VWD
MCID: VNW001
MIFTS: 64

Von Willebrand's Disease (VWD)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare 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 75 24 53 25 59 37 55 3 15 63 40 72 33
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
KEGG 37 H02092
ICD9CM 35 286.4
MeSH 44 D014842
NCIt 50 C68677
SNOMED-CT 68 11093006
ICD10 33 D68.0 D69.8
MESH via Orphanet 45 D014842
ICD10 via Orphanet 34 D68.0
UMLS via Orphanet 73 C0042974
Orphanet 59 ORPHA903
UMLS 72 C0042974

Summaries for Von Willebrand's Disease

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. Von Willebrand disease is divided into three types, with type 2 being further divided into four subtypes. Type 1 is the mildest and most common of the three types, accounting for 75 percent of affected individuals. Type 3 is the most severe and rarest form of the condition. The four subtypes of type 2 von Willebrand disease are intermediate in severity. Another form of the disorder, acquired von Willebrand syndrome, is not caused by inherited gene mutations. Acquired von Willebrand syndrome is typically seen along with other disorders, such as diseases that affect bone marrow or immune cell function. This rare form of the condition is characterized by abnormal bleeding into the skin and other soft tissues, usually beginning in adulthood.

MalaCards based summary : Von Willebrand's Disease, also known as von willebrand disease, is related to von willebrand disease, type 1 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 Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, endothelial and bone, and related phenotypes are abnormal platelet function and abnormality of coagulation

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.

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 Von Willebrand disease (VWD) is a blood disorder in which the blood does not clot properly. Blood contains many proteins that help the body stop bleeding. One of these proteins is called von Willebrand factor (VWF). People with VWD either have a low level of VWF in their blood or the VWF protein doesn't work the way it should. Normally, when a person is injured and starts to bleed, the VWF in the blood attaches to small blood cells called platelets. This helps the platelets stick together, like glue, to form a clot at the site of injury and stop the bleeding. When a person has VWD, because the VWF doesn't work the way it should, the clot might take longer to form or not form the way it should, and bleeding might take longer to stop. This can lead to heavy, hard-to-stop bleeding. Although rare, the bleeding can be severe enough to damage joints or internal organs, or even be life-threatening.

KEGG : 37
Von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder characterized by abnormal quantity or quality of von Willebrand factor (VWF). Type 1 VWD exhibits a mild to moderate reduction in functionally normal VWF; type 2 VWF involves the expression of functionally abnormal VWF; and type 3 VWD occurs the virtually complete absence of VWF. Clinical symptoms of VWD include predominantly mild mucosal bleeding. Joint bleeding can occur in the most severe forms.

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.

