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MCID: VNW001
MIFTS: 62

Von Willebrand's Disease

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 77 25 54 26 60 38 56 3 15 64 41 74
Von Willebrand Disorder 12 26 30 6
Vascular Pseudohemophilia 12 26
Vwd 54 3
Von Willebrand's Factor Deficiency 26
Von Willebrand's-Jurgens' Disease 12
Von Willebrand Factor, Deficiency 54
Hereditary Von Willebrand Disease 60
Von Willebrand-Jrgens Disease 12
Von Willebrand Diseases 45
Vascular Hemophilia 12
Angiohemophilia 26

Characteristics:

Orphanet epidemiological data:

60
von willebrand disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases Cardiovascular diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:12531
KEGG 38 H02092
ICD9CM 36 286.4
MeSH 45 D014842
NCIt 51 C68677
SNOMED-CT 69 11093006
ICD10 34 D68.0 D69.8
MESH via Orphanet 46 D014842
ICD10 via Orphanet 35 D68.0
UMLS via Orphanet 75 C0042974
Orphanet 60 ORPHA903
UMLS 74 C0042974
Sources

Summaries for Von Willebrand's Disease

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PubMed Health : 64 About von willebrand disease: Von Willebrand disease (VWD) is a bleeding disorder. It affects your blood's ability to clot. If your blood doesn't clot, you can have heavy, hard-to-stop bleeding after an injury. The bleeding can damage your internal organs. Rarely, the bleeding may even cause death.In VWD, you either have low levels of a certain protein in your blood or the protein doesn't work well. The protein is called von Willebrand factor, and it helps your blood clot.Normally, when one of your blood vessels is injured, you start to bleed. Small blood cell fragments called platelets (PLATE-lets) clump together to plug the hole in the blood vessel and stop the bleeding. Von Willebrand factor acts like glue to help the platelets stick together and form a blood clot.Von Willebrand factor also carries clotting factor VIII (8), another important protein that helps your blood clot. Factor VIII is the protein that's missing or doesn't work well in people who have hemophilia, another bleeding disorder.VWD is more common and usually milder than hemophilia. In fact, VWD is the most common inherited bleeding disorder. It occurs in about 1 out of every 100 to 1,000 people. VWD affects both males and females, while hemophilia mainly affects males.

MalaCards based summary : Von Willebrand's Disease, also known as von willebrand disease, is related to pseudo-von willebrand disease and von willebrand disease, type 1. An important gene associated with Von Willebrand's Disease is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Complement and coagulation cascades and Platelet activation. The drugs Factor VIII and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include testes, endothelial and whole blood, 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.

Genetics Home Reference : 26 Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. Mild forms of von Willebrand disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Women with this condition typically have heavy or prolonged bleeding during menstruation (menorrhagia), and some may also experience reproductive tract bleeding during pregnancy and childbirth. In severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Symptoms of von Willebrand disease may change over time. Increased age, pregnancy, exercise, and stress may cause bleeding symptoms to become less frequent.

NIH Rare Diseases : 54 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 Types, signs, diagnosis, treatment, and inheritance.

Wikipedia : 77 Von Willebrand disease (vWD) is the most common hereditary blood-clotting disorder in humans. An... more...

