Von Willebrand's Disease (VWD)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Von Willebrand's Disease

MalaCards integrated aliases for Von Willebrand's Disease:

Name: Von Willebrand's Disease 11 14
Von Willebrand Disease 11 24 19 42 58 75 53 2 14 63 71 31 33
Von Willebrand Disorder 11 42 28 5
Hereditary Von Willebrand Disease 19 58
Vascular Pseudohemophilia 11 42
Vwd 19 2
Factor Viii Deficiency with Vascular Defect 33
Minot-Von Willebrand-Jurgen Disease 33
Von Willebrand's Factor Deficiency 42
Von Willebrand's-Jurgens' Disease 11
Von Willebrand Factor, Deficiency 19
Von Willebrand Factor Deficiency 24
Willebrand Jurgen Thrombopathy 33
Von Willebrand-Jrgens Disease 11
Von Willebrand Diseases 43
Vascular Haemophilia 33
Vascular Hemophilia 11
Angiohaemophilia a 33
Angiohaemophilia B 33
Pseudohaemophilia 33
Angiohaemophilia 33
Angiohemophilia 42



Von Willebrand Disease: Autosomal dominant,Autosomal recessive 58


Von Willebrand Disease: 1-5/10000 (Worldwide) 58

Age Of Onset:

Von Willebrand Disease: All ages 58


Penetrance Type 1 vwd (ad)...


Orphanet: 58  
Rare haematological diseases

External Ids:

Disease Ontology 11 DOID:12531
ICD9CM 34 286.4
MeSH 43 D014842
NCIt 49 C68677
SNOMED-CT 68 11093006
ICD10 31 D68.0
MESH via Orphanet 44 D014842
ICD10 via Orphanet 32 D68.0
UMLS via Orphanet 72 C0042974
Orphanet 58 ORPHA903
ICD11 33 2112021600
UMLS 71 C0042974

Summaries for Von Willebrand's Disease

MedlinePlus Genetics: 42 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 2 and von willebrand disease, type 3. An important gene associated with Von Willebrand's Disease is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Disease and Response to elevated platelet cytosolic Ca2+. The drugs Arginine and Arginine Vasopressin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and skin, and related phenotypes are abnormal platelet function and abnormality of coagulation

PubMed Health : 63 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.

CDC: 2 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.

GARD: 19 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. 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 genetic changes in the VWF gene and can have different inheritance patterns.

Orphanet: 58 A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2).

Disease Ontology: 11 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.

