ICD10 via Orphanet26 D68.0
UMLS via Orphanet63 C1264039, C0042974

Related Diseases for Type 1 Von Willebrand Disease

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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 103)
idRelated DiseaseScoreTop Affiliating Genes
1von willebrand's disease31.3F8, ADAMTS13, VWF
2thrombocytopenia30.9ADAMTS13, VWF, F8
3factor viii deficiency30.8VWF, F8
4factor xi deficiency30.8F8
5hemarthrosis30.5VWF, F8
6blood platelet disease30.5F8, VWF
7afibrinogenemia30.5F8, VWF
8bernard-soulier syndrome30.5VWF, F8
9atherosclerosis30.3MTHFR, P2RY12, VWF
10hypothyroidism30.2VWF, F8
11systemic lupus erythematosus30.1ADAMTS13, F8, VWF
12myocardial infarction29.7VWF, F8, MTHFR, P2RY12, ADAMTS13
13type 2b von willebrand disease11.0
14type 2a von willebrand disease10.8
15von willebrand disease, types 2a, 2b, 2m, and 2n10.8
16pseudo-von willebrand disease10.8
17type 2m von willebrand disease10.8
18type 3 von willebrand disease10.7
19hemophilia10.5
20von willibrand disease, type 310.5
21factor xii deficiency10.5VWF
22mild hemophilia a10.5
23coronary thrombosis10.5VWF
24hemophilia b10.4
25thrombotic thrombocytopenic purpura, acquired10.4ADAMTS13
26central retinal vein occlusion10.4MTHFR
27purpura10.4ADAMTS13
28aortic valve stenosis10.4
29acquired von willebrand syndrome10.4
30thrombasthenia10.4
31endotheliitis10.4
32thrombophlebitis10.3F8
33angiodysplasia10.3
34endometriosis10.3
35gingivitis10.3
36type 2n von willebrand disease10.3
37severe hemophilia a10.3
38hemolytic-uremic syndrome10.3ADAMTS13, VWF
39peripheral vascular disease10.3VWF, MTHFR
40hemorrhagic disease10.2VWF, F8
41stroke, ischemic10.2VWF, MTHFR
42hemolytic anemia10.2VWF, ADAMTS13
43glanzmann's thrombasthenia10.2F8, VWF
44portal vein thrombosis10.1F8, MTHFR
45aortic atherosclerosis10.1
46common variable immunodeficiency10.1
47craniosynostosis10.1
48factor vii deficiency10.1
49hemangioma10.1
50hepatitis10.1

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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Symptoms by clinical synopsis from OMIM:

193400

Clinical features from OMIM:

193400,277480,314560,613554

Symptoms:

48
  • platelets function anomaly
  • clotting/hemostasis disorders
  • autosomal dominant inheritance
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • varices/varicous veins/venous insufficiency

HPO human phenotypes related to Type 1 Von Willebrand Disease:

(show all 19)
id Description Frequency HPO Source Accession
1 abnormality of thrombocytes hallmark (90%) HP:0001872
2 abnormality of coagulation hallmark (90%) HP:0001928
3 abnormality of the mitral valve typical (50%) HP:0001633
4 deviation of finger occasional (7.5%) HP:0004097
5 venous insufficiency occasional (7.5%) HP:0005293
6 autosomal dominant inheritance HP:0000006
7 menorrhagia HP:0000132
8 epistaxis HP:0000421
9 gastrointestinal angiodysplasia HP:0000471
10 bruising susceptibility HP:0000978
11 mitral valve prolapse HP:0001634
12 aortic valve stenosis HP:0001650
13 gastrointestinal hemorrhage HP:0002239
14 prolonged bleeding time HP:0003010
15 reduced factor viii activity HP:0003125
16 impaired platelet aggregation HP:0003540
17 incomplete penetrance HP:0003829
18 joint hemorrhage HP:0005261
19 prolonged whole-blood clotting time HP:0005542

