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VWD
MCID: VNW001
MIFTS: 64

Von Willebrand's Disease (VWD)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Von Willebrand's Disease

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MalaCards integrated aliases for Von Willebrand's Disease:

Name: Von Willebrand's Disease 12 15
Von Willebrand Disease 12 73 25 20 43 58 36 54 3 15 62 39 70 32
Von Willebrand Disorder 12 43 29 6
Hereditary Von Willebrand Disease 20 58
Vascular Pseudohemophilia 12 43
Vwd 20 3
Von Willebrand's Factor Deficiency 43
Von Willebrand's-Jurgens' Disease 12
Von Willebrand Factor, Deficiency 20
Von Willebrand Factor Deficiency 25
Von Willebrand-Jrgens Disease 12
Von Willebrand Diseases 44
Vascular Hemophilia 12
Angiohemophilia 43

Characteristics:

Orphanet epidemiological data:

58
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:

25
Penetrance Type 1 vwd (ad)...

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:12531
KEGG 36 H02092
ICD9CM 34 286.4
MeSH 44 D014842
NCIt 50 C68677
SNOMED-CT 67 11093006
ICD10 32 D68.0
MESH via Orphanet 45 D014842
ICD10 via Orphanet 33 D68.0
UMLS via Orphanet 71 C0042974
Orphanet 58 ORPHA903
UMLS 70 C0042974
Sources

Summaries for Von Willebrand's Disease

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MedlinePlus Genetics : 43 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 Deamino Arginine Vasopressin and Vasopressins have been mentioned in the context of this disorder. Affiliated tissues include endothelial, bone marrow and heart, and related phenotypes are abnormal platelet function and abnormality of coagulation

Disease Ontology : 12 A blood coagulation 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.

GARD : 20 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 : 36 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 VWD involves the expression of functionally abnormal VWF (further subdivided into types 2A, 2B, 2M, and 2N); and type 3 VWD presents 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 : 62 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 : 73 Von Willebrand disease (VWD) is the most common hereditary blood-clotting disorder in humans. An... more...