GeneReviews:
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 272)
# Related Disease Score Top Affiliating Genes
1 pseudo-von willebrand disease 35.0 GP1BA VWF
2 von willebrand disease, type 1 33.3 F2 F3 F8 VWF
3 von willebrand disease, type 2 33.1 ADAMTS13 F3 F8 GP1BA VWF
4 von willebrand disease, type 3 32.1 ANO2 F11 F3 F8 GP1BA VWF
5 acquired von willebrand syndrome 32.0 F11 F8 F9 GP1BA VWF
6 thrombocytopenia 31.1 ADAMTS13 F3 GP1BA
7 hemophilia 30.7 F2 F3 F8 F9 VWF
8 platelet aggregation, spontaneous 30.5 SELP VWF
9 bernard-soulier syndrome 30.4 F2 F8 GP1BA VWF
10 femoral neuropathy 30.3 F2 F3
11 acute myocardial infarction 30.3 F3 SELP VWF
12 afibrinogenemia, congenital 30.1 F2 F3 VWF
13 arteries, anomalies of 30.1 F3 SELP VWF
14 factor xii deficiency 30.0 F3 F5 F9
15 antithrombin iii deficiency 30.0 F2 F5
16 central retinal vein occlusion 30.0 F2 F5
17 retinal vein occlusion 30.0 F2 F5
18 hemarthrosis 30.0 F8 F9 VWF
19 factor xiii deficiency 30.0 F3 F5 F8
20 thrombocytosis 29.9 F2 F3 SELP
21 essential thrombocythemia 29.9 F2 F3 GP1BA SELP VWF
22 dysfibrinogenemia 29.9 F2 F5
23 factor viii deficiency 29.8 F11 F2 F5 F8 VWF
24 thrombasthenia 29.8 F2 F3 F5 GP1BA SELP
25 purpura 29.8 ADAMTS13 F2 F3 VWF
26 infective endocarditis 29.8 F2 GP1BA
27 factor vii deficiency 29.8 F2 F3 F8 F9
28 varicose veins 29.7 F2 F5 VWF
29 thrombophilia due to thrombin defect 29.7 F2 F3 F5 F8 VWF
30 factor xi deficiency 29.7 F11 F2 F3 F9
31 coronary artery anomaly 29.7 F2 F5 SELP
32 thrombotic thrombocytopenic purpura 29.6 ADAMTS13 F3 SELP VWF
33 qualitative platelet defect 29.6 F2 F3 SELP VWF
34 hemophilia a 29.5 F11 F3 F5 F8 F9 VWF
35 pulmonary embolism 29.4 F2 F3 F5 F9 VWF
36 heart disease 29.4 F2 F3 F8 SELP VWF
37 hemophilia b 29.4 F11 F2 F3 F8 F9
38 glanzmann thrombasthenia 29.1 F2 F3 F8 F9 GP1BA SELP
39 disseminated intravascular coagulation 29.1 ADAMTS13 F2 F3 F5 F9
40 pre-eclampsia 29.0 F2 F3 F5 SELP VWF
41 acquired hemophilia 28.8 F11 F3 F5 F8 F9
42 blood platelet disease 28.8 ADAMTS13 F2 F3 F8 GP1BA SELP
43 acquired hemophilia a 28.7 F11 F3 F5 F8 F9
44 afibrinogenemia 28.6 F11 F2 F3 F5 F8 VWF
45 thrombosis 28.4 ADAMTS13 F2 F3 F5 F8 F9
46 myocardial infarction 27.8 ADAMTS13 F11 F2 F3 F5 F8
47 hemorrhagic disease 27.6 ADAMTS13 F11 F2 F3 F5 F8
48 von willebrand disease, x-linked form 12.4
49 angiodysplasia 10.7
50 hypothyroidism 10.5

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:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal platelet function 60 33 hallmark (90%) Very frequent (99-80%) HP:0011869
2 abnormality of coagulation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001928
3 abnormal mitral valve morphology 60 33 frequent (33%) Frequent (79-30%) HP:0001633
4 venous insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0005293
5 deviation of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004097
6 abnormality of thrombocytes 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Von Willebrand's Disease:

47
# 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
Sources

Drugs & Therapeutics for Von Willebrand's Disease

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PubMedHealth treatment related to Von Willebrand's Disease: 64