Wikipedia : 75 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 416)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 1 33.4 VWF F8 F3 F2
2 von willebrand disease, type 2 33.1 VWF GP1BA F8 F3 ADAMTS13
3 von willebrand disease, type 3 32.0 VWF GP1BA F8 F3 F11 ANO2
4 thrombocytopenia 31.5 GP1BA F3 ADAMTS13
5 pseudo-von willebrand disease 31.3 VWF GP1BA
6 platelet aggregation, spontaneous 31.3 VWF SELP
7 active peptic ulcer disease 30.9 VWF F2
8 femoral neuropathy 30.8 F3 F2
9 hemophilia 30.6 VWF F9 F8 F3 F2
10 hemarthrosis 30.6 VWF F9 F8
11 bernard-soulier syndrome 30.6 VWF GP1BA F8 F2
12 coronary thrombosis 30.5 VWF GP1BA F3
13 purpura 30.3 VWF F3 F2 ADAMTS13
14 acute myocardial infarction 30.3 VWF SELP F3
15 intermediate coronary syndrome 30.3 VWF SELP F3
16 afibrinogenemia, congenital 30.2 VWF F3 F2
17 arteries, anomalies of 30.1 VWF SELP F3
18 thrombocytosis 30.1 SELP F3 F2
19 thrombotic thrombocytopenic purpura 30.1 VWF SELP F3 ADAMTS13
20 antithrombin iii deficiency 30.0 F5 F2
21 central retinal vein occlusion 30.0 F5 F2
22 retinal vein occlusion 30.0 F5 F2
23 factor xiii deficiency 30.0 F8 F5 F3
24 varicose veins 29.9 VWF F5 F2
25 factor xii deficiency 29.9 F9 F5 F3
26 dysfibrinogenemia 29.9 F5 F2
27 placental abruption 29.8 F5 F2
28 infective endocarditis 29.7 GP1BA F2
29 thrombocytopenic purpura, autoimmune 29.7 SELP GP1BA
30 thrombophlebitis 29.7 F8 F5 F2
31 essential thrombocythemia 29.6 VWF SELP GP1BA F3 F2
32 intracranial thrombosis 29.6 VWF F8 F5 F3
33 factor viii deficiency 29.6 VWF F8 F5 F2 F11
34 thrombophilia due to thrombin defect 29.5 VWF F8 F5 F3 F2
35 factor vii deficiency 29.5 F9 F8 F3 F2
36 thrombasthenia 29.5 SELP GP1BA F5 F3 F2
37 coronary artery anomaly 29.5 SELP F5 F2
38 qualitative platelet defect 29.4 VWF SELP F3 F2
39 factor xi deficiency 29.3 F9 F3 F2 F11
40 pulmonary embolism 29.0 VWF F9 F5 F3 F2
41 heart disease 29.0 VWF SELP F8 F3 F2
42 hemophilia a 29.0 VWF F9 F8 F5 F3 F11
43 acquired von willebrand syndrome 28.9 VWF GP1BA F9 F8 F11
44 hemophilia b 28.9 F9 F8 F3 F2 F11
45 pre-eclampsia 28.7 VWF SELP F5 F3 F2
46 disseminated intravascular coagulation 28.5 F9 F5 F3 F2 ADAMTS13
47 glanzmann thrombasthenia 28.4 VWF SELP GP1BA F9 F8 F3
48 blood platelet disease 28.4 VWF SELP GP1BA F8 F3 F2
49 acquired hemophilia 28.4 F9 F8 F5 F3 F11
50 vascular disease 28.3 VWF SELP GP1BA F5 F3 F2

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

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

PubMed Health 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 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2 Antifibrinolytic Agents Phase 4
3 Coagulants Phase 4
4 Hemostatics Phase 4
5 arginine Phase 4
6 Deamino Arginine Vasopressin Phase 4
7 Arginine Vasopressin Phase 4
8 Vasopressins Phase 4
9 Natriuretic Agents Phase 4
10 Protamines Phase 4
11 Pharmaceutical Solutions Phase 3
12
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
13
Pasireotide Approved Phase 2 396091-73-9 9941444
14
Oprelvekin Approved, Investigational Phase 2 145941-26-0
15 Hormones Phase 2
16 Hormone Antagonists Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
18 Factor VIII Phase 1
19
Sodium citrate Approved, Investigational 68-04-2
20
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
21 Citrate
22 Complement System Proteins

Interventional clinical trials:

(show top 50) (show all 80)
# Name Status NCT ID Phase Drugs
1 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex (Humate-P®) Using Individualized Dosing in Pediatric and Adult Surgical Subjects With Von Willebrand's Disease. Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
2 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
3 An Open-label, Multi-centre Post-marketing Study to Assess the Efficacy and Safety of Voncento® in Subjects With Von Willebrand Disease Completed NCT02552576 Phase 4
4 Effects of Desmopressin on Blood Loss and the Quality of the Surgical Field During Endoscopic Sinus Surgery Completed NCT02125188 Phase 4 Desmopressin;saline
5 The Assessment of the Minimal Effective and Tolerated Dose of Tranexamic Acid in Women With Menorrhagia Who Have Bleeding Disorders Completed NCT00904709 Phase 4 tranexamic acid
6 Evaluation of the Pharmacokinetic Profile, Clinical Efficacy and Safety of the Von Willebrand Factor Contained in FANHDI® (Double-inactivated Human Anti-hemophilic Factor) in Pediatric Subjects With Severe Von Willebrand Disease Recruiting NCT02472665 Phase 4 plasma-derived FVIII/VWF concentrate
7 A Post-marketing Observation Study to Assess the Efficacy and Safety of the FVIII/VWF Complex (Human,) Alphanate(R), in Preventing Excessive Bleeding During Surgery in Subjects With Congenital Type 3 Von Willebrand Disease Active, not recruiting NCT00555555 Phase 4
8 Placebo-Controlled, Randomized, Double-Blind Trial of Prophylactic Desmopressin in Heart Valve Surgery Active, not recruiting NCT03343418 Phase 4 Desmopressin;Placebo
9 A Phase 3 Clinical Study to Determine the Pharmacokinetics, Safety and Efficacy of Recombinant Von Willebrand Factor : Recombinant Factor VIII (rVWF:rFVIII) and rVWF in the Treatment of Bleeding Episodes in Subjects Diagnosed With Von Willebrand Disease Completed NCT01410227 Phase 3 Placebo
10 A Phase III Open-label, Multi-centre Study to Assess the Pharmacokinetics, Efficacy, and Safety of Biostate® in Paediatric Subjects With Von Willebrand Disease Completed NCT01213446 Phase 3
11 Prospective, Open-Label, Multi-Center, Phase III CLinical Study to Investigate the Efficacy and Safety of Human Factor VWF/FVIII Concentrate (Wilate) in Subjects With Inherited Von Willebrand Disease Who Undergo Surgical Procedures Completed NCT01365546 Phase 3
12 A Phase 3, Prospective, Multicenter Study to Evaluate Efficacy and Safety of Recombinant Von Willebrand Factor (rVWF) With or Without ADVATE in Elective Surgical Procedures in Subjects With Severe Von Willebrand Disease Completed NCT02283268 Phase 3
13 An Open Study to Compare the Pharmacokinetics and Safety of Current Factor VIII Concentrate and Optivate® in Severe Haemophilia A Patients. Completed NCT02246881 Phase 3
14 An Open-Label, Multi-Centre Extension Study to Assess the Efficacy and Safety of Biostate® in Paediatric, Adolescent, and Adult Subjects With Von Willebrand Disease Who Completed Clinical Studies CSLCT-BIO-08-52 or CSLCTBIO-08-54 Completed NCT01224808 Phase 3
15 An Open-label, Multi-centre Study to Assess the Pharmacokinetics, Efficacy and Safety of Biostate® in Subjects With Von Willebrand Disease. Completed NCT00941616 Phase 2, Phase 3
16 Combined Multi-marker Screening and Randomised Patient Treatment With Aspirin for Evidence-based Pre-eclampsia Prevention. University College London - Sponsor of All EU Study Sites. Completed NCT02301780 Phase 3 Aspirin;Placebo
17 A Phase 3, Prospective, Multicenter, Uncontrolled, Open-Label Clinical Study to Determine the Efficacy, Safety, and Tolerability of rVWF With or Without ADVATE in the Treatment and Control of Bleeding Episodes, the Efficacy and Safety of rVWF in Elective and Emergency Surgeries, and the Pharmacokinetics (PK) of rVWF in Children Diagnosed With Severe Von Willebrand Disease Recruiting NCT02932618 Phase 3
18 A PROSPECTIVE, PHASE 3, OPEN-LABEL, INTERNATIONAL MULTICENTER STUDY ON EFFICACY AND SAFETY OF PROPHYLAXIS WITH rVWF IN SEVERE VON WILLEBRAND DISEASE Recruiting NCT02973087 Phase 3
19 A Phase 3b, Prospective, Open-label, Uncontrolled, Multicenter Study on Long-term Safety and Efficacy of rVWF in Pediatric and Adult Subjects With Severe Von Willebrand Disease (VWD) Recruiting NCT03879135 Phase 3
20 Prospective, Randomized, Crossover Trial Comparing Recombinant Von Willebrand Factor (rVWF) vs. Tranexamic Acid (TA) to Minimize Menorrhagia in Women With Type 1 Von Willebrand Disease: The VWD Minimize Study Recruiting NCT02606045 Phase 3 recombinant von Willebrand factor;tranexamic acid
21 Clinical Study to Investigate the Efficacy and Safety of Wilate During Prophylaxis in Previously Treated Patients With Von Willebrand Disease (VWD) Enrolling by invitation NCT04052698 Phase 3 Wilate