GeneReviews: NBK7014
Sources

Related Diseases for Von Willebrand's Disease

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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 471)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 1 32.3 VWF SIGLEC5 GP1BA F8
2 von willebrand disease, type 2 32.0 VWF SIGLEC5 GP1BA F8 ADAMTS13
3 von willebrand disease, type 3 32.0 VWF SIGLEC5 GP1BA F8 ADAMTS13
4 hemophilia 31.5 F9 F8 F7
5 hemophilia a 31.0 VWF F9 F8 F7 F3
6 femoral neuropathy 30.7 PLAT F3 F2
7 angiodysplasia 30.5 VWF SIGLEC5 F8 F3 ADAMTS13
8 varicose veins 30.5 VWF PLAT F2
9 aortic valve insufficiency 30.4 VWF F3 F2
10 moyamoya disease 1 30.4 VWF PLAT F3 F2
11 platelet aggregation, spontaneous 30.4 VWF SELP PLAT PF4
12 thrombophilia due to thrombin defect 30.4 VWF PLAT PF4 F8 F3 F2
13 hemopericardium 30.4 F9 F3 F2
14 acquired hemophilia 30.3 F9 F8 F3 F11
15 thrombasthenia 30.3 SELP ITGA2B GP9 GP1BA F3 F2
16 active peptic ulcer disease 30.3 VWF F7 F3 F2
17 pseudo-von willebrand disease 30.3 VWF SIGLEC5 GP9 GP1BA
18 thrombotic thrombocytopenic purpura 30.2 VWF SELP PLAT F3 ADAMTSL1 ADAMTS13
19 arteriosclerosis 30.2 SELP ITGA2B GP1BA F3
20 patent foramen ovale 30.2 VWF PLAT F3 F2
21 pulmonary hypertension 30.2 VWF SELP PLAT F3 F2
22 atrial heart septal defect 30.2 PLAT F3 F2
23 central retinal vein occlusion 30.1 VWF PLAT F8 F3 F2
24 sickle cell anemia 30.1 VWF ITGA2B GP1BA F2
25 polycythemia vera 30.1 VWF SELP PF4 F2
26 fetal and neonatal alloimmune thrombocytopenia 30.1 ITGA2B GP1BA
27 intracranial embolism 30.1 VWF SELP PLAT F3 F2
28 purpura 30.1 VWF ITGA2B GP1BA F3 F2 ADAMTS13
29 carotid stenosis 30.0 VWF SELP F7
30 endocarditis 30.0 PPBP PLAT PF4 GP1BA F2
31 acquired hemophilia a 30.0 F9 F8 F3 F11
32 infective endocarditis 30.0 PPBP PF4 GP1BA F2
33 factor viii deficiency 29.9 VWF SIGLEC5 F9 F8 F7 F3
34 thrombocytosis 29.9 VWF SELP PPBP PF4 F3 F2
35 pulmonary embolism 29.9 VWF PLAT GP1BA F9 F8 F3
36 factor xiii deficiency 29.9 VWF F8 F7 F3 F2
37 factor xii deficiency 29.9 VWF F9 F7 F3 F11
38 afibrinogenemia, congenital 29.9 VWF PLAT F8 F7 F3 F2
39 thrombocytopenia due to platelet alloimmunization 29.9 SELP PF4 ITGA2B GP9 GP1BA
40 factor xi deficiency 29.8 VWF F9 F8 F7 F3 F2
41 respiratory failure 29.8 PPBP PF4 F3 F2
42 sickle cell disease 29.8 VWF SELP PPBP PF4 ADAMTSL1
43 thrombocytopenic purpura, autoimmune 29.8 SELP ITGA2B GP1BA F8 ADAMTS13
44 qualitative platelet defect 29.7 VWF PF4 F7 F3 F2
45 hemarthrosis 29.7 VWF F9 F8 F7 F3 F2
46 factor vii deficiency 29.7 F9 F8 F7 F3 F2
47 intermediate coronary syndrome 29.7 VWF SELP PLAT PF4 ITGA2B F3
48 thrombophlebitis 29.6 VWF PLAT F8 F7 F3 F2
49 hemolytic anemia 29.6 VWF F3 F2 ADAMTS13
50 acquired von willebrand syndrome 29.6 VWF GP1BA F8 F7 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
Sources

Symptoms & Phenotypes for Von Willebrand's Disease

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Human phenotypes related to Von Willebrand's Disease:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal platelet function 58 31 hallmark (90%) Very frequent (99-80%) HP:0011869
2 abnormality of coagulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001928
3 abnormal mitral valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001633
4 venous insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0005293
5 deviation of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004097
6 abnormality of thrombocytes 58 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 9.93 ADAMTS13 F11 F3 F8 F9 GP1BA
2 homeostasis/metabolism MP:0005376 9.8 ADAMTS13 CD63 F11 F2 F3 F7
3 immune system MP:0005387 9.4 ADAMTS13 CANX F11 F2 F3 F8
Sources

Drugs & Therapeutics for Von Willebrand's Disease

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PubMed Health treatment related to Von Willebrand's Disease: 62

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 bloodstream Replace von Willebrand factor Prevent the breakdown of blood clots Control heavy menstrual bleeding in women

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Deamino Arginine Vasopressin Phase 4
2 Vasopressins Phase 4
3 Arginine Vasopressin Phase 4
4 Coagulants Phase 4
5
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
6
Tranexamic Acid Approved Phase 3 1197-18-8 5526
7 Pharmaceutical Solutions Phase 3
8 Antifibrinolytic Agents Phase 3
9 Anesthetics Phase 3
10 Factor VIII Phase 3
11
Oprelvekin Approved, Investigational Phase 2 145941-26-0
12
Ticagrelor Approved 274693-27-5 9871419
13
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
14
Aspirin Approved, Vet_approved 50-78-2 2244
15
Sodium citrate Approved, Investigational 68-04-2
16
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
17 Hemostatics
18 Platelet Aggregation Inhibitors
19 Citrate

Interventional clinical trials:

(show top 50) (show all 73)
# 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 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
3 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
4 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
5 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
6 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
7 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
8 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
9 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
10 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
11 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
12 A PROSPECTIVE, PHASE 3, OPEN-LABEL, INTERNATIONAL MULTICENTER STUDY ON EFFICACY AND SAFETY OF PROPHYLAXIS WITH rVWF IN SEVERE VON WILLEBRAND DISEASE Completed NCT02973087 Phase 3
13 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
14 Prospective, Randomized, Crossover Trial Comparing Recombinant Von Willebrand Factor (rVWF) vs. Tranexamic Acid (TA) to Minimize Menorrhagia in Women With Von Willebrand Disease: The VWD Minimize Study Recruiting NCT02606045 Phase 3 recombinant von Willebrand factor;tranexamic acid
15 Clinical Study to Investigate the Efficacy and Safety of Wilate During Prophylaxis in Previously Treated Patients With Von Willebrand Disease (VWD) Recruiting NCT04052698 Phase 3 Wilate
16 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
17 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
18 Prospective, Randomized Trial Comparing Recombinant Von Willebrand Factor (rVWF) Plus Tranexamic Acid vs. rVWF Alone to Reduce Postpartum Hemorrhage in Women With Von Willebrand Disease: The VWD-WOMAN Trial Not yet recruiting NCT04344860 Phase 3 Recombinant Von Willebrand factor;Tranexamic Acid Injection [Cyklokapron]
19 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
20 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
21 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
22 Phase II Comparison Study of Hemostatic Efficacy of Escalating Doses of Interleukin-11 (rhIL-11, Neumega) in Subjects With Type 1 Von Willebrand Disease Completed NCT00151125 Phase 2 recombinant interleukin-11;recombinant interleukin-11;recombinant interleukin-11
23 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
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 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
26 A Phase 2a Multiple Dose Basket Study of the Safety, Tolerability, and Pharmacologic Activity of BT200 in Patients With Hereditary Bleeding Disorders Recruiting NCT04677803 Phase 2 BT200
27 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 Active, not recruiting NCT03613584 Phase 2 Von Willebrand Factor;Saline Solution
28 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)
29 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
30 Phase I Study of Human Von Willebrand Factor for Von Willebrand's Disease Completed NCT00004667 Phase 1 von Willebrand factor
31 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
32 A Phase 1, Open-Label Study to Assess the Pharmacokinetics, and Safety and Tolerability of a Single Intravenous Injection of rFVIIIFc-VWF-XTEN (BIVV001) in Adults With Type 2N and 3 Von Willebrand Disease (VWD) Not yet recruiting NCT04770935 Phase 1 efanesoctocog alfa (BIVV001)
33 Protocol for the Determination of Menstrual Blood Losses in Women Affected by Congenital Bleeding Disorders Unknown status NCT01261936
34 GLOBAL HEMOSTATIC METHODS IN HEMOPHILIA AND VON WILLEBRAND'S DISEASE CORRELATION WITH PATIENTS' CLINICAL STATUS AND USEFULNESS FOR TREATMENT MONITORING Unknown status NCT02061033
35 Is Gingival Bleeding a Symptom of Patients With Type 2 and 3 Von Willebrand Disease? A Case-Control Study Completed NCT03078595
36 Performance Evaluation of Von Willebrand:Collagen-Binding Assays to Diagnose Von Willebrand Factor Deficiency in Patients With Increased Risk of Bleeding Completed NCT02792205
37 Surveillance of Safety and Efficacy of Wilate in Patients With Von Willebrand Disease Completed NCT01602419
38 Prognostic Value of Implementing VCE on Top in Constitutional VWD-patients With GI-bleeding Completed NCT04466878
39 A Prospective, Multicenter, Non-Interventional Study Evaluating the Bleeding Incidence in Patients With Von Willebrand Disease Undergoing On-Demand Treatment Completed NCT04053699 VWF-containing products
40 Multicenter Retrospective Study From 5 Hemostasis Treatment Centers in Western France: Severe Hemorrhagic Treated Occurrences' Patterns and Global Substitutive COagulation Factors THerapy in the Inherited Von WILLebrand Disease Completed NCT03875924
41 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
42 The VWD International Prophylaxis (VIP) Study Completed NCT00557908 VWF/FVIII products
43 National Study of Moderate and Severe Von Willebrand Disease in the Netherlands Completed NCT00510042
44 Study on Von Willebrand Disease and Hemophilia in Cuenca, Ecuador Completed NCT01589848
45 International Post-Marketing Surveillance of Willfact-Wilfactin in Patients With Inherited Von Willebrand Disease. Completed NCT01949220
46 Clinical Performance Evaluation of T-TAS 01 PL Chip Completed NCT03621020
47 Open Label Continuation Study for the Use of Cyclokapron for Treatment and Management of Women With Bleeding Disorders Completed NCT00697385 Cyclokapron
48 Does an Acquired Von Willebrand Syndrome Influence Perioperative Blood Loss in Patients With Severe Aortic Stenosis Undergoing Aortic Valve Replacement? Completed NCT00805051
49 Treatment and Management of Women With Bleeding Disorders Completed NCT00111215 Tranexamic Acid;Desmopressin Acetate
50 Low Von Willebrand in Ireland Cohort Study Recruiting NCT03167320