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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Factor VIII Phase 4,Phase 2,Phase 3,Phase 1
2 Hemostatics Phase 4,Phase 3,Phase 2,Not Applicable
3 Coagulants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
4 arginine Phase 4,Phase 2,Not Applicable
5 Natriuretic Agents Phase 4,Phase 2,Not Applicable
6 Arginine Vasopressin Phase 4,Phase 2,Not Applicable
7 Vasopressins Phase 4,Phase 2,Not Applicable
8 Deamino Arginine Vasopressin Phase 4,Phase 2,Not Applicable
9
Tranexamic Acid Approved Phase 3,Not Applicable 1197-18-8 5526
10 Pharmaceutical Solutions Phase 3,Phase 2
11 Antifibrinolytic Agents Phase 3,Not Applicable
12
Oprelvekin Approved, Investigational Phase 2 145941-26-0
13
Thrombin Approved, Investigational
14
Ibuprofen Approved Early Phase 1 15687-27-1 3672
15
Sodium Citrate Approved, Investigational 68-04-2
16
Aspirin Approved, Vet_approved 50-78-2 2244
17
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
18 Analgesics, Non-Narcotic Early Phase 1
19 Analgesics Early Phase 1
20 Cyclooxygenase Inhibitors Early Phase 1
21 Anti-Inflammatory Agents Early Phase 1
22 Antirheumatic Agents Early Phase 1
23 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
24 Peripheral Nervous System Agents Early Phase 1
25 Citrate
26 Platelet Aggregation Inhibitors
27 Complement System Proteins

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 Study of Voncento® in Subjects With Von Willebrand Disease Completed NCT02552576 Phase 4
2 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
3 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex in Surgical Subjects With Von Willebrand Disease (vWD) Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
4 Efficacy and Safety of Fanhdi®, a High-purity Von Willebrand Containing FVIII Concentrate, in Pediatric Patients With Von Willebrand Disease Recruiting NCT02472665 Phase 4 plasma-derived FVIII/VWF concentrate
5 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Active, not recruiting NCT00555555 Phase 4
6 Study of Biostate® in Children With Von Willebrand Disease Completed NCT01213446 Phase 3
7 Extension Study of Biostate in Subjects With Von Willebrand Disease Completed NCT01224808 Phase 3
8 Study of a pd VWF/FVIII Concentrate, Biostate®, in Subjects With Von Willebrand Disease Completed NCT00941616 Phase 2, Phase 3
9 Recombinant Von Willebrand Factor in Subjects With Severe Von Willebrand Disease Undergoing Surgery Completed NCT02283268 Phase 3
10 Pharmacokinetics, Safety and Efficacy of Recombinant Von Willebrand Factor (rVWF) in the Treatment of Bleeding Episodes in Von Willebrand Disease (VWD) Completed NCT01410227 Phase 3 Placebo
11 Wilate in Subjects With Von Willebrand Disease Who Undergo Surgery Completed NCT01365546 Phase 3
12 A Study to Compare the Pharmacokinetics and Safety of Current Factor VIII Concentrate and Optivate® in Haemophilia A. Completed NCT02246881 Phase 3
13 Minimize Menorrhagia in Women With Type 1 Von Willebrand Disease Recruiting NCT02606045 Phase 3 recombinant von Willebrand factor;tranexamic acid
14 rVWF IN PROPHYLAXIS Recruiting NCT02973087 Phase 3
15 rVWF Pediatric and Adult Study Recruiting NCT03879135 Phase 3
16 BAX 111 rVWF in Pediatrics Recruiting NCT02932618 Phase 3
17 Optivate in People With Von Willebrand Disease Undergoing Surgery Terminated NCT00404300 Phase 3 Optivate
18 A Study With OPTIVATE® in People With Von Willebrand Disease Terminated NCT00387192 Phase 3 Optivate