22 An Open Multi-centre Study to Investigate the Safety and Efficacy of OPTIVATE®, a High Purity, Dual Inactivated Factor VIII and Von Willebrand Factor Concentrate, in Patients With Von Willebrand Disease Who Are Undergoing Surgery Terminated NCT00404300 Phase 3 Optivate
23 An Open Multi-centre Study in Patients With Von Willebrand Disease to Investigate the Pharmacokinetics, Efficacy and Safety of OPTIVATE®, a High Purity, Dual Inactivated Factor VIII and Von Willebrand Factor Concentrate Terminated NCT00387192 Phase 3 Optivate
24 A Randomised, Comparative, Single Dose, Open Study to Compare the Pharmacokinetics and Safety of Optivate® and Haemate P® in Patients With Different Types of Von Willebrand Disease. Completed NCT02250508 Phase 2
25 Phase II Clinical Efficacy Trial of Recombinant Interleukin-11 (rhIL-11, Neumega) in Women With Type 1 Von Willebrand Disease and Refractory Menorrhagia Completed NCT00524342 Phase 2 Oprelvekin, Interleukin 11, IL-11
26 Phase II Biologic Effects Study of Recombinant Interleukin-11 (rhIL-11, Neumega) in Subjects With Moderate or Mild Hemophilia A, or Von Willebrand Disease Unable to Use DDAVP Completed NCT00994929 Phase 2
27 A Phase 2 Pilot Study of the Safety, Pharmacokinetics, and Pharmacodynamics of ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779;ARC1779
28 Randomized Phase II Trial Evaluating the Efficiency of Pasireotide for the Treatment of Gastrointestinal Angiodysplasia in Endoscopic Treatment Failure Completed NCT02622906 Phase 2 Pasireotide;Placebo
29 A Double-blind, Placebo-controlled Pilot Trial to Investigate the Administration of Von Willebrand Factor Concentrate (Willfact®, LFB France) in Adult Patients During Extracorporeal Membrane Oxygenation Recruiting NCT03613584 Phase 2 Von Willebrand Factor;Saline Solution
30 Phase II Clinical Efficacy Trial of Recombinant Interleukin-11 (rhIL-11, Neumega) in Subjects With Type 1 Von Willebrand Disease Undergoing Surgery Terminated NCT00524225 Phase 2 Neumega (Oprelvekin, Interleukin 11, IL-11)
31 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
32 Bleeding Volume Test: A Double-Blind Crossover Randomized Clinical Trial of an In-Vivo On-Line Test for Aspirin Effect and Resistance Unknown status NCT01047722 Phase 1 Aspirin ingestion followed by doing a Bleeding Volume Test
33 Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex (rVWF:rFVIII): A Phase 1 Study Evaluating the Pharmacokinetics (PK), Safety, and Tolerability in Type 3 Von Willebrand Disease (VWD) Completed NCT00816660 Phase 1
34 Phase I Study of Human Von Willebrand Factor for Von Willebrand's Disease Completed NCT00004667 Phase 1 von Willebrand factor
35 Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers Completed NCT02506023 Phase 1 Desmopressin
36 Phase 1 Study to Assess the Safety of 500mg of Aspirin Added to IV TPA at Standard Doses to Prevent Re-occlusion of Cerebral Vessels After Successful Reperfusion. Withdrawn NCT00417898 Phase 1 Aspirin
37 Type 3 Von Willebrand International Registries Inhibitor Prospective Study Unknown status NCT02460458
38 GLOBAL HEMOSTATIC METHODS IN HEMOPHILIA AND VON WILLEBRAND'S DISEASE CORRELATION WITH PATIENTS' CLINICAL STATUS AND USEFULNESS FOR TREATMENT MONITORING Unknown status NCT02061033
39 Protocol for the Determination of Menstrual Blood Losses in Women Affected by Congenital Bleeding Disorders Unknown status NCT01261936
40 Protocol for the Determination of Menstrual Losses Using a System for the Quantitative Determination of Menses (Quantitative Evaluation of Menses [QUEM] Method) and Its Application to Healthy Women With Apparently Normal Cycles Unknown status NCT01276964
41 International Post-Marketing Surveillance of Willfact-Wilfactin in Patients With Inherited Von Willebrand Disease. Completed NCT01949220
42 Surveillance of Safety and Efficacy of Wilate in Patients With Von Willebrand Disease Completed NCT01602419
43 Treatment and Management of Women With Bleeding Disorders Completed NCT00111215 Tranexamic Acid;Desmopressin Acetate
44 A Canadian, Multi-center, Prospective, Open-label, Observational, Pharmacovigilance Study to Assess the Safety of Humate-P® Ivr (Infusion Volume Reduced) in Patients Transitioning From Treatment With Currently Available Humate-P® Completed NCT00701545
45 National Study of Moderate and Severe Von Willebrand Disease in the Netherlands Completed NCT00510042
46 Study on Von Willebrand Disease and Hemophilia in Cuenca, Ecuador Completed NCT01589848
47 The VWD International Prophylaxis (VIP) Study Completed NCT00557908 VWF/FVIII products
48 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Observed in Patients With Lowe Syndrome Completed NCT01314560
49 Does an Acquired Von Willebrand Syndrome Influence Perioperative Blood Loss in Patients With Severe Aortic Stenosis Undergoing Aortic Valve Replacement? Completed NCT00805051
50 Is Gingival Bleeding a Symptom of Patients With Type 2 and 3 Von Willebrand Disease? A Case-Control Study Completed NCT03078595