Search NIH Clinical Center for Von Willebrand's Disease

Inferred drug relations via UMLS 70 / 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

Sources

Genetic Tests for Von Willebrand's Disease

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Genetic tests related to Von Willebrand's Disease:

# Genetic test Affiliating Genes
1 Von Willebrand Disorder 29
Sources

Anatomical Context for Von Willebrand's Disease

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

40
Endothelial, Bone Marrow, Heart, Whole Blood, Kidney, Liver, Thyroid
Sources

Publications for Von Willebrand's Disease

About this section

Articles related to Von Willebrand's Disease:

(show top 50) (show all 5006)
# Title Authors PMID Year
1
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. 6 25 61 54
18805962 2009
2
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture. 61 6 25
26986123 2016
3
Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype. 6 61 25
26207643 2015
4
Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients. 61 6 25
24675615 2014
5
Collagen binding provides a sensitive screen for variant von Willebrand disease. 6 25 61
23340442 2013
6
Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis. 25 61 6
21371195 2011
7
Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia. 6 61 25
20305138 2010
8
A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE. 61 6 25
20351307 2010
9
The genetic basis of von Willebrand disease. 61 6 25
20409624 2010
10
Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study. 6 25 61
19566550 2009
11
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. 6 25 61
19372260 2009
12
Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations. 6 25 61
18449422 2008
13
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. 61 6 25
17190853 2007
14
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). 25 6 61
16985174 2007
15
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. 61 25 6
17080221 2006
16
Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. 6 25 61
16889557 2006
17
Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis. 6 25 61
16322474 2006
18
Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations. 54 61 6
17681836 2007
19
Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13. 61 6 54
17087728 2007
20
Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide. 54 61 6
16953269 2006
21
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. 54 61 6
15461624 2004
22
Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. 6 54 61
7620154 1995
23
Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation. 61 54 6
8500791 1993
24
Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease. 54 61 6
1918030 1991
25
Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. 6 54 61
1832934 1991
26
Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction. 54 61 6
1906877 1991
27
Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). 6 61 54
1673047 1991
28
Genetic variants of VWF gene in type 2 von Willebrand disease. 61 6
30817071 2019
29
Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project. 61 6
29924855 2018
30
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients. 6 61
28971901 2017
31
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS. 61 6
26988807 2016
32
Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review. 6 61
26210168 2016
33
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease. 61 6
27532107 2016
34
Higher and lower active circulating VWF levels: different facets of von Willebrand disease. 6 61
26456374 2015
35
Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease. 6 61
25185554 2014
36
von Willebrand factor, Jedi knight of the bloodstream. 61 6
24928861 2014
37
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease. 61 6
24712919 2014
38
Similarity in joint and mucous bleeding syndromes in type 2N von Willebrand disease and severe hemophilia A coexisting with type 1 von Willebrand disease in two Chinese pedigrees. 61 6
24351655 2014
39
Analysis of the storage and secretion of von Willebrand factor in blood outgrowth endothelial cells derived from patients with von Willebrand disease. 6 61
23426949 2013
40
Mutations in the A3 domain of von Willebrand factor inducing combined qualitative and quantitative defects in the protein. 6 61
23335371 2013
41
A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy. 61 6
22875612 2013
42
Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments. 6 61
23110044 2012
43
Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease. 61 6
21534937 2011
44
Diagnosis and management of von Willebrand disease in a single institution of Argentina. 6 61
22102201 2011
45
An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease. 61 6
21393328 2011
46
Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor. 61 6
19687512 2009
47
Bleeding symptoms and laboratory correlation in patients with severe von Willebrand disease. 61 54 25
19473418 2009
48
von Willebrand Disease 6 61
20301765 2009
49
Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene. 6 61
19277422 2009
50
Genetic defects in von Willebrand disease type 3 in Indian and Greek patients. 6 61
18485763 2008
Sources