19 A Study to Compare the Pharmacokinetics and Safety of Optivate® and Haemate P® in Patients With Von Willebrand Disease. Completed NCT02250508 Phase 2
20 Phase II Study of IL-11 (Neumega) in Von Willebrand Disease Completed NCT00151125 Phase 2 recombinant interleukin-11;recombinant interleukin-11;recombinant interleukin-11
21 IL-11 in Women With Von Willebrand Disease and Refractory Menorrhagia Completed NCT00524342 Phase 2 Oprelvekin, Interleukin 11, IL-11
22 Efficacy and Safety of IL-11 in DDAVP Unresponsive Completed NCT00994929 Phase 2
23 ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779;ARC1779
24 Von Willebrand Factor Concentrate During ECMO Support Recruiting NCT03613584 Phase 2 Von Willebrand Factor;Saline Solution
25 IL-11 in Adults With Von Willebrand Disease Undergoing Surgery Terminated NCT00524225 Phase 2 Neumega (Oprelvekin, Interleukin 11, IL-11)
26 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
27 Pharmacokinetic, Safety and Tolerability Study of Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex in Type 3 Von Willebrand Disease Completed NCT00816660 Phase 1
28 Phase I Study of Human Von Willebrand Factor for Von Willebrand's Disease Completed NCT00004667 Phase 1 von Willebrand factor
29 Global Hemostatic Methods in Hemophilia and Von Willebrand's Disease Unknown status NCT02061033
30 Type 3 Von Willebrand International Registries Inhibitor Prospective Study Unknown status NCT02460458
31 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
32 Gingival Bleeding and Von Willebrand Disease Typ 2 and 3 Completed NCT03078595
33 Surveillance of Safety and Efficacy of Wilate in Patients With Von Willebrand Disease Completed NCT01602419
34 National Study of Moderate and Severe Von Willebrand Disease in the Netherlands Completed NCT00510042
35 The Von Willebrand Disease (VWD) International Prophylaxis Study Completed NCT00557908 VWF/FVIII products
36 Study on Von Willebrand Disease and Hemophilia in Cuenca, Ecuador Completed NCT01589848
37 Willebrand International Non-interventional Global Surveillance Completed NCT01949220
38 A Canadian Study to Assess the Safety of Humate-P® Ivr (Infusion Volume Reduced) Completed NCT00701545
39 Acquired Von Willebrand Syndrome in Severe Aortic Stenosis Completed NCT00805051
40 Treatment and Management of Women With Bleeding Disorders Completed NCT00111215 Not Applicable Tranexamic Acid;Desmopressin Acetate
41 The Use of Cyclokapron for Treatment and Management of Women With Bleeding Disorders Completed NCT00697385 Not Applicable Cyclokapron
42 Moxibustion for Primary Dysmenorrhea Completed NCT01972906 Early Phase 1 Ibuprofen Sustained Release Capsules
43 Investigating a Von Willebrand Factor (VWF) Functional Screening Assay for Assigning the Phenotypic Variants of Von Willebrand Disease (VWD) Recruiting NCT02466789
44 Molecular and Clinical Profile of Von Willebrand Disease in Spain Recruiting NCT02869074
45 Performance Evaluation of Von Willebrand:Collagen-Binding Assays to Diagnose Von Willebrand Factor Deficiency in Patients With Increased Risk of Bleeding Recruiting NCT02792205
46 Development of a Device for Evaluating Primary Hemostasis Under Whole Blood Flow Conditions Recruiting NCT03773159
47 Frequency of Hemorrhages Associated With the Functional Anomalies of Willebrand Factor in Emergency Patients Recruiting NCT03070912
48 Low VW Activity in Adolescent HMB Recruiting NCT02933411
49 Clinical Performance Evaluation of T-TAS 01 PL Chip Recruiting NCT03621020
50 Low Von Willebrand in Ireland Cohort Study Recruiting NCT03167320