Search NIH Clinical Center for Von Willebrand's Disease

Inferred drug relations via UMLS 72 / NDF-RT 51 :


antihemophilic factor, human
Antihemophilic Factor, Human Recombinant
Antihemophilic factor, porcine
ANTIHEMOPHILIC FACTOR,HUMAN,METHOD M,MONOCLONAL
desmopressin
Desmopressin Acetate
Factor VIII

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, Endothelial, Bone, Bone Marrow, Skin, Heart, Liver

Publications for Von Willebrand's Disease

Articles related to Von Willebrand's Disease:

(show top 50) (show all 4748)
# Title Authors PMID Year
1
A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE. 38 4 71
20351307 2010
2
The genetic basis of von Willebrand disease. 38 4 71
20409624 2010
3
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. 38 4 71
19372260 2009
4
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. 38 4 71
17080221 2006
5
Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. 38 4 71
16889557 2006
6
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. 9 38 71
15461624 2004
7
Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. 9 38 71
1832934 1991
8
Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor. 38 71
19687512 2009
9
Bleeding symptoms and laboratory correlation in patients with severe von Willebrand disease. 9 38 4
19473418 2009
10
von Willebrand Disease 38 71
20301765 2009
11
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. 9 38 4
18805962 2009
12
Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). 9 38 4
18315556 2008
13
The use of desmopressin in von Willebrand disease: the experience of the first 30 years (1977-2007). 9 38 4
18173689 2008
14
Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival. 9 38 4
16835381 2006
15
Inherited and de novo von Willebrand disease 'Vicenza' in UK families with the R1205H mutation: diagnostic pitfalls and new insights. 38 71
16925796 2006
16
Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification. 9 38 4
16862525 2006
17
Type 2N von Willebrand disease. 9 38 4
16131435 2005
18
The elusive pathogenesis of von Willebrand disease Vicenza. 38 71
12043692 2002
19
Reduced von Willebrand factor survival in type Vicenza von Willebrand disease. 38 71
11756169 2002
20
Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins. 38 71
11698279 2001
21
Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. 38 71
10669167 2000
22
New families with von Willebrand disease type 2M (Vicenza). 38 71
9253800 1997
23
Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. 38 71
8839833 1996
24
The genetic defect of type I von Willebrand disease "Vicenza" is linked to the von Willebrand factor gene. 38 71
8456430 1993
25
Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. 38 71
1415226 1992
26
Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III. 38 71
1301136 1992
27
A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. 38 71
1581215 1992
28
von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers. 38 71
3257148 1988
29
Pharmacokinetics, efficacy, and safety of a plasma-derived VWF/FVIII concentrate (VONCENTO) for on-demand and prophylactic treatment in patients with von Willebrand disease (SWIFT-VWD study). 38 4
27203734 2017
30
Diagnosing von Willebrand disease: genetic analysis. 38 4
27913546 2016
31
New treatment approaches to von Willebrand disease. 38 4
27913547 2016
32
Acquired von Willebrand Syndrome. 38 4
28028990 2016
33
von Willebrand disease in pregnancy. 38 4
27719779 2016
34
Von Willebrand Disease and Pregnancy: A Review of Evidence and Expert Opinion. 38 4
27648611 2016
35
Practical aspects of factor concentrate use in patients with von Willebrand disease undergoing invasive procedures: a European survey. 38 4
27292438 2016
36
Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami. 38 4
27344059 2016
37
Von Willebrand factor (Vonvendi®): the first recombinant product licensed for the treatment of von Willebrand disease. 38 4
27427955 2016
38
Bleeding Assessment Tools: Limits and Advantages for the Diagnosis and Prognosis of Inherited Bleeding Disorders. 38 4
27096763 2016
39
Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality. 38 4
27148840 2016
40
Von Willebrand factor for menorrhagia: a survey and literature review. 38 4
26843404 2016
41
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture. 38 4
26986123 2016
42
Platelet type von Willebrand disease and registry report: communication from the SSC of the ISTH. 38 4
26882161 2016
43
Practical aspects of DDAVP use in patients with von Willebrand Disease undergoing invasive procedures: a European survey. 38 4
26207933 2016
44
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm. 38 4
26245874 2016
45
Human von Willebrand factor/factor VIII concentrates in the management of pediatric patients with von Willebrand disease/hemophilia A. 38 4
27445481 2016
46
Utility of a Paediatric Bleeding Questionnaire as a screening tool for von Willebrand disease in apparently healthy children. 38 4
25982122 2015
47
Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype. 38 4
26207643 2015
48
Crucial role for the VWF A1 domain in binding to type IV collagen. 38 4
25662333 2015
49
Postpartum von Willebrand factor levels in women with and without von Willebrand disease and implications for prophylaxis. 38 4
25333737 2015
50
Management of pregnancy in type 2B von Willebrand disease: case report and literature review. 38 4
25431025 2015

Variations for Von Willebrand's Disease

ClinVar genetic disease variations for Von Willebrand's Disease:

6 (show top 50) (show all 135)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VWF NM_000552.4(VWF): c.4883T> C (p.Ile1628Thr) single nucleotide variant Pathogenic rs61750584 12:6127701-6127701 12:6018535-6018535
2 VWF NM_000552.4(VWF): c.3946G> A (p.Val1316Met) single nucleotide variant Pathogenic rs61749397 12:6128638-6128638 12:6019472-6019472
3 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 12:6143978-6143978 12:6034812-6034812
4 VWF NM_000552.4(VWF): c.3797C> A (p.Pro1266Gln) single nucleotide variant Pathogenic rs61749370 12:6128787-6128787 12:6019621-6019621
5 VWF NM_000552.4(VWF): c.3925A> G (p.Ile1309Val) single nucleotide variant Pathogenic rs61749389 12:6128659-6128659 12:6019493-6019493
6 VWF NM_000552.4(VWF): c.4115T> G (p.Ile1372Ser) single nucleotide variant Pathogenic rs61750070 12:6128469-6128469 12:6019303-6019303
7 VWF NM_000552.4(VWF): c.4120C> T (p.Arg1374Cys) single nucleotide variant Pathogenic rs61750071 12:6128464-6128464 12:6019298-6019298
8 VWF NM_000552.4(VWF): c.4135C> T (p.Arg1379Cys) single nucleotide variant Pathogenic rs61750074 12:6128449-6128449 12:6019283-6019283
9 VWF NM_000552.4(VWF): c.7390C> T (p.Arg2464Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61751286 12:6085324-6085324 12:5976158-5976158
10 VWF NM_000552.4(VWF): c.3179del (p.Cys1060fs) deletion Likely pathogenic rs762105711 12:6134789-6134789 12:6025623-6025623
11 VWF NM_000552.4(VWF): c.7056C> T (p.Gly2352=) single nucleotide variant Likely pathogenic 12:6092341-6092341 12:5983175-5983175
12 VWF NM_000552.4(VWF): c.2303G> A (p.Arg768Gln) single nucleotide variant Likely pathogenic 12:6153596-6153596 12:6044430-6044430
13 VWF NM_000552.4(VWF): c.114C> T (p.Phe38=) single nucleotide variant Conflicting interpretations of pathogenicity rs2229443 12:6230446-6230446 12:6121280-6121280
14 VWF NM_000552.4(VWF): c.1077C> T (p.Pro359=) single nucleotide variant Conflicting interpretations of pathogenicity rs71582884 12:6181529-6181529 12:6072363-6072363
15 VWF NM_000552.4(VWF): c.5191T> A (p.Ser1731Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61750603 12:6125802-6125802 12:6016636-6016636
16 VWF NM_000552.4(VWF): c.4751A> G (p.Tyr1584Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1800386 12:6127833-6127833 12:6018667-6018667
17 VWF NM_000552.4(VWF): c.3797C> T (p.Pro1266Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs61749370 12:6128787-6128787 12:6019621-6019621
18 VWF NM_000552.4(VWF): c.7887+12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs55687637 12:6076640-6076640 12:5967474-5967474
19 VWF NM_000552.4(VWF): c.391G> A (p.Gly131Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76505074 12:6219681-6219681 12:6110515-6110515
20 VWF NM_000552.4(VWF): c.5277C> T (p.Asp1759=) single nucleotide variant Conflicting interpretations of pathogenicity rs41276736 12:6125716-6125716 12:6016550-6016550
21 VWF NM_000552.4(VWF): c.3538+6G> T single nucleotide variant Uncertain significance rs886049742 12:6131900-6131900 12:6022734-6022734
22 VWF NM_000552.4(VWF): c.3379+12C> T single nucleotide variant Uncertain significance rs374393996 12:6132785-6132785 12:6023619-6023619
23 VWF NM_000552.4(VWF): c.2289G> A (p.Arg763=) single nucleotide variant Uncertain significance rs886049743 12:6153610-6153610 12:6044444-6044444
24 VWF NM_000552.4(VWF): c.2103C> T (p.Cys701=) single nucleotide variant Uncertain significance rs78995469 12:6161792-6161792 12:6052626-6052626
25 VWF NM_000552.4(VWF): c.1596C> T (p.Gly532=) single nucleotide variant Uncertain significance rs111240043 12:6167148-6167148 12:6057982-6057982
26 VWF NM_000552.4(VWF): c.5049A> C (p.Ala1683=) single nucleotide variant Uncertain significance rs79275181 12:6127535-6127535 12:6018369-6018369
27 VWF NM_000552.4(VWF): c.8096A> G (p.His2699Arg) single nucleotide variant Uncertain significance rs886049736 12:6061576-6061576 12:5952410-5952410
28 VWF NM_000552.4(VWF): c.7729+8A> G single nucleotide variant Uncertain significance rs775123891 12:6078369-6078369 12:5969203-5969203
29 VWF NM_000552.4(VWF): c.7362C> T (p.Thr2454=) single nucleotide variant Uncertain significance rs146504585 12:6085352-6085352 12:5976186-5976186
30 VWF NM_000552.4(VWF): c.6196A> G (p.Asn2066Asp) single nucleotide variant Uncertain significance rs886049738 12:6103641-6103641 12:5994475-5994475
31 VWF NM_000552.4(VWF): c.5369C> T (p.Pro1790Leu) single nucleotide variant Uncertain significance rs551649729 12:6125341-6125341 12:6016175-6016175
32 VWF NM_000552.4(VWF): c.4457C> T (p.Ser1486Leu) single nucleotide variant Uncertain significance 12:6128127-6128127 12:6018961-6018961
33 VWF NM_000552.4(VWF): c.6433C> T (p.Pro2145Ser) single nucleotide variant Uncertain significance rs61750618 12:6103193-6103193 12:5994027-5994027
34 VWF NM_000552.4(VWF): c.1051G> A (p.Val351Met) single nucleotide variant Uncertain significance rs535978867 12:6181555-6181555 12:6072389-6072389
35 VWF NM_000552.4(VWF): c.-72C> T single nucleotide variant Uncertain significance rs886049746 12:6233658-6233658 12:6124492-6124492
36 VWF NM_000552.4(VWF): c.7947C> T (p.Cys2649=) single nucleotide variant Uncertain significance rs748907832 12:6062701-6062701 12:5953535-5953535
37 VWF NM_000552.4(VWF): c.7790T> A (p.Ile2597Asn) single nucleotide variant Uncertain significance rs886049737 12:6076749-6076749 12:5967583-5967583
38 VWF NM_000552.4(VWF): c.6902-5T> A single nucleotide variant Uncertain significance rs112046757 12:6094290-6094290 12:5985124-5985124
39 VWF NM_000552.4(VWF): c.6756G> A (p.Glu2252=) single nucleotide variant Uncertain significance rs71581020 12:6101027-6101027 12:5991861-5991861
40 VWF NM_000552.4(VWF): c.6611C> T (p.Pro2204Leu) single nucleotide variant Uncertain significance rs777556669 12:6101172-6101172 12:5992006-5992006
41 VWF NM_000552.4(VWF): c.6043G> A (p.Glu2015Lys) single nucleotide variant Uncertain significance rs775806908 12:6105188-6105188 12:5996022-5996022
42 VWF NM_000552.4(VWF): c.5533G> A (p.Asp1845Asn) single nucleotide variant Uncertain significance rs201548925 12:6122734-6122734 12:6013568-6013568
43 VWF NM_000552.4(VWF): c.4103T> C (p.Ile1368Thr) single nucleotide variant Uncertain significance rs199675425 12:6128481-6128481 12:6019315-6019315
44 VWF NM_000552.4(VWF): c.3952G> A (p.Val1318Met) single nucleotide variant Uncertain significance rs372028373 12:6128632-6128632 12:6019466-6019466
45 VWF NM_000552.4(VWF): c.3720G> A (p.Pro1240=) single nucleotide variant Uncertain significance rs141792415 12:6128864-6128864 12:6019698-6019698
46 VWF NM_000552.4(VWF): c.3539-15A> G single nucleotide variant Uncertain significance rs748934603 12:6131216-6131216 12:6022050-6022050
47 VWF NM_000552.4(VWF): c.3162G> C (p.Thr1054=) single nucleotide variant Uncertain significance rs754421736 12:6134806-6134806 12:6025640-6025640
48 VWF NM_000552.4(VWF): c.2547-5C> T single nucleotide variant Uncertain significance rs373203368 12:6143997-6143997 12:6034831-6034831
49 VWF NM_000552.4(VWF): c.2281+13C> T single nucleotide variant Uncertain significance rs183077797 12:6155876-6155876 12:6046710-6046710
50 VWF NM_000552.4(VWF): c.2025G> A (p.Pro675=) single nucleotide variant Uncertain significance rs779045480 12:6161870-6161870 12:6052704-6052704

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 VWF SELP GP1BA F9 F8 F5
2
Show member pathways
12.46 F9 F8 F5 F3 F2 F11
3 11.64 VWF F9 F8 F5 F3 F2
4
Show member pathways
11.54 VWF GP1BA F2
5
Show member pathways
11.43 VWF GP1BA F9 F8 F5 F3
6 11.14 SELP GP1BA
7 10.61 F9 F2
8 10.52 VWF GP1BA
9 10.32 VWF GP1BA

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 SELP GP1BA F9 F8 F5 F3
2 extracellular region GO:0005576 9.76 VWF F9 F8 F5 F3 F2
3 platelet alpha granule lumen GO:0031093 9.43 VWF F8 F5
4 COPII-coated ER to Golgi transport vesicle GO:0030134 9.4 F8 F5
5 platelet alpha granule GO:0031091 9.37 VWF F5
6 endoplasmic reticulum lumen GO:0005788 9.35 F9 F8 F5 F2 ADAMTS13
7 extracellular space GO:0005615 9.28 SELP GP1BA F9 F8 F5 F3

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.78 F9 F2 F11 ADAMTS13
2 ER to Golgi vesicle-mediated transport GO:0006888 9.71 F9 F8 F5 F2
3 platelet degranulation GO:0002576 9.67 VWF SELP F8 F5
4 platelet activation GO:0030168 9.65 VWF GP1BA F8 F2 ADAMTS13
5 blood coagulation, intrinsic pathway GO:0007597 9.63 VWF GP1BA F9 F8 F2 F11
6 hemostasis GO:0007599 9.61 VWF GP1BA F9 F8 F5 F3
7 regulation of blood coagulation GO:0030193 9.5 GP1BA F2 F11
8 acute-phase response GO:0006953 9.46 F8 F2
9 fibrinolysis GO:0042730 9.43 GP1BA F2
10 blood coagulation GO:0007596 9.28 VWF GP1BA F9 F8 F5 F3

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 SELP F9 F2 ADAMTS13
2 peptidase activity GO:0008233 9.56 F9 F2 F11 ADAMTS13
3 heparin binding GO:0008201 9.33 SELP F2 F11
4 lipopolysaccharide binding GO:0001530 9.32 SELP F2
5 serine-type peptidase activity GO:0008236 9.13 F9 F2 F11
6 serine-type endopeptidase activity GO:0004252 8.92 F9 F3 F2 F11

Sources for Von Willebrand's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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