Variations for Von Willebrand's Disease

About this section

ClinVar genetic disease variations for Von Willebrand's Disease:

6 (show top 50) (show all 285)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VWF NM_000552.4(VWF):c.3445T>C (p.Cys1149Arg) SNV Pathogenic 309 rs61748511 GRCh37: 12:6131999-6131999
GRCh38: 12:6022833-6022833
2 VWF VWF, 8.6-KB DEL, EX4-5 Deletion Pathogenic 31008 GRCh37:
GRCh38:
3 VWF VWF, TRP1745CYS Variation Pathogenic 31010 GRCh37:
GRCh38:
4 VWF NM_000552.4(VWF):c.2279G>A (p.Arg760His) SNV Pathogenic 31011 rs61748467 GRCh37: 12:6155891-6155891
GRCh38: 12:6046725-6046725
5 VWF NM_000552.4(VWF):c.5347T>G (p.Ser1783Ala) SNV Pathogenic 31012 rs267607353 GRCh37: 12:6125363-6125363
GRCh38: 12:6016197-6016197
6 VWF NM_000552.4(VWF):c.3614G>A (p.Arg1205His) SNV Pathogenic 308 rs121964895 GRCh37: 12:6131126-6131126
GRCh38: 12:6021960-6021960
7 VWF NM_000552.4(VWF):c.3437A>G (p.Tyr1146Cys) SNV Pathogenic 31009 rs267607326 GRCh37: 12:6132007-6132007
GRCh38: 12:6022841-6022841
8 VWF NM_000552.4(VWF):c.4120C>T (p.Arg1374Cys) SNV Pathogenic 100329 rs61750071 GRCh37: 12:6128464-6128464
GRCh38: 12:6019298-6019298
9 VWF NM_000552.4(VWF):c.4883T>C (p.Ile1628Thr) SNV Pathogenic 284 rs61750584 GRCh37: 12:6127701-6127701
GRCh38: 12:6018535-6018535
10 VWF NM_000552.4(VWF):c.3614G>A (p.Arg1205His) SNV Pathogenic 308 rs121964895 GRCh37: 12:6131126-6131126
GRCh38: 12:6021960-6021960
11 VWF NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) SNV Pathogenic 288 rs61749384 GRCh37: 12:6128668-6128668
GRCh38: 12:6019502-6019502
12 VWF NM_000552.4(VWF):c.7360_7376del (p.Thr2454fs) Deletion Pathogenic 626938 rs1591838814 GRCh37: 12:6085338-6085354
GRCh38: 12:5976172-5976188
13 VWF NM_000552.4(VWF):c.2921G>A (p.Trp974Ter) SNV Pathogenic 627054 rs1591870340 GRCh37: 12:6138554-6138554
GRCh38: 12:6029388-6029388
14 VWF NM_000552.4(VWF):c.50dup (p.Leu17fs) Duplication Pathogenic 627085 rs751286556 GRCh37: 12:6232312-6232313
GRCh38: 12:6123146-6123147
15 VWF NM_000552.4(VWF):c.3437A>G (p.Tyr1146Cys) SNV Pathogenic 31009 rs267607326 GRCh37: 12:6132007-6132007
GRCh38: 12:6022841-6022841
16 VWF NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) SNV Pathogenic 288 rs61749384 GRCh37: 12:6128668-6128668
GRCh38: 12:6019502-6019502
17 VWF NM_000552.4(VWF):c.4790G>A (p.Arg1597Gln) SNV Pathogenic 100391 rs61750577 GRCh37: 12:6127794-6127794
GRCh38: 12:6018628-6018628
18 VWF NM_000552.4(VWF):c.5621-47_5842+51del Deletion Pathogenic 627514 rs1591857613 GRCh37: 12:6120732-6121343
GRCh38: 12:6011566-6012177
19 VWF NM_000552.4(VWF):c.221-10_532+52del Deletion Pathogenic 627516 rs1591924188 GRCh37: 12:6219488-6220144
GRCh38: 12:6110322-6110978
20 VWF NM_000552.4(VWF):c.2446C>T (p.Arg816Trp) SNV Pathogenic 295 rs121964894 GRCh37: 12:6145654-6145654
GRCh38: 12:6036488-6036488
21 VWF NM_000552.4(VWF):c.4121G>A (p.Arg1374His) SNV Pathogenic 100330 rs61750072 GRCh37: 12:6128463-6128463
GRCh38: 12:6019297-6019297
22 VWF NM_000552.4(VWF):c.4121G>A (p.Arg1374His) SNV Pathogenic 100330 rs61750072 GRCh37: 12:6128463-6128463
GRCh38: 12:6019297-6019297
23 VWF NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) SNV Pathogenic 285 rs61750117 GRCh37: 12:6127795-6127795
GRCh38: 12:6018629-6018629
24 VWF NM_000552.4(VWF):c.4121G>A (p.Arg1374His) SNV Pathogenic 100330 rs61750072 GRCh37: 12:6128463-6128463
GRCh38: 12:6019297-6019297
25 VWF NM_000552.4(VWF):c.3925A>G (p.Ile1309Val) SNV Pathogenic 100305 rs61749389 GRCh37: 12:6128659-6128659