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 573)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 2 32.6 VWF SIGLEC5 GP1BA F8 ADAMTS13
2 von willebrand disease, type 3 32.2 VWF SIGLEC5 GP6 GP1BA F8 ADAMTS13
3 von willebrand disease, type 1 32.1 VWF STXBP5 SIGLEC5 GP1BA F8 F3
4 hemophilia 31.9 VWF F9 F8 F2
5 hemophilia a 31.2 VWF F9 F8 F7 F5 F3
6 factor xi deficiency 31.0 VWF SERPINC1 F9 F8 F7 F5
7 angiodysplasia 30.9 VWF SIGLEC5 F8 F3 F2 ADAMTS13
8 hypothyroidism 30.9 VWF F8 F3 F2
9 atherosclerosis susceptibility 30.7 VWF SELP PLAT F3
10 factor viii deficiency 30.7 VWF SIGLEC5 SERPINC1 F9 F8 F7
11 femoral neuropathy 30.6 PLAT F3 F2
12 thrombasthenia 30.5 SELP ITGA2B GP1BA F5 F3 F2
13 arteriovenous malformation 30.5 VWF PLAT F3 F2
14 active peptic ulcer disease 30.5 VWF F7 F3 F2
15 qualitative platelet defect 30.4 VWF SELP ITGA2B GP1BA F7 F3
16 aortic valve insufficiency 30.4 VWF F3 F2
17 polycythemia 30.3 F5 F3 F2
18 thrombocytopenia due to platelet alloimmunization 30.3 VWF SELP ITGA2B GP1BA F3 ADAMTS13
19 severe covid-19 30.3 VWF SIGLEC5 F3 F2
20 heart valve disease 30.2 VWF F3 F2
21 essential thrombocythemia 30.2 VWF SELP PLAT ITGA2B IL11 GP1BA
22 carotid stenosis 30.2 VWF SELP F7
23 platelet aggregation, spontaneous 30.2 VWF SERPINC1 SELP PLAT
24 sickle cell anemia 30.1 VWF SERPINC1 SELP F3 F2
25 endocarditis 30.1 SERPINC1 PLAT GP1BA F2
26 heart septal defect 30.1 SERPINC1 F3 F2
27 eclampsia 30.0 SERPINC1 F3 F2
28 thrombotic thrombocytopenic purpura 30.0 VWF SERPINC1 SELP GP1BA F8 F3
29 hypersplenism 30.0 SERPINC1 F3 F2
30 hemolytic uremic syndrome, atypical 1 29.9 VWF SELP F3 F2 ADAMTS13
31 moyamoya disease 1 29.9 VWF SERPINC1 PLAT F3 F2
32 liver cirrhosis 29.9 SERPINC1 F3 F2 ADAMTS13
33 pseudo-von willebrand disease 29.9 VWF SIGLEC5 GP6 GP1BB GP1BA F8
34 intermediate coronary syndrome 29.9 VWF SERPINC1 SELP ITGA2B F3
35 varicose veins 29.8 VWF SERPINC1 PLAT F5 F2
36 antithrombin iii deficiency 29.8 SERPINC1 F5 F3 F2
37 dysfibrinogenemia, congenital 29.8 SERPINC1 PLAT F5 F2
38 purpura 29.8 VWF SERPINC1 SELP ITGA2B GP1BA F3
39 transient cerebral ischemia 29.8 VWF SERPINC1 PLAT F3 F2
40 fetal and neonatal alloimmune thrombocytopenia 29.8 ITGA2B GP1BB GP1BA
41 atrial fibrillation 29.8 VWF SELP PLAT F9 F3 F2
42 atrial heart septal defect 29.8 VWF SERPINC1 PLAT F3 F2
43 arteriosclerosis 29.7 SERPINC1 SELP ITGA2B GP1BA F3 CD63
44 retinal vein occlusion 29.7 VWF SERPINC1 F5 F3 F2
45 infective endocarditis 29.7 VWF SIGLEC5 ITGA2B GP1BA F3 F2
46 central retinal vein occlusion 29.7 SERPINC1 PLAT F5 F3 F2
47 severe pre-eclampsia 29.7 SERPINC1 F5 F3 F2 ADAMTS13
48 thrombocytosis 29.7 VWF SERPINC1 SELP IL11 F3 F2
49 hemarthrosis 29.7 VWF SERPINC1 F9 F8 F7 F3
50 placental abruption 29.6 SERPINC1 F7 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:

58 30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal platelet function 58 30 Hallmark (90%) Very frequent (99-80%)
2 abnormality of coagulation 58 30 Hallmark (90%) Very frequent (99-80%)
3 abnormal mitral valve morphology 58 30 Frequent (33%) Frequent (79-30%)
4 venous insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
5 deviation of finger 58 30 Occasional (7.5%) Occasional (29-5%)
6 abnormality of thrombocytes 58 Very frequent (99-80%)

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

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 ADAMTS13 CD63 F11 F2 F3 F5
2 no effect GR00402-S-2 10.19 ADAMTS13 CD63 F2 F3 F5 F7

MGI Mouse Phenotypes related to Von Willebrand's Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ADAMTS13 CD63 F11 F2 F3 F5
2 cardiovascular system MP:0005385 10 F11 F2 F3 F5 F7 F9
3 immune system MP:0005387 9.97 ADAMTS13 F11 F2 F3 F8 F9
4 hematopoietic system MP:0005397 9.83 ADAMTS13 F11 F2 F3 F8 F9
5 mortality/aging MP:0010768 9.5 ADAMTS13 F11 F2 F3 F5 F7

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 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
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
2 Arginine Vasopressin Phase 4
3 Vasopressins Phase 4
4 Coagulants Phase 4
Tranexamic acid Approved Phase 3 1197-18-8 5526
6 Pharmaceutical Solutions Phase 3
7 Anesthetics Phase 3
8 Hemostatics Phase 3
9 Antifibrinolytic Agents Phase 3
Oprelvekin Approved, Investigational Phase 2 145941-26-0
Acetylsalicylic acid Approved, Vet_approved 50-78-2 2244
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
Ticagrelor Approved 274693-27-5 9871419
Sodium citrate Approved, Investigational 68-04-2 23431961
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
16 Platelet Aggregation Inhibitors
17 Deamino Arginine Vasopressin
18 Factor VIII
19 Citrate

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
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 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
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 Observational Study to Assess the Efficacy and Safety of the FVIII/VWF Complex (Human), Alphanate®, in Preventing Excessive Bleeding During Surgery in Subjects With Congenital Type 3 Von Willebrand Disease Active, not recruiting NCT00555555 Phase 4
7 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
8 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
9 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
10 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
11 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
12 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
13 Clinical Study to Investigate the Efficacy and Safety of Wilate During Prophylaxis in Previously Treated Patients With Von Willebrand Disease (VWD) Completed NCT04052698 Phase 3 Wilate
14 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
15 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
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 Clinical Study to Investigate the Efficacy, Pharmacokinetics, Immunogenicity and Safety of Wilate in Severe Von Willebrand Disease Patients Under the Age of 6 Years Recruiting NCT04953884 Phase 3 wilate
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 Recruiting NCT04344860 Phase 3 Recombinant Von Willebrand factor;Tranexamic Acid Injection [Cyklokapron]
19 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 Active, not recruiting NCT02606045 Phase 3 recombinant von Willebrand factor;tranexamic acid
20 A Phase 3, Prospective, Open-label, Uncontrolled, Multicenter Study on Efficacy and Safety of Prophylaxis With rVWF in Children Diagnosed With Severe Von Willebrand Disease Not yet recruiting NCT05582993 Phase 3
21 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
22 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
23 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 Unknown status NCT03613584 Phase 2 Von Willebrand Factor;Saline Solution
24 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
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 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
27 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
28 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
29 A Phase 2a Multiple Dose Basket Study of the Safety, Tolerability, and Pharmacologic Activity of BT200 in Patients With Hereditary Bleeding Disorders Completed NCT04677803 Phase 2 BT200
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
32 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
33 Phase I Study of Human Von Willebrand Factor for Von Willebrand's Disease Completed NCT00004667 Phase 1 von Willebrand factor
34 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) Recruiting NCT04770935 Phase 1 efanesoctocog alfa (BIVV001)
35 Emicizumab for Severe VON Willebrand Disease (VWD) and VWD/Hemophilia A Not yet recruiting NCT05500807 Phase 1 Emicizumab
36 Assessing the Bleeding Severity in Type I Von Willebrand Patients Using the International Society on Thrombosis and Hemostasis Bleeding Assessment Tool ( ISTH-BAT) Questionnaire Unknown status NCT03915873
37 Latin-American Von Willebrand Disease Registry Unknown status NCT04279717
38 Von Willebrand Disease in the Netherlands - Prospective Study (WiN-Pro) Unknown status NCT03521583
39 Protocol for the Determination of Menstrual Blood Losses in Women Affected by Congenital Bleeding Disorders Unknown status NCT01261936
40 Molecular and Clinical Profile of Von Willebrand Disease (VWD) in Spain (PCM-EVW-ES). Recruitment Extension, Further Data Analysis, Improvement of Registry Platform, Diagnosis and Management of VWD Application Development Unknown status NCT02869074
41 A Study of Factor Inhibitors in Adult Patients With Hemophilia and Von Willebrand's Disease in Upper Egypt Unknown status NCT04106323
43 Low Von Willebrand in Ireland Cohort Study Unknown status NCT03167320
44 Von Willebrand Antigen and Activity as Novel Biomarkers of Hemostasis in Inflammatory Bowel Disease Unknown status NCT03715673
45 International Post-Marketing Surveillance of Willfact-Wilfactin in Patients With Inherited Von Willebrand Disease. Completed NCT01949220
46 Performance Evaluation of Von Willebrand:Collagen-Binding Assays to Diagnose Von Willebrand Factor Deficiency in Patients With Increased Risk of Bleeding Completed NCT02792205
47 Does an Acquired Von Willebrand Syndrome Influence Perioperative Blood Loss in Patients With Severe Aortic Stenosis Undergoing Aortic Valve Replacement? Completed NCT00805051
48 National Study of Moderate and Severe Von Willebrand Disease in the Netherlands Completed NCT00510042
49 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
50 The VWD International Prophylaxis (VIP) Study Completed NCT00557908 VWF/FVIII products