Search NIH Clinical Center for Von Willebrand's Disease

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30
Sources

Anatomical Context for Von Willebrand's Disease

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

42
Testes, Endothelial, Whole Blood, Placenta, Bone Marrow, Appendix, Skin
Sources

Publications for Von Willebrand's Disease

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Articles related to Von Willebrand's Disease:

(show top 50) (show all 2640)
# Title Authors Year
1
Evaluation of the Utility of von Willebrand Factor Propeptide in the Differential Diagnosis of von Willebrand Disease and Acquired von Willebrand Syndrome. ( 29913537 )
2019
2
Large Renal Arteriovenous Malformation in a patient with von Willebrand disease. ( 31051167 )
2019
3
Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence. ( 30819911 )
2019
4
Mechanisms of thrombocytopenia in platelet-type Von Willebrand Disease. ( 30655369 )
2019
5
Pregnancy and delivery in women with von Willebrand disease. ( 31107984 )
2019
6
VWF-FVIII concentrates in the treatment of inherited von Willebrand disease: A single-centre retrospective study. ( 31106935 )
2019
7
Recombinant Von Willebrand factor concentrate in 2A Von Willebrand disease: comparison to plasma-derived Von Willebrand factor concentrate therapy. ( 31090598 )
2019
8
The Course of von Willebrand Factor and Factor VIII Activity in Patients with von Willebrand Disease during Pregnancy. ( 31085919 )
2019
9
Phase 3 study of recombinant von Willebrand factor in patients with severe von Willebrand disease who are undergoing elective surgery: comment. ( 31058403 )
2019
10
Intravenous immunoglobulin treatment in a type 3 von Willebrand disease patient with alloantibodies and a life-threatening gastrointestinal bleed. ( 31050121 )
2019
11
Update on Molecular Testing in von Willebrand Disease. ( 31041796 )
2019
12
BMI is an important determinant of VWF and FVIII levels and bleeding phenotype in patients with von Willebrand disease. ( 31037771 )
2019
13
von Willebrand Disease in Pediatrics: Evaluation and Management. ( 31030811 )
2019
14
Von Willebrand disease and gastrointestinal bleeding: A national inpatient sample study. ( 31026662 )
2019
15
Antifibrinolytic therapy for preventing oral bleeding in patients with haemophilia or Von Willebrand disease undergoing minor oral surgery or dental extractions. ( 31002742 )
2019
16
Periprocedural management of von Willebrand disease: An institutional experience. ( 30994216 )
2019
17
Intra-Abdominal Pseudotumors: A Rare Presentation of Von Willebrand Disease and its Management in Resource Constraint Setting. ( 30988590 )
2019
18
Utility of thromboelastography for the diagnosis of von Willebrand disease. ( 30945453 )
2019
19
Spontaneous recurrent intracranial haemorrhage in a woman with type 2B von Willebrand disease: A clinical case and a brief literature review. ( 30924991 )
2019
20
Whole blood ristocetin-induced platelet impedance aggregometry does not reflect clinical severity in patients with type 1 von Willebrand disease. ( 30866149 )
2019
21
Platelets compensate for poor thrombin generation in type 3 von Willebrand disease. ( 30836803 )
2019
22
Von Willebrand disease screening in women undergoing hysterectomy for heavy menstrual bleeding. ( 30817072 )
2019
23
Genetic variants of VWF gene in type 2 von Willebrand disease. ( 30817071 )
2019
24
Case report of two siblings with type 2A von Willebrand disease involving a novel mutation within the calcium-binding site of the A2 domain of von Willebrand factor. ( 30762591 )
2019
25
A phase III study comparing secondary long-term prophylaxis versus on-demand treatment with vWF/FVIII concentrates in severe inherited von Willebrand disease. ( 30747707 )
2019
26
Quantitative analysis of desmopressin (DDAVP) response in adult patients with type 1 von Willebrand disease. ( 30735311 )
2019
27
Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study. ( 30722078 )
2019
28
Challenges in diagnosis of von Willebrand disease in the presence of combined mutations of different genes. ( 30690834 )
2019
29
Closing the gap - detection of clinically relevant von Willebrand disease in emergency settings through an improved algorithm based on rotational Thromboelastometry. ( 30630422 )
2019
30
Blood inflammatory and endothelial markers in women with von Willebrand disease. ( 30629692 )
2019
31
Management of von Willebrand disease in patients undergoing total hip and knee arthroplasty. ( 30600772 )
2019
32
A single-centre study of management of pregnant women with von Willebrand disease. ( 30561871 )
2019
33
Characterization of VWF gene conversions causing von Willebrand disease. ( 30488424 )
2019
34
Cardiovascular disease-related hospitalization and mortality among persons with von Willebrand disease: A nationwide register study in Sweden. ( 30468283 )
2019
35
Sports participation and physical activity in patients with von Willebrand disease. ( 30427095 )
2019
36
The prevalence and burden of hand and wrist bleeds in von Willebrand disease. ( 30394622 )
2019
37
Self-reported reproductive health experiences in women with von Willebrand disease: a qualitative interview-based study. ( 30207499 )
2019
38
Spinal Anesthesia in 2 Consecutive Cesarean Deliveries in a Parturient With Type 3 von Willebrand Disease: A Case Report. ( 30052531 )
2019
39
Diagnosis and management of patients with von Willebrand's disease in Italy: an Expert Meeting Report. ( 28686158 )
2018
40
Successful treatment of severe menorrhagia at menarche with recombinant factor VIIa in an adolescent girl with type III von Willebrand's disease. ( 29750671 )
2018
41
Current challenges in the diagnosis and management of patients with inherited von Willebrand's disease in Italy: an Expert Meeting Report on the diagnosis and surgical and secondary long-term prophylaxis. ( 29313798 )
2018
42
Acquired von Willebrand Disease Secondary to Clear Cell Renal Cell Carcinoma. ( 30065959 )
2018
43
Differences in von Willebrand factor function in type 2A von Willebrand disease and left ventricular assist device-induced acquired von Willebrand syndrome. ( 30397685 )
2018
44
Acquired von Willebrand Disease Associated with Mantle Cell Lymphoma. ( 29651351 )
2018
45
Liver transplantation in hemophilia A and von Willebrand disease type 3: perioperative management and post-transplant outcome. ( 29931985 )
2018
46
Dental extractions in patients with mild hemophilia A and hemophilia B and von Willebrand disease without clotting factor supplementation. ( 30057379 )
2018
47
Diagnosis and Management of Acquired von Willebrand Disease in Heart Disease: A Review of the Literature. ( 30458570 )
2018
48
Missed at first Glanz: Glanzmann thrombasthenia initially misdiagnosed as Von Willebrand Disease. ( 30551951 )
2018
49
Lenalidomide as a novel therapy for gastrointestinal angiodysplasia in von Willebrand disease. ( 29446520 )
2018
50
Management of pregnancy and emergency caesarean delivery in a patient with type IIB von Willebrand disease and severe preeclampsia: A case report and literature review. ( 29997693 )
2018
Sources

Variations for Von Willebrand's Disease

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ClinVar genetic disease variations for Von Willebrand's Disease:

6 (show top 50) (show all 250)
# Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.4457C> T (p.Ser1486Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 6018961: 6018961
2 VWF NM_000552.4(VWF): c.4457C> T (p.Ser1486Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 6128127: 6128127
3 VWF NM_000552.4(VWF): c.3179delG (p.Cys1060Leufs) deletion Likely pathogenic rs762105711 GRCh38 Chromosome 12, 6025623: 6025623
4 VWF NM_000552.4(VWF): c.3179delG (p.Cys1060Leufs) deletion Likely pathogenic rs762105711 GRCh37 Chromosome 12, 6134789: 6134789
5 VWF NM_000552.4(VWF): c.114C> T (p.Phe38=) single nucleotide variant Conflicting interpretations of pathogenicity rs2229443 GRCh37 Chromosome 12, 6230446: 6230446
6 VWF NM_000552.4(VWF): c.114C> T (p.Phe38=) single nucleotide variant Conflicting interpretations of pathogenicity rs2229443 GRCh38 Chromosome 12, 6121280: 6121280
7 VWF NM_000552.4(VWF): c.1862G> C (p.Cys621Ser) single nucleotide variant Uncertain significance rs886049744 GRCh38 Chromosome 12, 6056940: 6056940
8 VWF NM_000552.4(VWF): c.1862G> C (p.Cys621Ser) single nucleotide variant Uncertain significance rs886049744 GRCh37 Chromosome 12, 6166106: 6166106
9 VWF NM_000552.4(VWF): c.1945+15T> A single nucleotide variant Likely benign rs71582861 GRCh38 Chromosome 12, 6056842: 6056842
10 VWF NM_000552.4(VWF): c.1945+15T> A single nucleotide variant Likely benign rs71582861 GRCh37 Chromosome 12, 6166008: 6166008
11 VWF NM_000552.4(VWF): c.3719C> T (p.Pro1240Leu) single nucleotide variant Uncertain significance rs150576611 GRCh38 Chromosome 12, 6019699: 6019699
12 VWF NM_000552.4(VWF): c.3719C> T (p.Pro1240Leu) single nucleotide variant Uncertain significance rs150576611 GRCh37 Chromosome 12, 6128865: 6128865
13 VWF NM_000552.4(VWF): c.5493C> T (p.Tyr1831=) single nucleotide variant Uncertain significance rs769268109 GRCh37 Chromosome 12, 6122774: 6122774
14 VWF NM_000552.4(VWF): c.5493C> T (p.Tyr1831=) single nucleotide variant Uncertain significance rs769268109 GRCh38 Chromosome 12, 6013608: 6013608
15 VWF NM_000552.4(VWF): c.5620+10A> G single nucleotide variant Uncertain significance rs886049740 GRCh37 Chromosome 12, 6122637: 6122637
16 VWF NM_000552.4(VWF): c.5664+15G> A single nucleotide variant Uncertain significance rs7961539 GRCh37 Chromosome 12, 6121238: 6121238
17 VWF NM_000552.4(VWF): c.5664+15G> A single nucleotide variant Uncertain significance rs7961539 GRCh38 Chromosome 12, 6012072: 6012072
18 VWF NM_000552.4(VWF): c.5785A> T (p.Asn1929Tyr) single nucleotide variant Uncertain significance rs149799233 GRCh37 Chromosome 12, 6120840: 6120840
19 VWF NM_000552.4(VWF): c.5785A> T (p.Asn1929Tyr) single nucleotide variant Uncertain significance rs149799233 GRCh38 Chromosome 12, 6011674: 6011674
20 VWF NM_000552.4(VWF): c.6572T> C (p.Val2191Ala) single nucleotide variant Uncertain significance rs753731128 GRCh37 Chromosome 12, 6103054: 6103054
21 VWF NM_000552.4(VWF): c.6572T> C (p.Val2191Ala) single nucleotide variant Uncertain significance rs753731128 GRCh38 Chromosome 12, 5993888: 5993888
22 VWF NM_000552.4(VWF): c.6908C> T (p.Thr2303Met) single nucleotide variant Uncertain significance rs149432685 GRCh37 Chromosome 12, 6094279: 6094279
23 VWF NM_000552.4(VWF): c.6908C> T (p.Thr2303Met) single nucleotide variant Uncertain significance rs149432685 GRCh38 Chromosome 12, 5985113: 5985113
24 VWF NM_000552.4(VWF): c.6931C> T (p.Arg2311Cys) single nucleotide variant Uncertain significance rs150725355 GRCh37 Chromosome 12, 6094256: 6094256
25 VWF NM_000552.4(VWF): c.6931C> T (p.Arg2311Cys) single nucleotide variant Uncertain significance rs150725355 GRCh38 Chromosome 12, 5985090: 5985090
26 VWF NM_000552.4(VWF): c.6976+11C> T single nucleotide variant Uncertain significance rs751395078 GRCh37 Chromosome 12, 6094200: 6094200
27 VWF NM_000552.4(VWF): c.6976+11C> T single nucleotide variant Uncertain significance rs751395078 GRCh38 Chromosome 12, 5985034: 5985034
28 VWF NM_000552.4(VWF): c.7007C> T (p.Pro2336Leu) single nucleotide variant Uncertain significance rs144769404 GRCh37 Chromosome 12, 6092390: 6092390
29 VWF NM_000552.4(VWF): c.7007C> T (p.Pro2336Leu) single nucleotide variant Uncertain significance rs144769404 GRCh38 Chromosome 12, 5983224: 5983224
30 VWF NM_000552.4(VWF): c.7082-13G> C single nucleotide variant Uncertain significance rs71581025 GRCh37 Chromosome 12, 6091170: 6091170
31 VWF NM_000552.4(VWF): c.7082-13G> C single nucleotide variant Uncertain significance rs71581025 GRCh38 Chromosome 12, 5982004: 5982004
32 VWF NM_000552.4(VWF): c.7240G> A (p.Ala2414Thr) single nucleotide variant Uncertain significance rs754853953 GRCh37 Chromosome 12, 6090999: 6090999
33 VWF NM_000552.4(VWF): c.7240G> A (p.Ala2414Thr) single nucleotide variant Uncertain significance rs754853953 GRCh38 Chromosome 12, 5981833: 5981833
34 VWF NM_000552.4(VWF): c.7698G> A (p.Lys2566=) single nucleotide variant Uncertain significance rs16932285 GRCh37 Chromosome 12, 6078408: 6078408
35 VWF NM_000552.4(VWF): c.7698G> A (p.Lys2566=) single nucleotide variant Uncertain significance rs16932285 GRCh38 Chromosome 12, 5969242: 5969242
36 VWF NM_000552.4(VWF): c.7800C> T (p.Cys2600=) single nucleotide variant Uncertain significance rs200209213 GRCh38 Chromosome 12, 5967573: 5967573
37 VWF NM_000552.4(VWF): c.7800C> T (p.Cys2600=) single nucleotide variant Uncertain significance rs200209213 GRCh37 Chromosome 12, 6076739: 6076739
38 VWF NM_000552.4(VWF): c.8155+8C> T single nucleotide variant Uncertain significance rs886049735 GRCh38 Chromosome 12, 5951836: 5951836
39 VWF NM_000552.4(VWF): c.8155+8C> T single nucleotide variant Uncertain significance rs886049735 GRCh37 Chromosome 12, 6061002: 6061002
40 VWF NM_000552.4(VWF): c.8160G> A (p.Glu2720=) single nucleotide variant Uncertain significance rs368802960 GRCh38 Chromosome 12, 5949879: 5949879
41 VWF NM_000552.4(VWF): c.8160G> A (p.Glu2720=) single nucleotide variant Uncertain significance rs368802960 GRCh37 Chromosome 12, 6059045: 6059045
42 VWF NM_000552.4(VWF): c.8366C> G (p.Thr2789Ser) single nucleotide variant Uncertain significance rs371036946 GRCh38 Chromosome 12, 5949091: 5949091
43 VWF NM_000552.4(VWF): c.8366C> G (p.Thr2789Ser) single nucleotide variant Uncertain significance rs371036946 GRCh37 Chromosome 12, 6058257: 6058257
44 VWF NM_000552.4(VWF): c.5620+10A> G single nucleotide variant Uncertain significance rs886049740 GRCh38 Chromosome 12, 6013471: 6013471
45 VWF NM_000552.4(VWF): c.-131G> C single nucleotide variant Uncertain significance rs886049748 GRCh38 Chromosome 12, 6124551: 6124551
46 VWF NM_000552.4(VWF): c.-107C> G single nucleotide variant Uncertain significance rs886049747 GRCh37 Chromosome 12, 6233693: 6233693
47 VWF NM_000552.4(VWF): c.-107C> G single nucleotide variant Uncertain significance rs886049747 GRCh38 Chromosome 12, 6124527: 6124527
48 VWF NM_000552.4(VWF): c.55+8C> A single nucleotide variant Uncertain significance rs114713980 GRCh37 Chromosome 12, 6232300: 6232300
49 VWF NM_000552.4(VWF): c.55+8C> A single nucleotide variant Uncertain significance rs114713980 GRCh38 Chromosome 12, 6123134: 6123134
50 VWF NM_000552.4(VWF): c.250C> T (p.Leu84Phe) single nucleotide variant Uncertain significance rs372664002 GRCh37 Chromosome 12, 6220105: 6220105
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:

38
# 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
Response to elevated platelet cytosolic Ca2+ 67
Show member pathways
 12.89 F11 F2 F3 F5 F8 F9
2
Collagen chain trimerization 67
Show member pathways
 12.46 F11 F2 F3 F5 F8 F9
3
Complement and coagulation cascades 1 38
11.64 F11 F2 F3 F5 F8 F9
4
Integrin alphaIIb beta3 signaling 67
Show member pathways
 11.54 F2 GP1BA VWF
5
Formation of Fibrin Clot (Clotting Cascade) 67
Show member pathways
 11.43 F11 F2 F3 F5 F8 F9
6
amb2 Integrin signaling 1
11.14 GP1BA SELP
7
Warfarin Pathway, Pharmacodynamics 62
10.61 F2 F9
8
Platelet Adhesion to exposed collagen 67
10.52 GP1BA VWF
9
GP1b-IX-V activation signalling 67
10.32 GP1BA VWF
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:

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

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

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

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

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

Sources for Von Willebrand's Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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