GRCh38: 12:6019493-6019493
26 VWF NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys) SNV Pathogenic 289 rs61749387 GRCh37: 12:6128662-6128662
GRCh38: 12:6019496-6019496
27 VWF NM_000552.4(VWF):c.4135C>T (p.Arg1379Cys) SNV Pathogenic 100333 rs61750074 GRCh37: 12:6128449-6128449
GRCh38: 12:6019283-6019283
28 VWF NM_000552.4(VWF):c.3946G>A (p.Val1316Met) SNV Pathogenic 290 rs61749397 GRCh37: 12:6128638-6128638
GRCh38: 12:6019472-6019472
29 VWF NM_000552.4(VWF):c.3946G>A (p.Val1316Met) SNV Pathogenic 290 rs61749397 GRCh37: 12:6128638-6128638
GRCh38: 12:6019472-6019472
30 VWF NM_000552.5(VWF):c.532+2T>C SNV Pathogenic 1033095 GRCh37: 12:6219538-6219538
GRCh38: 12:6110372-6110372
31 VWF NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) SNV Pathogenic 296 rs41276738 GRCh37: 12:6143978-6143978
GRCh38: 12:6034812-6034812
32 VWF NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) SNV Pathogenic 296 rs41276738 GRCh37: 12:6143978-6143978
GRCh38: 12:6034812-6034812
33 VWF NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) SNV Pathogenic 296 rs41276738 GRCh37: 12:6143978-6143978
GRCh38: 12:6034812-6034812
34 VWF NM_000552.4(VWF):c.3797C>A (p.Pro1266Gln) SNV Pathogenic 100279 rs61749370 GRCh37: 12:6128787-6128787
GRCh38: 12:6019621-6019621
35 VWF NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) SNV Pathogenic 310 rs1800386 GRCh37: 12:6127833-6127833
GRCh38: 12:6018667-6018667
36 VWF NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) SNV Pathogenic 296 rs41276738 GRCh37: 12:6143978-6143978
GRCh38: 12:6034812-6034812
37 VWF NM_000552.4(VWF):c.7390C>T (p.Arg2464Cys) SNV Pathogenic 100467 rs61751286 GRCh37: 12:6085324-6085324
GRCh38: 12:5976158-5976158
38 VWF NM_000552.4(VWF):c.4975C>T (p.Arg1659Ter) SNV Pathogenic 297 rs61750595 GRCh37: 12:6127609-6127609
GRCh38: 12:6018443-6018443
39 VWF NM_000552.4(VWF):c.5557C>T (p.Arg1853Ter) SNV Pathogenic 298 rs61750612 GRCh37: 12:6122710-6122710
GRCh38: 12:6013544-6013544
40 VWF NM_000552.5(VWF):c.3794del (p.Pro1265fs) Deletion Pathogenic 1033092 GRCh37: 12:6128790-6128790
GRCh38: 12:6019624-6019624
41 VWF NM_000552.5(VWF):c.4024del (p.Arg1342fs) Deletion Pathogenic 1033093 GRCh37: 12:6128560-6128560
GRCh38: 12:6019394-6019394
42 VWF NM_000552.4(VWF):c.3379+1G>A SNV Pathogenic 100257 rs2363337 GRCh37: 12:6132796-6132796
GRCh38: 12:6023630-6023630
43 VWF NM_000552.4(VWF):c.5557C>T (p.Arg1853Ter) SNV Pathogenic 298 rs61750612 GRCh37: 12:6122710-6122710
GRCh38: 12:6013544-6013544
44 VWF NM_000552.4(VWF):c.2435del (p.Pro812fs) Deletion Pathogenic 303 rs62643632 GRCh37: 12:6153464-6153464
GRCh38: 12:6044298-6044298
45 VWF NM_000552.5(VWF):c.7770+1G>T SNV Pathogenic 931248 GRCh37: 12:6077292-6077292
GRCh38: 12:5968126-5968126
46 VWF NM_000552.4(VWF):c.3931C>T (p.Gln1311Ter) SNV Pathogenic 100307 rs267607337 GRCh37: 12:6128653-6128653
GRCh38: 12:6019487-6019487
47 VWF NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) SNV Pathogenic/Likely pathogenic 314 rs61749370 GRCh37: 12:6128787-6128787
GRCh38: 12:6019621-6019621
48 VWF NM_000552.4(VWF):c.1922C>T (p.Ala641Val) SNV Likely pathogenic 100196 rs61754019 GRCh37: 12:6166046-6166046
GRCh38: 12:6056880-6056880
49 VWF NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) SNV Likely pathogenic 314 rs61749370 GRCh37: 12:6128787-6128787
GRCh38: 12:6019621-6019621
50 VWF NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) SNV Likely pathogenic 381621 rs141649383 GRCh37: 12:6167119-6167119
GRCh38: 12:6057953-6057953
Sources

Expression for Von Willebrand's Disease

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

Pathways for Von Willebrand's Disease

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

36
# 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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Collagen chain trimerization 65
Show member pathways
 12.69 F9 F8 F7 F3 F2 F11
2
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 12.58 VWF SELP PPBP PLAT PF4 ITGA2B
3
ECM-receptor interaction 36
Show member pathways
 11.99 VWF ITGA2B GP9 GP1BA
4
Complement and coagulation cascades 36 1
11.92 VWF PLAT F9 F8 F7 F3
5
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 11.9 VWF PLAT PF4 GP9 GP1BA F9
6
Platelet activation 36
11.81 VWF ITGA2B GP9 GP1BA F2
7
Gamma carboxylation, hypusine formation and arylsulfatase activation 65
Show member pathways
 11.75 F9 F7 F2
8
Hematopoietic cell lineage 36
11.7 ITGA2B GP9 GP1BA
9
Integrin alphaIIb beta3 signaling 65
Show member pathways
 11.65 VWF ITGA2B GP9 GP1BA F2
10
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.41 VWF ITGA2B GP9 F2
11
amb2 Integrin signaling 1
11.37 SELP PLAT GP1BA
12
Warfarin Pathway, Pharmacodynamics 60
10.81 F9 F7 F2
13
Platelet Adhesion to exposed collagen 65
10.72 VWF GP9 GP1BA
14
GP1b-IX-V activation signalling 65
10.54 VWF GP9 GP1BA
Sources

GO Terms for Von Willebrand's Disease

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.25 SIGLEC5 SELP ITGA2B GP9 GP1BA F9
2 extracellular exosome GO:0070062 10.13 VWF PLAT ITGA2B GP1BA F9 F2
3 cell surface GO:0009986 9.88 PLAT ITGA2B GP1BA F3 CD63 ADAMTS13
4 extracellular matrix GO:0031012 9.8 VWF GP1BA ADAMTSL1 ADAMTS13
5 collagen-containing extracellular matrix GO:0062023 9.8 VWF PLAT PF4 F9 F7 F3
6 extracellular region GO:0005576 9.77 VWF PPBP PLAT PF4 F9 F8
7 endoplasmic reticulum lumen GO:0005788 9.7 F9 F8 F7 F2 CANX ADAMTSL1
8 Golgi lumen GO:0005796 9.69 F9 F7 F2
9 platelet alpha granule lumen GO:0031093 9.62 VWF PPBP PF4 F8
10 platelet alpha granule membrane GO:0031092 9.52 SELP ITGA2B
11 extracellular space GO:0005615 9.47 VWF SELP PPBP PLAT PF4 GP1BA
12 platelet dense granule membrane GO:0031088 9.46 SELP CD63
13 serine-type peptidase complex GO:1905286 9.37 F7 F3

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.98 VWF SIGLEC5 SELP ITGA2B GP9 GP1BA
2 proteolysis GO:0006508 9.95 PLAT F9 F7 F2 F11 ADAMTSL1
3 extracellular matrix organization GO:0030198 9.87 VWF ITGA2B ADAMTSL1 ADAMTS13
4 platelet degranulation GO:0002576 9.87 VWF SELP PPBP PF4 ITGA2B F8
5 ER to Golgi vesicle-mediated transport GO:0006888 9.81 F9 F8 F7 F2
6 platelet activation GO:0030168 9.8 VWF PF4 GP9 GP1BA F8 F2
7 cell-matrix adhesion GO:0007160 9.77 ITGA2B CD63 ADAMTS13
8 protein processing GO:0016485 9.72 F7 F3 ADAMTS13
9 antimicrobial humoral immune response mediated by antimicrobial peptide GO:0061844 9.71 PPBP PF4 F2
10 regulation of megakaryocyte differentiation GO:0045652 9.7 PF4 ITGA2B GP1BA
11 blood coagulation, intrinsic pathway GO:0007597 9.7 VWF GP9 GP1BA F9 F8 F2
12 hemostasis GO:0007599 9.65 VWF GP9 GP1BA F9 F8 F7
13 fibrinolysis GO:0042730 9.63 PLAT GP1BA F2
14 positive regulation of blood coagulation GO:0030194 9.6 F7 F2
15 positive regulation of leukocyte migration GO:0002687 9.58 SELP ITGA2B
16 positive regulation of positive chemotaxis GO:0050927 9.58 F7 F3
17 plasminogen activation GO:0031639 9.56 PLAT F11
18 regulation of blood coagulation GO:0030193 9.54 GP1BA F2 F11
19 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.49 F7 F3
20 blood coagulation, extrinsic pathway GO:0007598 9.48 F7 F3
21 blood coagulation GO:0007596 9.36 VWF PLAT GP9 GP1BA F9 F8

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.39 VWF SIGLEC5 SELP PPBP PLAT PF4
2 calcium ion binding GO:0005509 9.8 SELP F9 F7 F2 CANX ADAMTS13
3 peptidase activity GO:0008233 9.63 PLAT F9 F7 F2 F11 ADAMTS13
4 heparin binding GO:0008201 9.56 SELP PF4 F2 F11
5 endopeptidase activity GO:0004175 9.54 F9 F7 ADAMTS13
6 CXCR chemokine receptor binding GO:0045236 9.4 PPBP PF4
7 serine-type peptidase activity GO:0008236 9.35 PLAT F9 F7 F2 F11
8 serine-type endopeptidase activity GO:0004252 9.1 PLAT F9 F7 F3 F2 F11
Sources

Sources for Von Willebrand's Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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