Search NIH Clinical Center for Von Willebrand's Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :

antihemophilic factor, human
Antihemophilic Factor, Human Recombinant
Antihemophilic factor, porcine
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 28 VWF

Anatomical Context for Von Willebrand's Disease

Organs/tissues related to Von Willebrand's Disease:

MalaCards : Bone Marrow, Bone, Skin, Whole Blood, Endothelial, Liver, Heart

Publications for Von Willebrand's Disease

Articles related to Von Willebrand's Disease:

(show top 50) (show all 5390)
# Title Authors PMID Year
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. 53 62 24 5
18805962 2009
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture. 62 24 5
26986123 2016
Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients. 62 24 5
24675615 2014
The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles. 62 24 5
23311757 2013
Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis. 62 24 5
21371195 2011
Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia. 62 24 5
20305138 2010
A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE. 62 24 5
20351307 2010
The genetic basis of von Willebrand disease. 62 24 5
20409624 2010
Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study. 62 24 5
19566550 2009
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. 62 24 5
19372260 2009
Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations. 62 24 5
18449422 2008
Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. 62 24 5
18230755 2008
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. 62 24 5
17190853 2007
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). 62 24 5
16985174 2007
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. 62 24 5
17080221 2006
Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis. 62 24 5
16322474 2006
Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. 62 24 5
12649144 2003
Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene. 53 62 5
19506361 2009
Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations. 53 62 5
17681836 2007
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. 53 62 5
16953269 2006
The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype. 53 62 5
15755288 2005
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. 53 62 5
15461624 2004
Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation. 53 62 5
8500791 1993
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. 53 62 5
1918030 1991
Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. 53 62 5
1832934 1991
Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction. 53 62 5
1906877 1991
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). 53 62 5
1673047 1991
Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease. 62 5
35505650 2022
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing. 62 5
33807613 2021
Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms. 62 5
32609846 2020
Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study. 62 5
30722078 2019
Genetic variants of VWF gene in type 2 von Willebrand disease. 62 5
30817071 2019
Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients. 62 5
31249928 2018
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients. 62 5
28971901 2017
Haemostatic patterns and bleeding scores of a genetically characterised Italian family with combined haemophilia A and type 1 von Willebrand disease. 62 5
27380589 2017
Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue. 62 5
28640903 2017
von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients. 62 5
27785872 2016
Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF. 62 5
27533707 2016
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS. 62 5
26988807 2016
Rapid discrimination of the phenotypic variants of von Willebrand disease. 62 5
26917779 2016
Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review. 62 5
26210168 2016
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease. 62 5
27532107 2016
Higher and lower active circulating VWF levels: different facets of von Willebrand disease. 62 5
26456374 2015
von Willebrand factor arginine 1205 substitution results in accelerated macrophage-dependent clearance in vivo. 62 5
25690668 2015
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease. 62 5
24712919 2014
von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor. 62 5
24598842 2014
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. 62 5
24351655 2014
No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation. 62 5
23520336 2013
Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells. 62 5
23355534 2013
Analysis of the storage and secretion of von Willebrand factor in blood outgrowth endothelial cells derived from patients with von Willebrand disease. 62 5
23426949 2013

Variations for Von Willebrand's Disease

ClinVar genetic disease variations for Von Willebrand's Disease:

5 (show top 50) (show all 266)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VWF NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) SNV Pathogenic
100305 rs61749389 GRCh37: 12:6128659-6128659
GRCh38: 12:6019493-6019493
2 VWF NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) SNV Pathogenic
284 rs61750584 GRCh37: 12:6127701-6127701
GRCh38: 12:6018535-6018535
3 VWF NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs) DEL Pathogenic
626938 rs1591838814 GRCh37: 12:6085338-6085354
GRCh38: 12:5976172-5976188
4 VWF NM_000552.5(VWF):c.2921G>A (p.Trp974Ter) SNV Pathogenic
627054 rs1591870340 GRCh37: 12:6138554-6138554
GRCh38: 12:6029388-6029388
5 VWF NM_000552.5(VWF):c.50dup (p.Leu17fs) DUP Pathogenic
627085 rs751286556 GRCh37: 12:6232312-6232313
GRCh38: 12:6123146-6123147
6 VWF NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln) SNV Pathogenic
100391 rs61750577 GRCh37: 12:6127794-6127794
GRCh38: 12:6018628-6018628
7 VWF NM_000552.5(VWF):c.5621-47_5842+51del DEL Pathogenic
627514 rs1591857613 GRCh37: 12:6120732-6121343
GRCh38: 12:6011566-6012177
8 VWF NM_000552.5(VWF):c.221-10_532+52del DEL Pathogenic
627516 rs1591924188 GRCh37: 12:6219488-6220144
GRCh38: 12:6110322-6110978
9 VWF NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) SNV Pathogenic
439338 rs61750081 GRCh37: 12:6128337-6128337
GRCh38: 12:6019171-6019171
10 VWF NM_000552.5(VWF):c.5621-50_5842+50del DEL Pathogenic
1333001 GRCh37: 12:6120733-6121346
GRCh38: 12:6011567-6012180
11 VWF DEL Pathogenic
1333002 GRCh37: 12:6105118-6131251
12 VWF NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe) SNV Pathogenic
100376 rs267607344 GRCh37: 12:6127956-6127956
GRCh38: 12:6018790-6018790
13 VWF NM_000552.5(VWF):c.7437G>A (p.Ser2479=) SNV Pathogenic
100473 rs267607363 GRCh37: 12:6085277-6085277
GRCh38: 12:5976111-5976111
14 VWF NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) SNV Pathogenic
31009 rs267607326 GRCh37: 12:6132007-6132007
GRCh38: 12:6022841-6022841
15 VWF NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) SNV Pathogenic
100329 rs61750071 GRCh37: 12:6128464-6128464
GRCh38: 12:6019298-6019298
16 VWF NC_000012.11:g.(6204751_6219539)_(6220135_6230339)del DEL Pathogenic
1696149 GRCh37: 12:6204751-6230339
17 VWF NC_000012.11:g.(6105389_6120782)_(6121297_6122646)del DEL Pathogenic
1704506 GRCh37: 12:6105389-6122646
18 VWF NM_000552.5(VWF):c.3614G>A (p.Arg1205His) SNV Pathogenic
308 rs121964895 GRCh37: 12:6131126-6131126
GRCh38: 12:6021960-6021960
19 VWF NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) SNV Pathogenic
295 rs121964894 GRCh37: 12:6145654-6145654
GRCh38: 12:6036488-6036488
20 VWF NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) SNV Pathogenic
100333 rs61750074 GRCh37: 12:6128449-6128449
GRCh38: 12:6019283-6019283
21 VWF NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) SNV Pathogenic
296 rs41276738 GRCh37: 12:6143978-6143978
GRCh38: 12:6034812-6034812
22 VWF NM_000552.5(VWF):c.3946G>A (p.Val1316Met) SNV Pathogenic
290 rs61749397 GRCh37: 12:6128638-6128638
GRCh38: 12:6019472-6019472
23 VWF NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) SNV Pathogenic
288 rs61749384 GRCh37: 12:6128668-6128668
GRCh38: 12:6019502-6019502
24 VWF NM_000552.5(VWF):c.3379+1G>A SNV Pathogenic
100257 rs2363337 GRCh37: 12:6132796-6132796
GRCh38: 12:6023630-6023630
25 VWF NM_000552.5(VWF):c.2435del (p.Pro812fs) DEL Pathogenic
303 rs62643632 GRCh37: 12:6153464-6153464
GRCh38: 12:6044298-6044298
26 VWF NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) SNV Pathogenic
289 rs61749387 GRCh37: 12:6128662-6128662
GRCh38: 12:6019496-6019496
27 VWF NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) SNV Pathogenic
298 rs61750612 GRCh37: 12:6122710-6122710
GRCh38: 12:6013544-6013544
28 VWF NM_000552.5(VWF):c.4121G>A (p.Arg1374His) SNV Pathogenic
100330 rs61750072 GRCh37: 12:6128463-6128463
GRCh38: 12:6019297-6019297
29 VWF NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) SNV Pathogenic
285 rs61750117 GRCh37: 12:6127795-6127795
GRCh38: 12:6018629-6018629
30 VWF NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) SNV Pathogenic
100307 rs267607337 GRCh37: 12:6128653-6128653
GRCh38: 12:6019487-6019487
31 VWF NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) SNV Pathogenic
297 rs61750595 GRCh37: 12:6127609-6127609
GRCh38: 12:6018443-6018443
32 VWF NM_000552.5(VWF):c.4196G>A (p.Arg1399His) SNV Pathogenic
293 rs1800382 GRCh37: 12:6128388-6128388
GRCh38: 12:6019222-6019222
33 VWF NM_000552.5(VWF):c.970C>T (p.Arg324Ter) SNV Pathogenic
100512 rs61754000 GRCh37: 12:6182812-6182812
GRCh38: 12:6073646-6073646
34 VWF NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) MICROSAT Pathogenic
100340 rs61750078 GRCh37: 12:6128360-6128362
GRCh38: 12:6019194-6019196
35 VWF NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) SNV Pathogenic/Likely Pathogenic
100279 rs61749370 GRCh37: 12:6128787-6128787
GRCh38: 12:6019621-6019621
36 VWF NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) SNV Pathogenic/Likely Pathogenic
314 rs61749370 GRCh37: 12:6128787-6128787
GRCh38: 12:6019621-6019621
37 VWF NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) SNV Pathogenic/Likely Pathogenic
100467 rs61751286 GRCh37: 12:6085324-6085324
GRCh38: 12:5976158-5976158
38 VWF NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) SNV Likely Pathogenic
100256 rs267607321 GRCh37: 12:6132817-6132817
GRCh38: 12:6023651-6023651
39 VWF NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) SNV Likely Pathogenic
100369 rs61750100 GRCh37: 12:6128067-6128067
GRCh38: 12:6018901-6018901
40 VWF NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) SNV Likely Pathogenic
100294 rs267607334 GRCh37: 12:6128721-6128721
GRCh38: 12:6019555-6019555
41 VWF NM_000552.5(VWF):c.1607T>C (p.Leu536Pro) SNV Likely Pathogenic
627250 rs1591890769 GRCh37: 12:6167137-6167137
GRCh38: 12:6057971-6057971
42 VWF NC_000012.11:g.(6105389_6120782)_(6233842_?)del DEL Likely Pathogenic
1696148 GRCh37: 12:6105389-6233842
43 VWF NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) SNV Likely Pathogenic
100331 rs61750072 GRCh37: 12:6128463-6128463
GRCh38: 12:6019297-6019297
44 VWF NM_000552.5(VWF):c.5801T>G (p.Val1934Gly) SNV Likely Pathogenic
627336 rs139845585 GRCh37: 12:6120824-6120824
GRCh38: 12:6011658-6011658
45 VWF NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) SNV Likely Pathogenic
100310 rs61749395 GRCh37: 12:6128641-6128641
GRCh38: 12:6019475-6019475
46 VWF NM_000552.5(VWF):c.1922C>T (p.Ala641Val) SNV Likely Pathogenic
100196 rs61754019 GRCh37: 12:6166046-6166046
GRCh38: 12:6056880-6056880
47 VWF NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp) SNV Likely Pathogenic
627127 rs369669154 GRCh37: 12:6080820-6080820
GRCh38: 12:5971654-5971654
48 VWF NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) SNV Likely Pathogenic
381621 rs141649383 GRCh37: 12:6167119-6167119
GRCh38: 12:6057953-6057953
49 VWF NM_000552.5(VWF):c.421G>A (p.Asp141Asn) SNV Likely Pathogenic
100338 rs61753992 GRCh37: 12:6219651-6219651
GRCh38: 12:6110485-6110485
50 VWF NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) DEL Likely Pathogenic
100372 rs267607340 GRCh37: 12:6127972-6127980
GRCh38: 12:6018806-6018814

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 GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
12.56 F11 F2 F3 F5 F7 F8
Show member pathways
5 11.75 ITGA2B IL11 GP1BA
Show member pathways
Show member pathways
11.74 F9 F8 F7 F2
8 11.26 VWF ITGA2B GP6 GP1BB F2
9 11.2 ITGA2B F3 F2
Show member pathways
11.13 F9 F7 F2
Show member pathways
Show member pathways
10.56 F9 F8

GO Terms for Von Willebrand's Disease

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005887 10.77 CD63 F3 GP1BA GP1BB GP6 SELP
2 plasma membrane GO:0005886 10.77 CD63 F11 F2 F3 F5 F7
3 extracellular region GO:0005576 10.32 ADAMTS13 CD63 F11 F2 F3 F5
4 cell surface GO:0009986 10.28 PLAT ITGA2B GP6 GP1BA F3 CD63
5 Golgi lumen GO:0005796 10.01 F2 F7 F8 F9
6 collagen-containing extracellular matrix GO:0062023 9.97 VWF SERPINC1 PLAT F9 F7 F3
7 serine-type endopeptidase complex GO:1905370 9.8 F9 F7 F2
8 endoplasmic reticulum lumen GO:0005788 9.8 ADAMTS13 F2 F5 F7 F8 F9
9 extracellular space GO:0005615 9.8 VWF SERPINC1 SELP PLAT IL11 GP1BA
10 platelet dense granule membrane GO:0031088 9.78 SELP CD63
11 glycoprotein Ib-IX-V complex GO:1990779 9.76 GP1BA GP1BB
12 serine-type peptidase complex GO:1905286 9.67 F7 F3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.25 VWF SIGLEC5 SELP ITGA2B GP1BB GP1BA
2 proteolysis GO:0006508 10.19 PLAT F9 F7 F2 F11 ADAMTS13
3 blood coagulation GO:0007596 10.05 ADAMTS13 F11 F2 F3 F5 F7
4 platelet activation GO:0030168 10.03 ADAMTS13 F2 GP1BA GP1BB GP6 VWF
5 fibrinolysis GO:0042730 9.91 F2 GP1BA PLAT
6 positive regulation of platelet activation GO:0010572 9.88 SELP GP1BB GP1BA
7 blood coagulation, intrinsic pathway GO:0007597 9.85 GP1BB GP1BA F8
8 regulation of blood coagulation GO:0030193 9.8 SERPINC1 GP1BA F2 F11
9 response to vitamin K GO:0032571 9.78 F7 F5
10 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.76 F7 F3
11 regulation of body fluid levels GO:0050878 9.55 F9 F8 F7 F5 F2
12 hemostasis GO:0007599 9.47 ADAMTS13 F11 F2 F3 F5 F7

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.86 SERPINC1 SELP F2 F11
2 peptidase activity GO:0008233 9.63 PLAT F9 F7 F2 F11 ADAMTS13
3 serine-type peptidase activity GO:0008236 9.43 PLAT F9 F7 F2 F11
4 serine-type endopeptidase activity GO:0004252 9.4 PLAT F9 F7 F3 F2 F11

Sources for Von Willebrand's Disease

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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