Drugs & Therapeutics for Type 1 Von Willebrand Disease

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Drug clinical trials:

Search ClinicalTrials for Type 1 Von Willebrand Disease

Search NIH Clinical Center for Type 1 Von Willebrand Disease

Genetic Tests for Type 1 Von Willebrand Disease

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

32
Testes

Animal Models for Type 1 Von Willebrand Disease or affiliated genes

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MGI Mouse Phenotypes related to Type 1 Von Willebrand Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.1F8, STX2, P2RY12, ADAMTS13, VWF
2MP:00107687.7F8, MTHFR, STXBP5, ADAMTS13, VWF
3MP:00053767.6VWF, ADAMTS13, P2RY12, MTHFR, F8

Publications for Type 1 Von Willebrand Disease

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Articles related to Type 1 Von Willebrand Disease:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
Quantitative impact of using different criteria for the laboratory diagnosis of type 1 von Willebrand disease. (24796601)
2014
2
Desmopressin responsiveness at a capped dose of 15a88I1g in type 1 von Willebrand disease and mild hemophilia A. (24911459)
2014
3
Is gingival bleeding a symptom of patients with type 1 von Willebrand disease? A case-control study. (24814158)
2014
4
Response to low-dose desmopressin by a subcutaneous route in children with type 1 von Willebrand disease. (23321055)
2013
5
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
6
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
7
Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients. (22792389)
2012
8
Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease. (21534937)
2011
9
Advances in the diagnosis and management of type 1 von Willebrand disease. (21322782)
2011
10
Bleeding tendency and efficacy of anti-haemorrhagic treatments in patients with type 1 von Willebrand disease and increased von Willebrand factor clearance. (21264446)
2011
11
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
12
Incidence of bleeding complications in pediatric patients with type 1 von Willebrand disease undergoing adenotonsillar procedures. (19394040)
2009
13
Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study. (19566550)
2009
14
Platelet von Willebrand factor determination does not improve the diagnosis of patients with suspected Type 1 von Willebrand disease. (18976254)
2009
15
Applying diagnostic criteria for type 1 von Willebrand disease to a pediatric population. (18816699)
2009
16
Considerations for epidural anesthesia in a patient with type 1 von Willebrand disease. (19921375)
2009
17
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
18
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
19
Major haemorrhage related to surgery in patients with type 1 and possible type 1 von Willebrand disease. (18989523)
2008
20
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
21
Type 1 von Willebrand disease: application of emerging data to clinical practice. (18510569)
2008
22
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
23
Gastrointestinal bleeding due to angiodysplasia in patients with type 1 von Willebrand disease: report on association and management. (18070064)
2008
24
Type 1 von Willebrand disease. (17635702)
2007
25
Epidural analgesia for parturients with type 1 von Willebrand disease. (17509867)
2007
26
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
27
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
28
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
29
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. (17190853)
2007
30
Genetics of type 1 von Willebrand disease. (17934350)
2007
31
A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). (16634745)
2006
32
Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival. (16835381)
2006
33
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. (17080221)
2006
34
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
35
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
36
Effect of desmopressin on von Willebrand factor multimers in Doberman Pinschers with type 1 von Willebrand disease. (15938072)
2005
37
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
38
The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. (16359502)
2005
39
Type 1 von Willebrand disease: a possible novel mechanism. (15166929)
2004
40
Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: is it a potential pathogenic process? (12911582)
2003
41
Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. (12649144)
2003
42
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
43
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
44
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
45
Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene. (11736956)
2001
46
Pregnancy in women with type 1 von Willebrand disease caused by heterozygosity for von Willebrand factor mutation C1130F. (10959713)
2000
47
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
48
Mutations in von Willebrand factor multimerization domains are not a common cause of classical type 1 von Willebrand disease. (10595636)
1999
49
Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. (10494765)
1999
50
Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. (8839833)
1996

Variations for Type 1 Von Willebrand Disease

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UniProtKB/Swiss-Prot genetic disease variations for Type 1 Von Willebrand Disease:

64
id Symbol AA change Variation ID SNP ID
1VWFp.Arg273TrpVAR_010242rs61753997
2VWFp.Cys1149ArgVAR_064925

Clinvar genetic disease variations for Type 1 Von Willebrand Disease:

6
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.3437A> G (p.Tyr1146Cys)single nucleotide variantPathogenicrs267607326GRCh37Chr 12, 6132007: 6132007
8VWFVWF, TRP1745CYSundetermined variantPathogenic
9VWFNM_000552.3(VWF): c.2279G> A (p.Arg760His)single nucleotide variantPathogenicrs61748467GRCh37Chr 12, 6155891: 6155891
10VWFNM_000552.3(VWF): c.5347T> G (p.Ser1783Ala)single nucleotide variantPathogenicrs267607353GRCh37Chr 12, 6125363: 6125363

Expression for genes affiliated with Type 1 Von Willebrand Disease

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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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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 Pathway37
Complement and Coagulation Cascades37
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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Compounds related to Type 1 Von Willebrand Disease according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1ppack4410.1P2RY12, VWF
2tirofiban44 1111.1P2RY12, VWF
3abciximab44 1111.0P2RY12, VWF
4clopidogrel44 50 24 1113.0P2RY12, VWF
5recombinate4410.0VWF, F8
6thromboxane44 2411.0VWF, P2RY12
7kogenate4410.0F8, VWF
8tributylphosphate4410.0F8, VWF
9rfviii4410.0VWF, F8
10hydroxyethyl starch4410.0VWF, F8
11tranexamic acid44 1111.0F8, VWF
12pge1449.9P2RY12, VWF
13hirudin449.9F8, VWF
14ivig449.9F8, VWF
15acetaminophen44 2 50 24 1113.8F8, VWF
16n-ethylmaleimide44 1110.8STX2, VWF
17latex449.7F8, VWF
18ticlopidine44 1110.7P2RY12, ADAMTS13, VWF
19b vitamins449.7MTHFR, VWF
20prednisolone44 28 1111.6F8, VWF
21vincristine44 50 1111.6F8, ADAMTS13
22citrate449.6VWF, F8
23vitamin b12449.6VWF, MTHFR
24thromboxane a244 2410.6F8, P2RY12, VWF
25ristocetin449.6VWF, ADAMTS13, F8
26metformin44 50 1111.6VWF, MTHFR
27desmopressin44 61 28 1112.6F8, ADAMTS13, VWF
28betacarotene449.5MTHFR, VWF
29epinephrine44 24 1111.5VWF, P2RY12, F8
30rituximab44 50 1111.5VWF, ADAMTS13, F8
31p00001449.5MTHFR, F8
32adenine44 24 1111.2MTHFR, VWF
33warfarin44 50 24 1112.2VWF, MTHFR, F8
34adp44 28 2411.2F8, P2RY12, VWF
35homocysteine44 2410.2F8, MTHFR, VWF
36methionine449.1F8, MTHFR, VWF
37aspartate449.1F8, MTHFR, VWF
38cholesterol44 28 24 1111.9VWF, MTHFR, F8
39aspirin44 50 28 2411.8VWF, P2RY12, MTHFR, F8
40cyclophosphamide44 50 1110.7VWF, ADAMTS13, MTHFR, F8
41cyclosporin a44 28 6110.7F8, MTHFR, ADAMTS13, VWF
42serine448.6VWF, ADAMTS13, MTHFR, F8
43alanine448.5F8, MTHFR, VWF
44fibrinogen448.3F8, MTHFR, P2RY12, ADAMTS13, VWF
45creatinine448.3VWF, ADAMTS13, P2RY12, MTHFR, F8
46heparin44 28 24 1111.3F8, MTHFR, P2RY12, ADAMTS13, VWF
47calcium44 50 24 1111.0F8, STX2, STXBP5, P2RY12, ADAMTS13, VWF

GO Terms for genes affiliated with Type 1 Von Willebrand Disease

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet