VWD
MCID: VNW001
MIFTS: 63

Von Willebrand's Disease (VWD)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Von Willebrand's Disease

MalaCards integrated aliases for Von Willebrand's Disease:

Name: Von Willebrand's Disease 12 15
Von Willebrand Disease 12 76 24 53 25 59 37 55 3 15 63 40 73
Von Willebrand Disorder 12 25 29 6
Vascular Pseudohemophilia 12 25
Vwd 53 3
Von Willebrand's Factor Deficiency 25
Von Willebrand's-Jurgens' Disease 12
Von Willebrand Factor, Deficiency 53
Hereditary Von Willebrand Disease 59
Von Willebrand Factor Deficiency 24
Von Willebrand-Jrgens Disease 12
Von Willebrand Diseases 44
Vascular Hemophilia 12
Angiohemophilia 25

Characteristics:

Orphanet epidemiological data:

59
von willebrand disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

GeneReviews:

24
Penetrance Type 1 vwd (ad)...

Classifications:



External Ids:

Disease Ontology 12 DOID:12531
ICD10 33 D68.0 D69.8
ICD9CM 35 286.4
MeSH 44 D014842
NCIt 50 C68677
SNOMED-CT 68 11093006
Orphanet 59 ORPHA903
ICD10 via Orphanet 34 D68.0
MESH via Orphanet 45 D014842
UMLS via Orphanet 74 C0042974
KEGG 37 H02092
UMLS 73 C0042974

Summaries for Von Willebrand's Disease

PubMed Health : 63 About von willebrand disease: Von Willebrand disease (VWD) is a bleeding disorder. It affects your blood's ability to clot. If your blood doesn't clot, you can have heavy, hard-to-stop bleeding after an injury. The bleeding can damage your internal organs. Rarely, the bleeding may even cause death.In VWD, you either have low levels of a certain protein in your blood or the protein doesn't work well. The protein is called von Willebrand factor, and it helps your blood clot.Normally, when one of your blood vessels is injured, you start to bleed. Small blood cell fragments called platelets (PLATE-lets) clump together to plug the hole in the blood vessel and stop the bleeding. Von Willebrand factor acts like glue to help the platelets stick together and form a blood clot.Von Willebrand factor also carries clotting factor VIII (8), another important protein that helps your blood clot. Factor VIII is the protein that's missing or doesn't work well in people who have hemophilia, another bleeding disorder.VWD is more common and usually milder than hemophilia. In fact, VWD is the most common inherited bleeding disorder. It occurs in about 1 out of every 100 to 1,000 people. VWD affects both males and females, while hemophilia mainly affects males.

MalaCards based summary : Von Willebrand's Disease, also known as von willebrand disease, is related to pseudo-von willebrand disease and von willebrand disease, type 2. An important gene associated with Von Willebrand's Disease is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Complement and coagulation cascades and Platelet activation. The drugs Factor VIII and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and endothelial, and related phenotypes are abnormal platelet function and venous insufficiency

Disease Ontology : 12 A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.

Genetics Home Reference : 25 Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. Mild forms of von Willebrand disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Women with this condition typically have heavy or prolonged bleeding during menstruation (menorrhagia), and some may also experience reproductive tract bleeding during pregnancy and childbirth. In severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Symptoms of von Willebrand disease may change over time. Increased age, pregnancy, exercise, and stress may cause bleeding symptoms to become less frequent.

NIH Rare Diseases : 53 Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, affer surgery, or having a tooth pulled. Affected women may have heavy menstrual bleeding. In severe cases, heavy bleeding occurs after minor injury or even in the absence of injury. It is divided into three types. Type 1 is the mildest and most common, and type 3 is the most severe and rarest form. Type 2 (four subtypes) is intermediate in severity. Increased age, pregnancy, exercise, and stress may cause von Willebrand factor levels in the blood to rise, which can make bleeding symptoms less frequent. This disease is caused by mutations in the VWF gene and can have different inheritance patterns. Treatment varies according to the severity of the disease and includes plasma-derived clotting factor concentrates, and other medications.  

CDC : 3 Meet three women and hear about their experiences living with von Willebrand Disease.

Wikipedia : 76 Von Willebrand disease (vWD) is the most common hereditary blood-clotting disorder in humans. An... more...

GeneReviews: NBK7014

Related Diseases for Von Willebrand's Disease

Diseases in the Von Willebrand's Disease family:

Pseudo-Von Willebrand Disease Von Willebrand Disease, Type 1
Von Willebrand Disease, Type 3 Von Willebrand Disease, Type 2
Acquired Von Willebrand Syndrome

Diseases related to Von Willebrand's Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 221)
# Related Disease Score Top Affiliating Genes
1 pseudo-von willebrand disease 34.8 GP1BA VWF
2 von willebrand disease, type 2 34.5 ADAMTS13 F3 F8 GP1BA VWF
3 von willebrand disease, type 1 34.5 F2 F3 F8 VWF
4 von willebrand disease, type 3 33.9 ANO2 F11 F3 F8 GP1BA VWF
5 acquired von willebrand syndrome 32.3 F11 F8 F9 GP1BA VWF
6 blood platelet disease 31.9 ADAMTS13 F2 F3 F8 GP1BA SELP
7 thrombocytopenia 30.8 ADAMTS13 F3 GP1BA
8 platelet aggregation, spontaneous 30.4 SELP VWF
9 arteries, anomalies of 30.1 F3 SELP VWF
10 acute myocardial infarction 30.0 F3 SELP VWF
11 factor xii deficiency 29.9 F3 F5 F9
12 hemarthrosis 29.9 F8 F9 VWF
13 factor vii deficiency 29.8 F2 F3 F8 F9
14 coronary artery anomaly 29.8 F2 F5 SELP
15 thrombasthenia 29.8 F2 F3 F5 GP1BA SELP
16 factor xiii deficiency 29.8 F3 F5 F8
17 bernard-soulier syndrome 29.8 F2 F8 GP1BA VWF
18 thrombocytosis 29.8 F2 F3 SELP
19 varicose veins 29.8 F2 F5 VWF
20 purpura 29.7 ADAMTS13 F2 F3 VWF
21 hemophilia b 29.7 F11 F2 F3 F8 F9
22 factor viii deficiency 29.7 F11 F2 F5 F8 VWF
23 thrombotic thrombocytopenic purpura 29.7 ADAMTS13 F3 SELP VWF
24 qualitative platelet defect 29.7 F2 F3 SELP VWF
25 thrombophilia due to thrombin defect 29.6 F2 F3 F5 F8 VWF
26 glanzmann thrombasthenia 29.5 F2 F3 F8 F9 GP1BA SELP
27 essential thrombocythemia 29.5 F2 F3 GP1BA SELP VWF
28 heart disease 29.4 F2 F3 F8 SELP VWF
29 factor xi deficiency 29.3 F11 F2 F3 F9
30 pre-eclampsia 29.3 F2 F3 F5 SELP VWF
31 hemophilia 29.3 F2 F3 F8 F9 VWF
32 thrombosis 29.2 ADAMTS13 F2 F3 F5 F8 F9
33 acquired hemophilia 29.1 F11 F3 F5 F8 F9
34 acquired hemophilia a 29.1 F11 F3 F5 F8 F9
35 afibrinogenemia 29.0 F11 F2 F3 F5 F8 VWF
36 hemophilia a 28.7 F11 F3 F5 F8 F9 VWF
37 myocardial infarction 28.3 ADAMTS13 F11 F2 F3 F5 F8
38 hemorrhagic disease 28.1 ADAMTS13 F11 F2 F3 F5 F8
39 von willebrand disease, x-linked form 12.3
40 angiodysplasia 10.4
41 myeloma, multiple 10.3
42 fainting 10.2 F8 VWF
43 cerebral arteritis 10.2 F8 VWF
44 bombay phenotype 10.2 ADAMTS13 VWF
45 hemorrhagic fever 10.2 F2 F3
46 active peptic ulcer disease 10.2 F2 VWF
47 hypothyroidism 10.2
48 cerebral falx meningioma 10.2 F2 F3
49 leech infestation 10.2 F2 F3
50 prothrombin deficiency 10.2 F2 F3

Comorbidity relations with Von Willebrand's Disease via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease

Graphical network of the top 20 diseases related to Von Willebrand's Disease:



Diseases related to Von Willebrand's Disease

Symptoms & Phenotypes for Von Willebrand's Disease

Human phenotypes related to Von Willebrand's Disease:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal platelet function 59 32 hallmark (90%) Very frequent (99-80%) HP:0011869
2 venous insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0005293
3 abnormality of coagulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001928
4 deviation of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004097
5 abnormality of thrombocytes 59 Very frequent (99-80%)
6 abnormality of the mitral valve 59 Frequent (79-30%)
7 abnormal mitral valve morphology 32 frequent (33%) HP:0001633

MGI Mouse Phenotypes related to Von Willebrand's Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.91 ADAMTS13 F11 F2 F3 F8 F9
2 cardiovascular system MP:0005385 9.87 F11 F2 F3 F5 F9 SELP
3 homeostasis/metabolism MP:0005376 9.85 ADAMTS13 F11 F2 F3 F5 F8
4 immune system MP:0005387 9.56 ADAMTS13 F11 F2 F3 F8 F9
5 mortality/aging MP:0010768 9.28 ADAMTS13 F11 F2 F3 F5 F8

Drugs & Therapeutics for Von Willebrand's Disease

PubMedHealth treatment related to Von Willebrand's Disease: 63

Treatment for von Willebrand disease (VWD) is based on the type of VWD you have and how severe it is. Most cases of VWD are mild, and you may need treatment only if you have surgery, tooth extraction, or an accident.Medicines are used to:Increase the amount of von Willebrand factor and factor VIII released into the bloodstreamReplace von Willebrand factorPrevent the breakdown of blood clotsControl heavy menstrual bleeding in women

Drugs for Von Willebrand's Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Factor VIII Phase 4,Phase 2,Phase 3,Phase 1
2 Coagulants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
3 Hemostatics Phase 4,Phase 3,Phase 2,Not Applicable
4 Vasopressins Phase 4,Phase 2,Not Applicable
5 arginine Phase 4,Phase 2,Not Applicable
6 Natriuretic Agents Phase 4,Phase 2,Not Applicable
7 Deamino Arginine Vasopressin Phase 4,Phase 2,Not Applicable
8 Arginine Vasopressin Phase 4,Phase 2,Not Applicable
9
Tranexamic Acid Approved Phase 3,Not Applicable 1197-18-8 5526
10 Pharmaceutical Solutions Phase 3,Phase 2
11 Antifibrinolytic Agents Phase 3,Not Applicable
12
Oprelvekin Approved, Investigational Phase 2 145941-26-0
13
Thrombin Approved, Investigational
14
Ibuprofen Approved Early Phase 1 15687-27-1 3672
15
Aspirin Approved, Vet_approved 50-78-2 2244
16 Analgesics Early Phase 1
17 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
18 Analgesics, Non-Narcotic Early Phase 1
19 Antirheumatic Agents Early Phase 1
20 Peripheral Nervous System Agents Early Phase 1
21 Anti-Inflammatory Agents Early Phase 1
22 Cyclooxygenase Inhibitors Early Phase 1
23 Complement System Proteins

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 Study of Voncento® in Subjects With Von Willebrand Disease Completed NCT02552576 Phase 4
2 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
3 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex in Surgical Subjects With Von Willebrand Disease (vWD) Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
4 Efficacy and Safety of Fanhdi®, a High-purity Von Willebrand Containing FVIII Concentrate, in Pediatric Patients With Von Willebrand Disease Recruiting NCT02472665 Phase 4 plasma-derived FVIII/VWF concentrate
5 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Active, not recruiting NCT00555555 Phase 4
6 Study of Biostate® in Children With Von Willebrand Disease Completed NCT01213446 Phase 3
7 Extension Study of Biostate in Subjects With Von Willebrand Disease Completed NCT01224808 Phase 3
8 Study of a pd VWF/FVIII Concentrate, Biostate®, in Subjects With Von Willebrand Disease Completed NCT00941616 Phase 2, Phase 3
9 Recombinant Von Willebrand Factor in Subjects With Severe Von Willebrand Disease Undergoing Surgery Completed NCT02283268 Phase 3
10 Pharmacokinetics, Safety and Efficacy of Recombinant Von Willebrand Factor (rVWF) in the Treatment of Bleeding Episodes in Von Willebrand Disease (VWD) Completed NCT01410227 Phase 3 Placebo
11 Wilate in Subjects With Von Willebrand Disease Who Undergo Surgery Completed NCT01365546 Phase 3
12 A Study to Compare the Pharmacokinetics and Safety of Current Factor VIII Concentrate and Optivate® in Haemophilia A. Completed NCT02246881 Phase 3
13 rVWF IN PROPHYLAXIS Recruiting NCT02973087 Phase 3
14 BAX 111 rVWF in Pediatrics Recruiting NCT02932618 Phase 3
15 Minimize Menorrhagia in Women With Type 1 Von Willebrand Disease Not yet recruiting NCT02606045 Phase 3 recombinant von Willebrand factor;tranexamic acid
16 Optivate in People With Von Willebrand Disease Undergoing Surgery Terminated NCT00404300 Phase 3 Optivate
17 A Study With OPTIVATE® in People With Von Willebrand Disease Terminated NCT00387192 Phase 3 Optivate
18 A Study to Compare the Pharmacokinetics and Safety of Optivate® and Haemate P® in Patients With Von Willebrand Disease. Completed NCT02250508 Phase 2
19 Phase II Study of IL-11 (Neumega) in Von Willebrand Disease Completed NCT00151125 Phase 2 recombinant interleukin-11;recombinant interleukin-11;recombinant interleukin-11
20 IL-11 in Women With Von Willebrand Disease and Refractory Menorrhagia Completed NCT00524342 Phase 2 Oprelvekin, Interleukin 11, IL-11
21 Efficacy and Safety of IL-11 in DDAVP Unresponsive Completed NCT00994929 Phase 2
22 ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779;ARC1779
23 Von Willebrand Factor Concentrate During ECMO Support Recruiting NCT03613584 Phase 2 Von Willebrand Factor;Saline Solution
24 IL-11 in Adults With Von Willebrand Disease Undergoing Surgery Terminated NCT00524225 Phase 2 Neumega (Oprelvekin, Interleukin 11, IL-11)
25 A Study of the Pharmacokinetics, Pharmacodynamics, and Safety of ARC1779 Injection in Patients With Von Willebrand Disease Type 2B Withdrawn NCT00694785 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779
26 Pharmacokinetic, Safety and Tolerability Study of Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex in Type 3 Von Willebrand Disease Completed NCT00816660 Phase 1
27 Phase I Study of Human Von Willebrand Factor for Von Willebrand's Disease Completed NCT00004667 Phase 1 von Willebrand factor
28 Performance Evaluation of Von Willebrand:Collagen-Binding Assays to Diagnose Von Willebrand Factor Deficiency in Patients With Increased Risk of Bleeding Unknown status NCT02792205
29 Global Hemostatic Methods in Hemophilia and Von Willebrand's Disease Unknown status NCT02061033
30 Type 3 Von Willebrand International Registries Inhibitor Prospective Study Unknown status NCT02460458
31 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
32 Gingival Bleeding and Von Willebrand Disease Typ 2 and 3 Completed NCT03078595
33 Surveillance of Safety and Efficacy of Wilate in Patients With Von Willebrand Disease Completed NCT01602419
34 National Study of Moderate and Severe Von Willebrand Disease in the Netherlands Completed NCT00510042
35 The Von Willebrand Disease (VWD) International Prophylaxis Study Completed NCT00557908 VWF/FVIII products
36 Study on Von Willebrand Disease and Hemophilia in Cuenca, Ecuador Completed NCT01589848
37 Willebrand International Non-interventional Global Surveillance Completed NCT01949220
38 A Canadian Study to Assess the Safety of Humate-P® Ivr (Infusion Volume Reduced) Completed NCT00701545
39 Acquired Von Willebrand Syndrome in Severe Aortic Stenosis Completed NCT00805051
40 Treatment and Management of Women With Bleeding Disorders Completed NCT00111215 Not Applicable Tranexamic Acid;Desmopressin Acetate
41 The Use of Cyclokapron for Treatment and Management of Women With Bleeding Disorders Completed NCT00697385 Not Applicable Cyclokapron
42 Moxibustion for Primary Dysmenorrhea Completed NCT01972906 Early Phase 1 Ibuprofen Sustained Release Capsules
43 Investigating a Von Willebrand Factor (VWF) Functional Screening Assay for Assigning the Phenotypic Variants of Von Willebrand Disease (VWD) Recruiting NCT02466789
44 Molecular and Clinical Profile of Von Willebrand Disease in Spain Recruiting NCT02869074
45 Frequency of Hemorrhages Associated With the Functional Anomalies of Willebrand Factor in Emergency Patients Recruiting NCT03070912
46 Low VW Activity in Adolescent HMB Recruiting NCT02933411
47 Clinical Performance Evaluation of T-TAS 01 PL Chip Recruiting NCT03621020
48 Low Von Willebrand in Ireland Cohort Study Recruiting NCT03167320
49 Prospective Psychometric Evaluation Study of a Patient-reported Outcomes (PRO) Instrument for Congenital Thrombotic Thrombocytopenic Purpura (cTTP, Upshaw-Schulman Syndrome [USS], Hereditary Thrombotic Thrombocytopenic Purpura [hTTP] Recruiting NCT03519672
50 Prevalence, Risk Factors and Consequences Related to Cesarean Scar Defect (Defect in Cesarean Scar) Active, not recruiting NCT02717312

Search NIH Clinical Center for Von Willebrand's Disease

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: von willebrand diseases

Genetic Tests for Von Willebrand's Disease

Genetic tests related to Von Willebrand's Disease:

# Genetic test Affiliating Genes
1 Von Willebrand Disorder 29

Anatomical Context for Von Willebrand's Disease

MalaCards organs/tissues related to Von Willebrand's Disease:

41
Testes, Heart, Endothelial, Lung, Liver, Myeloid, Placenta

Publications for Von Willebrand's Disease

Articles related to Von Willebrand's Disease:

(show top 50) (show all 2289)
# Title Authors Year
1
Genetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients. ( 29389944 )
2018
2
Current challenges in the diagnosis and management of patients with inherited von Willebrand's disease in Italy: an Expert Meeting Report on the diagnosis and surgical and secondary long-term prophylaxis. ( 29313798 )
2018
3
Successful treatment of severe menorrhagia at menarche with recombinant factor VIIa in an adolescent girl with type III von Willebrand's disease. ( 29750671 )
2018
4
Lenalidomide as a novel therapy for gastrointestinal angiodysplasia in von Willebrand disease. ( 29446520 )
2018
5
Evaluation of the Utility of von Willebrand Factor Propeptide in the Differential Diagnosis of von Willebrand Disease and Acquired von Willebrand Syndrome. ( 29913537 )
2018
6
Liver transplantation in hemophilia A and von Willebrand disease type 3: perioperative management and post-transplant outcome. ( 29931985 )
2018
7
Differences in von Willebrand factor function in type 2A von Willebrand disease and left ventricular assist device-induced acquired von Willebrand syndrome. ( 30397685 )
2018
8
Acquired von Willebrand Disease Secondary to Clear Cell Renal Cell Carcinoma. ( 30065959 )
2018
9
Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease. ( 30551951 )
2018
10
Diagnosis and Management of Acquired von Willebrand Disease in Heart Disease: A Review of the Literature. ( 30458570 )
2018
11
Dental extractions in patients with mild hemophilia A and hemophilia B and von Willebrand disease without clotting factor supplementation. ( 30057379 )
2018
12
Acquired von Willebrand Disease Associated with Mantle Cell Lymphoma. ( 29651351 )
2018
13
Management of pregnancy and emergency caesarean delivery in a patient with type IIB von Willebrand disease and severe preeclampsia: A case report and literature review. ( 29997693 )
2018
14
von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina. ( 29271313 )
2018
15
A 12.3-kb Duplication Within the VWF Gene in Pigs Affected by Von Willebrand Disease Type 3. ( 29208651 )
2018
16
Use of thromboelastography in the management of a patient with acquired von Willebrand disease undergoing cardiac bypass surgery. ( 28106909 )
2018
17
Multiple myeloma and acquired von Willebrand disease: a combined cause of preanalytical interference causing gel formation? ( 28490182 )
2018
18
Successful treatment of acquired von Willebrand disease with lenalidomide leading to dramatic resolution of intractable gastrointestinal bleeding: A case report. ( 29578269 )
2018
19
Sports participation and physical activity in patients with von Willebrand disease. ( 30427095 )
2018
20
Cardiovascular disease-related hospitalization and mortality among persons with von Willebrand disease: A nationwide register study in Sweden. ( 30468283 )
2018
21
Characterization of VWF gene conversions causing von Willebrand disease. ( 30488424 )
2018
22
Thrombin generation during a regular menstrual cycle in women with von Willebrand disease. ( 30504807 )
2018
23
The Association of Aging With Von Willebrand Factor Levels and Bleeding Risk in Type 1 Von Willebrand Disease. ( 28874064 )
2018
24
Evaluation of a microfluidic flow assay to screen for von Willebrand disease and low von Willebrand factor levels. ( 29064615 )
2018
25
Outgrowing the laboratory diagnosis of type 1 von Willebrand disease: A two decade study. ( 29098718 )
2018
26
Type 2N von Willebrand disease: Characterization and diagnostic difficulties. ( 29115006 )
2018
27
Bleeding score in Type 1 von Willebrand disease patients using the ISTH-BAT questionnaire. ( 29115727 )
2018
28
Alloantibodies in von Willebrand Disease. ( 29165738 )
2018
29
The increasing maturity of the von Willebrand factor collagen binding in von Willebrand disease diagnosis. ( 29168609 )
2018
30
Type 1 von Willebrand disease due to a vicinal cysteine loss (p.C524Y) disclosed after a thrombotic episode. ( 29220693 )
2018
31
Preanalytical issues that may cause misdiagnosis in haemophilia and von Willebrand disease. ( 29271545 )
2018
32
High and long-term von Willebrand factor expression after Sleeping Beauty transposon-mediated gene therapy in a mouse model of severe von Willebrand disease. ( 29288565 )
2018
33
Circulating Angiogenic Mediators in Patients with Moderate and Severe von Willebrand Disease: A Multicentre Cross-Sectional Study. ( 29304535 )
2018
34
Is gingival bleeding a symptom of type 2 and 3 von Willebrand disease? ( 29370241 )
2018
35
A Mechanistic Model to Quantify von Willebrand Factor Release, Survival and Proteolysis in Patients with von Willebrand Disease. ( 29378356 )
2018
36
How I treat type 2B von Willebrand disease. ( 29378695 )
2018
37
Comprehensive re-evaluation of historical von Willebrand disease diagnosis in association with whole blood platelet aggregation and function. ( 29427305 )
2018
38
Guided Implant Surgery to Reduce Morbidity in Von Willebrand Disease Patients: A Case Report. ( 29492173 )
2018
39
A case report on the successful perioperative management of hepatectomy for hepatocellular carcinoma in a patient with von Willebrand disease. ( 29501017 )
2018
40
Analysis of current perioperative management with Haemate® P/Humate P® in von Willebrand disease: Identifying the need for personalized treatment. ( 29573506 )
2018
41
Inheritance of von Willebrand disease Vicenza in a Japanese family. ( 29578258 )
2018
42
Bleeding-related hospitalization in patients with von Willebrand disease and the impact of prophylaxis: Results from national registers in Sweden compared with normal controls and participants in the von Willebrand Disease Prophylaxis Network. ( 29626372 )
2018
43
Management of pregnancy complications in type 2N von Willebrand disease associated to a novel mutation. ( 29656540 )
2018
44
Replacement therapy during surgery in von Willebrand disease needs personalization. ( 29665194 )
2018
45
Type 3 von Willebrand disease mistaken for moderate haemophilia A: a lesson still to be learned. ( 29665224 )
2018
46
Fifth Åland Island conference on von Willebrand disease. ( 29687935 )
2018
47
Current approaches to pregnancy and childbirth in women with von Willebrand disease. ( 29742079 )
2018
48
A comparative analysis of different automated von Willebrand factor glycoprotein Ib-binding activity assays in well typed von Willebrand disease patients. ( 29742318 )
2018
49
Patterns of von Willebrand Disease Screening in Girls and Adolescents With Heavy Menstrual Bleeding. ( 29742662 )
2018
50
Bleeding score in type 1 von Willebrand disease patients using the condensed MCMDM-1 vWD validated questionnaire. ( 29754468 )
2018

Variations for Von Willebrand's Disease

ClinVar genetic disease variations for Von Willebrand's Disease:

6 (show top 50) (show all 250)
# Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.3946G> A (p.Val1316Met) single nucleotide variant Pathogenic rs61749397 GRCh37 Chromosome 12, 6128638: 6128638
2 VWF NM_000552.4(VWF): c.3946G> A (p.Val1316Met) single nucleotide variant Pathogenic rs61749397 GRCh38 Chromosome 12, 6019472: 6019472
3 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh37 Chromosome 12, 6143978: 6143978
4 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh38 Chromosome 12, 6034812: 6034812
5 VWF NM_000552.4(VWF): c.4751A> G (p.Tyr1584Cys) single nucleotide variant risk factor rs1800386 GRCh37 Chromosome 12, 6127833: 6127833
6 VWF NM_000552.4(VWF): c.4751A> G (p.Tyr1584Cys) single nucleotide variant risk factor rs1800386 GRCh38 Chromosome 12, 6018667: 6018667
7 VWF NM_000552.4(VWF): c.3797C> T (p.Pro1266Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs61749370 GRCh37 Chromosome 12, 6128787: 6128787
8 VWF NM_000552.4(VWF): c.3797C> T (p.Pro1266Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs61749370 GRCh38 Chromosome 12, 6019621: 6019621
9 VWF NM_000552.4(VWF): c.1728G> T (p.Met576Ile) single nucleotide variant Likely benign rs150146744 GRCh37 Chromosome 12, 6167016: 6167016
10 VWF NM_000552.4(VWF): c.1728G> T (p.Met576Ile) single nucleotide variant Likely benign rs150146744 GRCh38 Chromosome 12, 6057850: 6057850
11 VWF NM_000552.4(VWF): c.2220G> A (p.Met740Ile) single nucleotide variant Benign/Likely benign rs2228317 GRCh37 Chromosome 12, 6155950: 6155950
12 VWF NM_000552.4(VWF): c.2220G> A (p.Met740Ile) single nucleotide variant Benign/Likely benign rs2228317 GRCh38 Chromosome 12, 6046784: 6046784
13 VWF NM_000552.4(VWF): c.2451T> A (p.His817Gln) single nucleotide variant Benign/Likely benign rs57950734 GRCh37 Chromosome 12, 6145649: 6145649
14 VWF NM_000552.4(VWF): c.2451T> A (p.His817Gln) single nucleotide variant Benign/Likely benign rs57950734 GRCh38 Chromosome 12, 6036483: 6036483
15 VWF NM_000552.4(VWF): c.3797C> A (p.Pro1266Gln) single nucleotide variant Pathogenic rs61749370 GRCh37 Chromosome 12, 6128787: 6128787
16 VWF NM_000552.4(VWF): c.3797C> A (p.Pro1266Gln) single nucleotide variant Pathogenic rs61749370 GRCh38 Chromosome 12, 6019621: 6019621
17 VWF NM_000552.4(VWF): c.3925A> G (p.Ile1309Val) single nucleotide variant Pathogenic rs61749389 GRCh37 Chromosome 12, 6128659: 6128659
18 VWF NM_000552.4(VWF): c.3925A> G (p.Ile1309Val) single nucleotide variant Pathogenic rs61749389 GRCh38 Chromosome 12, 6019493: 6019493
19 VWF NM_000552.4(VWF): c.4115T> G (p.Ile1372Ser) single nucleotide variant Pathogenic rs61750070 GRCh37 Chromosome 12, 6128469: 6128469
20 VWF NM_000552.4(VWF): c.4115T> G (p.Ile1372Ser) single nucleotide variant Pathogenic rs61750070 GRCh38 Chromosome 12, 6019303: 6019303
21 VWF NM_000552.4(VWF): c.4120C> T (p.Arg1374Cys) single nucleotide variant Pathogenic rs61750071 GRCh37 Chromosome 12, 6128464: 6128464
22 VWF NM_000552.4(VWF): c.4120C> T (p.Arg1374Cys) single nucleotide variant Pathogenic rs61750071 GRCh38 Chromosome 12, 6019298: 6019298
23 VWF NM_000552.4(VWF): c.5191T> A (p.Ser1731Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61750603 GRCh37 Chromosome 12, 6125802: 6125802
24 VWF NM_000552.4(VWF): c.5191T> A (p.Ser1731Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61750603 GRCh38 Chromosome 12, 6016636: 6016636
25 VWF NM_000552.4(VWF): c.6187C> T (p.Pro2063Ser) single nucleotide variant Benign/Likely benign rs61750615 GRCh37 Chromosome 12, 6103650: 6103650
26 VWF NM_000552.4(VWF): c.6187C> T (p.Pro2063Ser) single nucleotide variant Benign/Likely benign rs61750615 GRCh38 Chromosome 12, 5994484: 5994484
27 VWF NM_000552.4(VWF): c.6554G> A (p.Arg2185Gln) single nucleotide variant Benign/Likely benign rs2229446 GRCh37 Chromosome 12, 6103072: 6103072
28 VWF NM_000552.4(VWF): c.6554G> A (p.Arg2185Gln) single nucleotide variant Benign/Likely benign rs2229446 GRCh38 Chromosome 12, 5993906: 5993906
29 VWF NM_000552.4(VWF): c.2880G> A (p.Arg960=) single nucleotide variant Benign/Likely benign rs1800380 GRCh37 Chromosome 12, 6138595: 6138595
30 VWF NM_000552.4(VWF): c.2880G> A (p.Arg960=) single nucleotide variant Benign/Likely benign rs1800380 GRCh38 Chromosome 12, 6029429: 6029429
31 VWF NM_000552.4(VWF): c.5369C> T (p.Pro1790Leu) single nucleotide variant Uncertain significance rs551649729 GRCh37 Chromosome 12, 6125341: 6125341
32 VWF NM_000552.4(VWF): c.5369C> T (p.Pro1790Leu) single nucleotide variant Uncertain significance rs551649729 GRCh38 Chromosome 12, 6016175: 6016175
33 VWF NM_000552.4(VWF): c.954T> A (p.Asn318Lys) single nucleotide variant Benign/Likely benign rs1800387 GRCh37 Chromosome 12, 6182828: 6182828
34 VWF NM_000552.4(VWF): c.954T> A (p.Asn318Lys) single nucleotide variant Benign/Likely benign rs1800387 GRCh38 Chromosome 12, 6073662: 6073662
35 VWF NM_000552.4(VWF): c.7997C> T (p.Thr2666Met) single nucleotide variant Likely benign rs78353028 GRCh37 Chromosome 12, 6061675: 6061675
36 VWF NM_000552.4(VWF): c.7997C> T (p.Thr2666Met) single nucleotide variant Likely benign rs78353028 GRCh38 Chromosome 12, 5952509: 5952509
37 VWF NM_000552.4(VWF): c.8113G> A (p.Gly2705Arg) single nucleotide variant Benign/Likely benign rs7962217 GRCh37 Chromosome 12, 6061559: 6061559
38 VWF NM_000552.4(VWF): c.8113G> A (p.Gly2705Arg) single nucleotide variant Benign/Likely benign rs7962217 GRCh38 Chromosome 12, 5952393: 5952393
39 VWF NM_000552.4(VWF): c.7887+12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs55687637 GRCh38 Chromosome 12, 5967474: 5967474
40 VWF NM_000552.4(VWF): c.7887+12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs55687637 GRCh37 Chromosome 12, 6076640: 6076640
41 VWF NM_000552.4(VWF): c.7771-13C> T single nucleotide variant Benign/Likely benign rs11063962 GRCh37 Chromosome 12, 6076781: 6076781
42 VWF NM_000552.4(VWF): c.7771-13C> T single nucleotide variant Benign/Likely benign rs11063962 GRCh38 Chromosome 12, 5967615: 5967615
43 VWF NM_000552.4(VWF): c.7682T> A (p.Phe2561Tyr) single nucleotide variant Benign/Likely benign rs35335161 GRCh37 Chromosome 12, 6078424: 6078424
44 VWF NM_000552.4(VWF): c.7682T> A (p.Phe2561Tyr) single nucleotide variant Benign/Likely benign rs35335161 GRCh38 Chromosome 12, 5969258: 5969258
45 VWF NM_000552.4(VWF): c.7239T> C (p.Thr2413=) single nucleotide variant Benign/Likely benign rs216867 GRCh37 Chromosome 12, 6091000: 6091000
46 VWF NM_000552.4(VWF): c.7239T> C (p.Thr2413=) single nucleotide variant Benign/Likely benign rs216867 GRCh38 Chromosome 12, 5981834: 5981834
47 VWF NM_000552.4(VWF): c.7082-7C> T single nucleotide variant Benign/Likely benign rs216868 GRCh38 Chromosome 12, 5981998: 5981998
48 VWF NM_000552.4(VWF): c.7082-7C> T single nucleotide variant Benign/Likely benign rs216868 GRCh37 Chromosome 12, 6091164: 6091164
49 VWF NM_000552.4(VWF): c.6846A> G (p.Thr2282=) single nucleotide variant Benign/Likely benign rs1053523 GRCh37 Chromosome 12, 6094784: 6094784
50 VWF NM_000552.4(VWF): c.6846A> G (p.Thr2282=) single nucleotide variant Benign/Likely benign rs1053523 GRCh38 Chromosome 12, 5985618: 5985618

Expression for Von Willebrand's Disease

Search GEO for disease gene expression data for Von Willebrand's Disease.

Pathways for Von Willebrand's Disease

Pathways related to Von Willebrand's Disease according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610
2 Platelet activation hsa04611

Pathways related to Von Willebrand's Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 F11 F2 F3 F5 F8 F9
2
Show member pathways
12.46 F11 F2 F3 F5 F8 F9
3 11.64 F11 F2 F3 F5 F8 F9
4
Show member pathways
11.54 F2 GP1BA VWF
5
Show member pathways
11.43 F11 F2 F3 F5 F8 F9
6 10.61 F2 F9
7 10.52 GP1BA VWF
8 10.32 GP1BA VWF

GO Terms for Von Willebrand's Disease

Cellular components related to Von Willebrand's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 ANO2 F11 F2 F3 F5 F8
2 extracellular region GO:0005576 9.76 ADAMTS13 F11 F2 F3 F5 F8
3 platelet alpha granule lumen GO:0031093 9.43 F5 F8 VWF
4 COPII-coated ER to Golgi transport vesicle GO:0030134 9.4 F5 F8
5 platelet alpha granule GO:0031091 9.37 F5 VWF
6 endoplasmic reticulum lumen GO:0005788 9.35 ADAMTS13 F2 F5 F8 F9
7 extracellular space GO:0005615 9.28 ADAMTS13 F11 F2 F3 F5 F8

Biological processes related to Von Willebrand's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.81 ADAMTS13 F11 F2 F3 F5 F8
2 proteolysis GO:0006508 9.78 ADAMTS13 F11 F2 F9
3 ER to Golgi vesicle-mediated transport GO:0006888 9.71 F2 F5 F8 F9
4 platelet degranulation GO:0002576 9.67 F5 F8 SELP VWF
5 platelet activation GO:0030168 9.65 ADAMTS13 F2 F8 GP1BA VWF
6 hemostasis GO:0007599 9.61 ADAMTS13 F11 F2 F3 F5 F8
7 regulation of blood coagulation GO:0030193 9.5 F11 F2 GP1BA
8 acute-phase response GO:0006953 9.46 F2 F8
9 fibrinolysis GO:0042730 9.43 F2 GP1BA
10 blood coagulation, intrinsic pathway GO:0007597 9.1 F11 F2 F8 F9 GP1BA VWF

Molecular functions related to Von Willebrand's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.67 ADAMTS13 F2 F9 SELP
2 peptidase activity GO:0008233 9.56 ADAMTS13 F11 F2 F9
3 heparin binding GO:0008201 9.33 F11 F2 SELP
4 lipopolysaccharide binding GO:0001530 9.32 F2 SELP
5 serine-type peptidase activity GO:0008236 9.13 F11 F2 F9
6 serine-type endopeptidase activity GO:0004252 8.92 F11 F2 F3 F9

Sources for Von Willebrand's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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