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MCID: VNW001
MIFTS: 60

Von Willebrand's Disease

Categories: Rare diseases, Immune diseases, Blood diseases, Cardiovascular 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 76 24 53 25 59 55 3 63 40 73
Von Willebrand Disorder 12 25 29 6
Vascular Pseudohemophilia 12 25
Vwd 53 3
Von Willebrand's Factor Deficiency 25
Von Willebrand's-Jurgens' Disease 12
Von Willebrand Factor, Deficiency 53
Hereditary Von Willebrand Disease 59
Von Willebrand-Jrgens Disease 12
Von Willebrand Diseases 44
Vascular Hemophilia 12
Angiohemophilia 25

Characteristics:

Orphanet epidemiological data:

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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases Blood diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:12531
ICD10 33 D68.0 D69.8
ICD9CM 35 286.4
MeSH 44 D014842
NCIt 50 C68677
Orphanet 59 ORPHA903
ICD10 via Orphanet 34 D68.0
MESH via Orphanet 45 D014842
UMLS via Orphanet 74 C0042974
UMLS 73 C0042974
Sources

Summaries for Von Willebrand's Disease

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

MalaCards based summary : Von Willebrand's Disease, also known as von willebrand disease, is related to von willebrand disease, type 2 and pseudo-von willebrand disease. An important gene associated with Von Willebrand's Disease is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Factor VIII and Arginine Vasopressin have been mentioned in the context of this disorder. Affiliated tissues include testes, endothelial and bone, and related phenotypes are abnormality of coagulation and deviation of finger

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

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

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

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

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

GeneReviews:
Sources

Related Diseases for Von Willebrand's Disease

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

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 2 35.6 F8 VWF
2 pseudo-von willebrand disease 35.4 GP1BA VWF
3 von willebrand disease, type 3 34.4 ANO2 F8 GP1BA VWF
4 von willebrand disease, type 1 34.1 F2 F3 F8 VWF
5 acquired von willebrand syndrome 30.8 F11 F8 F9 GP1BA VWF
6 hemophilia 28.4 F2 F3 F8 F9 VWF
7 hemophilia a 26.6 F11 F3 F5 F8 F9 VWF
8 hemorrhagic disease 25.1 ADAMTS13 F11 F2 F3 F5 F8
9 von willebrand disease, x-linked form 12.2
10 fainting 10.8 F8 VWF
11 mild hemophilia a 10.8 F8 VWF
12 cerebral arteritis 10.8 F8 VWF
13 thrombotic thrombocytopenic purpura, acquired 10.7 ADAMTS13 VWF
14 angina pectoris 10.7 F3 VWF
15 bombay phenotype 10.7 ADAMTS13 VWF
16 lymphangiosarcoma 10.7 F8 VWF
17 multicentric castleman disease 10.6 F3 F8
18 active peptic ulcer disease 10.6 F2 VWF
19 autoimmune disease of blood 10.6 ADAMTS13 VWF
20 cerebral falx meningioma 10.6 F2 F3
21 intestinal impaction 10.6 F2 F3
22 leech infestation 10.5 F2 F3
23 vitamin k deficiency hemorrhagic disease 10.5 F2 F8
24 giant hemangioma 10.5 F2 F3
25 platelet aggregation, spontaneous 10.5 SELP VWF
26 blue toe syndrome 10.5 F2 F3
27 intracranial embolism 10.5 F2 F3
28 femoral neuropathy 10.5 F2 F3
29 hantavirus pulmonary syndrome 10.5 F2 F3
30 anterior cranial fossa meningioma 10.5 F2 F3
31 splenic disease 10.5 F2 F3
32 marantic endocarditis 10.5 F2 F3
33 heparin-induced thrombocytopenia 10.5 F3 SELP
34 purpura fulminans 10.5 F2 F3
35 hepatic infarction 10.5 F2 F3
36 compartment syndrome 10.5 F2 F8
37 spotted fever 10.5 F2 VWF
38 coronary thrombosis 10.4 F3 GP1BA VWF
39 hemorrhagic fever 10.4 F2 F3
40 carotid artery thrombosis 10.4 F3 SELP
41 factor v and factor viii, combined deficiency of, 2 10.4 F5 F8
42 branch retinal artery occlusion 10.4 F2 F3
43 endocardium disease 10.3 F2 F3
44 hepatic veno-occlusive disease 10.3 F3 F8
45 analbuminemia 10.3 F2 F3
46 hepatic vascular disease 10.3 F2 F3
47 carotid artery occlusion 10.3 F5 F8
48 intermediate coronary syndrome 10.3 F3 SELP
49 korean hemorrhagic fever 10.3 F2 F3 VWF
50 squamous cell papilloma 10.3 F2 F3

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


Active Peptic Ulcer Disease

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



Diseases related to Von Willebrand's Disease
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Symptoms & Phenotypes for Von Willebrand's Disease

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Human phenotypes related to Von Willebrand's Disease:

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

MGI Mouse Phenotypes related to Von Willebrand's Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.91 F3 F8 F9 ADAMTS13 GP1BA F11
2 cardiovascular system MP:0005385 9.87 F2 VWF F3 F5 F9 F11
3 homeostasis/metabolism MP:0005376 9.85 F3 F5 F8 F9 ADAMTS13 GP1BA
4 immune system MP:0005387 9.56 F3 F8 F9 ADAMTS13 F11 SELP
5 mortality/aging MP:0010768 9.28 VWF F3 F5 F8 F9 ADAMTS13
Sources

Drugs & Therapeutics for Von Willebrand's Disease

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PubMedHealth treatment related to Von Willebrand's Disease: 63

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

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

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

Interventional clinical trials:

(show top 50) (show all 54)
# 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 Fanhdi
5 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Active, not recruiting NCT00555555 Phase 4
6 Study of Biostate® in Children With Von Willebrand Disease Completed NCT01213446 Phase 3
7 Extension Study of Biostate in Subjects With Von Willebrand Disease Completed NCT01224808 Phase 3
8 Study of a pd VWF/FVIII Concentrate, Biostate®, in Subjects With Von Willebrand Disease Completed NCT00941616 Phase 2, Phase 3
9 Recombinant Von Willebrand Factor in Subjects With Severe Von Willebrand Disease Undergoing Surgery Completed NCT02283268 Phase 3
10 Pharmacokinetics, Safety and Efficacy of Recombinant Von Willebrand Factor (rVWF) in the Treatment of Bleeding Episodes in Von Willebrand Disease (VWD) Completed NCT01410227 Phase 3 Placebo
11 Wilate in Subjects With Von Willebrand Disease Who Undergo Surgery Completed NCT01365546 Phase 3
12 A Study to Compare the Pharmacokinetics and Safety of Current Factor VIII Concentrate and Optivate® in Haemophilia A. Completed NCT02246881 Phase 3
13 rVWF IN PROPHYLAXIS Recruiting NCT02973087 Phase 3
14 BAX 111 rVWF in Pediatrics Recruiting NCT02932618 Phase 3
15 Minimize Menorrhagia in Women With Type 1 Von Willebrand Disease Not yet recruiting NCT02606045 Phase 3 recombinant von Willebrand factor;tranexamic acid
16 Optivate in People With Von Willebrand Disease Undergoing Surgery Terminated NCT00404300 Phase 3 Optivate
17 A Study With OPTIVATE® in People With Von Willebrand Disease Terminated NCT00387192 Phase 3 Optivate
18 A Study to Compare the Pharmacokinetics and Safety of Optivate® and Haemate P® in Patients With Von Willebrand Disease. Completed NCT02250508 Phase 2
19 Phase II Study of IL-11 (Neumega) in Von Willebrand Disease Completed NCT00151125 Phase 2 recombinant interleukin-11;recombinant interleukin-11;recombinant interleukin-11
20 IL-11 in Women With Von Willebrand Disease and Refractory Menorrhagia Completed NCT00524342 Phase 2 Oprelvekin, Interleukin 11, IL-11
21 Efficacy and Safety of IL-11 in DDAVP Unresponsive Completed NCT00994929 Phase 2
22 ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779;ARC1779
23 IL-11 in Adults With Von Willebrand Disease Undergoing Surgery Terminated NCT00524225 Phase 2 Neumega (Oprelvekin, Interleukin 11, IL-11)
24 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
25 Pharmacokinetic, Safety and Tolerability Study of Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex in Type 3 Von Willebrand Disease Completed NCT00816660 Phase 1
26 Phase I Study of Human Von Willebrand Factor for Von Willebrand's Disease Completed NCT00004667 Phase 1 von Willebrand factor
27 Willebrand International Non-interventional Global Surveillance Unknown status NCT01949220
28 Type 3 Von Willebrand International Registries Inhibitor Prospective Study Unknown status NCT02460458
29 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
30 Gingival Bleeding and Von Willebrand Disease Typ 2 and 3 Completed NCT03078595
31 Surveillance of Safety and Efficacy of Wilate in Patients With Von Willebrand Disease Completed NCT01602419
32 National Study of Moderate and Severe Von Willebrand Disease in the Netherlands Completed NCT00510042
33 The Von Willebrand Disease (VWD) International Prophylaxis Study Completed NCT00557908 VWF/FVIII products
34 Study on Von Willebrand Disease and Hemophilia in Cuenca, Ecuador Completed NCT01589848
35 A Canadian Study to Assess the Safety of Humate-P® Ivr (Infusion Volume Reduced) Completed NCT00701545
36 Acquired Von Willebrand Syndrome in Severe Aortic Stenosis Completed NCT00805051
37 Treatment and Management of Women With Bleeding Disorders Completed NCT00111215 Not Applicable Tranexamic Acid;Desmopressin Acetate
38 The Use of Cyclokapron for Treatment and Management of Women With Bleeding Disorders Completed NCT00697385 Not Applicable Cyclokapron
39 Moxibustion for Primary Dysmenorrhea Completed NCT01972906 Early Phase 1 Ibuprofen Sustained Release Capsules
40 Investigating a Von Willebrand Factor (VWF) Functional Screening Assay for Assigning the Phenotypic Variants of Von Willebrand Disease (VWD) Recruiting NCT02466789
41 Molecular and Clinical Profile of Von Willebrand Disease in Spain Recruiting NCT02869074
42 Global Hemostatic Methods in Hemophilia and Von Willebrand's Disease Recruiting NCT02061033
43 Frequency of Hemorrhages Associated With the Functional Anomalies of Willebrand Factor in Emergency Patients Recruiting NCT03070912
44 Low VW Activity in Adolescent HMB Recruiting NCT02933411
45 Low Von Willebrand in Ireland Cohort Study Recruiting NCT03167320
46 Prevalence, Risk Factors and Consequences Related to Cesarean Scar Defect (Defect in Cesarean Scar) Active, not recruiting NCT02717312
47 Von Willebrand Disease in the Netherlands Not yet recruiting NCT03521583
48 Performance Evaluation of Von Willebrand:Collagen-Binding Assays to Diagnose Von Willebrand Factor Deficiency in Patients With Increased Risk of Bleeding Not yet recruiting NCT02792205
49 Pain in Patients With Congenital Coagulopathies Not yet recruiting NCT03499522
50 Prospective Psychometric Evaluation Study of a Patient-reported Outcomes (PRO) Instrument for Congenital Thrombotic Thrombocytopenic Purpura (cTTP, Upshaw-Schulman Syndrome [USS], Hereditary Thrombotic Thrombocytopenic Purpura [hTTP] Not yet recruiting NCT03519672

Search NIH Clinical Center for Von Willebrand's Disease

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


Cochrane evidence based reviews: von willebrand diseases

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:

41
Testes, Endothelial, Bone, Bone Marrow, Liver, Heart, Lung
Sources

Publications for Von Willebrand's Disease

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Articles related to Von Willebrand's Disease:

(show top 50) (show all 1162)
# Title Authors Year
1
Genetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients. ( 29389944 )
2018
2
Current challenges in the diagnosis and management of patients with inherited von Willebrand's disease in Italy: an Expert Meeting Report on the diagnosis and surgical and secondary long-term prophylaxis. ( 29313798 )
2018
3
Successful treatment of severe menorrhagia at menarche with recombinant factor VIIa in an adolescent girl with type III von Willebrand's disease. ( 29750671 )
2018
4
Lenalidomide as a novel therapy for gastrointestinal angiodysplasia in von Willebrand disease. ( 29446520 )
2018
5
Evaluation of the Utility of von Willebrand Factor Propeptide in the Differential Diagnosis of von Willebrand Disease and Acquired von Willebrand Syndrome. ( 29913537 )
2018
6
Liver transplantation in hemophilia A and von Willebrand disease type 3: perioperative management and post-transplant outcome. ( 29931985 )
2018
7
Von Willebrand's disease: case report and review of literature. ( 28904675 )
2017
8
Clinical and laboratory phenotype variability in type 2M von Willebrand disease. ( 28544236 )
2017
9
Successful Use of a Highly Purified Plasma von Willebrand Factor Concentrate Containing Little FVIII for the Long-Term Prophylaxis of Severe (Type 3) von Willebrand's Disease. ( 28609796 )
2017
10
Angiodysplasia in von Willebrand Disease: Understanding the Clinical and Basic Science. ( 28476066 )
2017
11
The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype. ( 27889474 )
2017
12
Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease. ( 28436749 )
2017
13
Outcome of laparoscopic ovariohysterectomy or ovariectomy in dogs with von Willebrand disease or factor VII deficiency: 20 cases (2012-2014). ( 29035661 )
2017
14
Diagnosis and management of patients with von Willebrand's disease in Italy: an Expert Meeting Report. ( 28686158 )
2017
15
Von Willebrand's Disease. ( 28207207 )
2017
16
Plasma levels of plasminogen activator inhibitor-1 and bleeding phenotype in patients with von Willebrand disease. ( 28306198 )
2017
17
Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice. ( 28581694 )
2017
18
A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct. ( 29186156 )
2017
19
Type 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia. ( 28060120 )
2017
20
Recombinant von Willebrand factor for severe gastrointestinal bleeding unresponsive to other treatments in a patient with type 2A von Willebrand disease: a case report. ( 28379876 )
2017
21
Management of Type 2B von Willebrand Disease during Pregnancy. ( 28118618 )
2017
22
Revascularization Operation for Moyamoya Disease with Concurrent von Willebrand Disease. ( 28866059 )
2017
23
von Willebrand disease and extra-intestinal angiodysplasia. ( 28574209 )
2017
24
Discrepant platelet and plasma von Willebrand factor in von Willebrand disease patients with p.Pro2808Leufs*24. ( 28453889 )
2017
25
Von Willebrand's Disease. ( 28199817 )
2017
26
Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue. ( 28640903 )
2017
27
Application of a strain rate gradient microfluidic device to von Willebrand's disease screening. ( 28660968 )
2017
28
Response to the commentary on "Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review". ( 27422428 )
2016
29
Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid-Dependent Pseudothrombocytopenia. ( 27215777 )
2016
30
Heavy menstrual bleeding and health-associated quality of life in women with von Willebrand's disease. ( 27168829 )
2016
31
Management of type 2b von Willebrand disease in the neonatal period. ( 27468167 )
2016
32
Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami. ( 27344059 )
2016
33
Variable bleeding phenotype in an Amish pedigree with von Willebrand disease. ( 27414491 )
2016
34
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm. ( 26245874 )
2016
35
Genotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B. ( 27353798 )
2016
36
Type 2M von Willebrand disease - more often misidentified than correctly identified. ( 27029718 )
2016
37
Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism. ( 27317792 )
2016
38
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )
2016
39
Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease. ( 26639996 )
2016
40
Endothelial dysfunction in von Willebrand disease: angiogenesis and angiodysplasia. ( 27207426 )
2016
41
Von Willebrand's Disease. ( 27959741 )
2016
42
Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review-a commentary. ( 27422427 )
2016
43
Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality. ( 27148840 )
2016
44
Phenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation. ( 27978591 )
2016
45
Type 2M and Type 2A von Willebrand Disease: Similar but Different. ( 27148841 )
2016
46
Efficacy of tranexamic acid for the prevention of bleeding in patients with von Willebrand disease and Glanzmann thrombasthenia: a controlled, before and after trial. ( 27478149 )
2016
47
Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review. ( 26210168 )
2016
48
Genetic diagnosis in hemophilia and von Willebrand disease. ( 27596108 )
2016
49
Human von Willebrand factor/factor VIII concentrates in the management of pediatric patients with von Willebrand disease/hemophilia A. ( 27445481 )
2016
50
A family having type 2B von Willebrand disease with a novel VWF p.R1308S mutation: Detection of characteristic platelet aggregates on peripheral blood smears as the key aspect of diagnosis. ( 26278967 )
2015
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 222)
# Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh37 Chromosome 12, 6143978: 6143978
2 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh38 Chromosome 12, 6034812: 6034812
3 VWF NM_000552.4(VWF): c.2880G> A (p.Arg960=) single nucleotide variant Benign/Likely benign rs1800380 GRCh37 Chromosome 12, 6138595: 6138595
4 VWF NM_000552.4(VWF): c.2880G> A (p.Arg960=) single nucleotide variant Benign/Likely benign rs1800380 GRCh38 Chromosome 12, 6029429: 6029429
5 VWF NM_000552.4(VWF): c.5369C> T (p.Pro1790Leu) single nucleotide variant Uncertain significance rs551649729 GRCh37 Chromosome 12, 6125341: 6125341
6 VWF NM_000552.4(VWF): c.5369C> T (p.Pro1790Leu) single nucleotide variant Uncertain significance rs551649729 GRCh38 Chromosome 12, 6016175: 6016175
7 VWF NM_000552.4(VWF): c.954T> A (p.Asn318Lys) single nucleotide variant Benign/Likely benign rs1800387 GRCh37 Chromosome 12, 6182828: 6182828
8 VWF NM_000552.4(VWF): c.954T> A (p.Asn318Lys) single nucleotide variant Benign/Likely benign rs1800387 GRCh38 Chromosome 12, 6073662: 6073662
9 VWF NM_000552.4(VWF): c.7997C> T (p.Thr2666Met) single nucleotide variant Likely benign rs78353028 GRCh37 Chromosome 12, 6061675: 6061675
10 VWF NM_000552.4(VWF): c.7997C> T (p.Thr2666Met) single nucleotide variant Likely benign rs78353028 GRCh38 Chromosome 12, 5952509: 5952509
11 VWF NM_000552.4(VWF): c.8113G> A (p.Gly2705Arg) single nucleotide variant Likely benign rs7962217 GRCh37 Chromosome 12, 6061559: 6061559
12 VWF NM_000552.4(VWF): c.8113G> A (p.Gly2705Arg) single nucleotide variant Likely benign rs7962217 GRCh38 Chromosome 12, 5952393: 5952393
13 VWF NM_000552.4(VWF): c.7887+12T> C single nucleotide variant Uncertain significance rs55687637 GRCh38 Chromosome 12, 5967474: 5967474
14 VWF NM_000552.4(VWF): c.7887+12T> C single nucleotide variant Uncertain significance rs55687637 GRCh37 Chromosome 12, 6076640: 6076640
15 VWF NM_000552.4(VWF): c.7771-13C> T single nucleotide variant Likely benign rs11063962 GRCh37 Chromosome 12, 6076781: 6076781
16 VWF NM_000552.4(VWF): c.7771-13C> T single nucleotide variant Likely benign rs11063962 GRCh38 Chromosome 12, 5967615: 5967615
17 VWF NM_000552.4(VWF): c.7682T> A (p.Phe2561Tyr) single nucleotide variant Likely benign rs35335161 GRCh37 Chromosome 12, 6078424: 6078424
18 VWF NM_000552.4(VWF): c.7682T> A (p.Phe2561Tyr) single nucleotide variant Likely benign rs35335161 GRCh38 Chromosome 12, 5969258: 5969258
19 VWF NM_000552.4(VWF): c.7239T> C (p.Thr2413=) single nucleotide variant Likely benign rs216867 GRCh37 Chromosome 12, 6091000: 6091000
20 VWF NM_000552.4(VWF): c.7239T> C (p.Thr2413=) single nucleotide variant Likely benign rs216867 GRCh38 Chromosome 12, 5981834: 5981834
21 VWF NM_000552.4(VWF): c.7082-7C> T single nucleotide variant Likely benign rs216868 GRCh38 Chromosome 12, 5981998: 5981998
22 VWF NM_000552.4(VWF): c.7082-7C> T single nucleotide variant Likely benign rs216868 GRCh37 Chromosome 12, 6091164: 6091164
23 VWF NM_000552.4(VWF): c.6846A> G (p.Thr2282=) single nucleotide variant Likely benign rs1053523 GRCh37 Chromosome 12, 6094784: 6094784
24 VWF NM_000552.4(VWF): c.6846A> G (p.Thr2282=) single nucleotide variant Likely benign rs1053523 GRCh38 Chromosome 12, 5985618: 5985618
25 VWF NM_000552.4(VWF): c.6799-14C> T single nucleotide variant Likely benign rs177702 GRCh37 Chromosome 12, 6094845: 6094845
26 VWF NM_000552.4(VWF): c.6799-14C> T single nucleotide variant Likely benign rs177702 GRCh38 Chromosome 12, 5985679: 5985679
27 VWF NM_000552.4(VWF): c.6798+14C> T single nucleotide variant Likely benign rs7315124 GRCh38 Chromosome 12, 5991805: 5991805
28 VWF NM_000552.4(VWF): c.6798+14C> T single nucleotide variant Likely benign rs7315124 GRCh37 Chromosome 12, 6100971: 6100971
29 VWF NM_000552.4(VWF): c.6345T> A (p.Thr2115=) single nucleotide variant Likely benign rs11537642 GRCh37 Chromosome 12, 6103281: 6103281
30 VWF NM_000552.4(VWF): c.6345T> A (p.Thr2115=) single nucleotide variant Likely benign rs11537642 GRCh38 Chromosome 12, 5994115: 5994115
31 VWF NM_000552.4(VWF): c.5844C> T (p.Cys1948=) single nucleotide variant Likely benign rs216902 GRCh37 Chromosome 12, 6105387: 6105387
32 VWF NM_000552.4(VWF): c.5844C> T (p.Cys1948=) single nucleotide variant Likely benign rs216902 GRCh38 Chromosome 12, 5996221: 5996221
33 VWF NM_000552.4(VWF): c.5667C> T (p.Pro1889=) single nucleotide variant Likely benign rs56981471 GRCh37 Chromosome 12, 6120958: 6120958
34 VWF NM_000552.4(VWF): c.5667C> T (p.Pro1889=) single nucleotide variant Likely benign rs56981471 GRCh38 Chromosome 12, 6011792: 6011792
35 VWF NM_000552.4(VWF): c.4693G> T (p.Val1565Leu) single nucleotide variant Benign/Likely benign rs1800385 GRCh38 Chromosome 12, 6018725: 6018725
36 VWF NM_000552.4(VWF): c.4693G> T (p.Val1565Leu) single nucleotide variant Benign/Likely benign rs1800385 GRCh37 Chromosome 12, 6127891: 6127891
37 VWF NM_000552.4(VWF): c.4665A> C (p.Ala1555=) single nucleotide variant Benign/Likely benign rs1800384 GRCh38 Chromosome 12, 6018753: 6018753
38 VWF NM_000552.4(VWF): c.4665A> C (p.Ala1555=) single nucleotide variant Benign/Likely benign rs1800384 GRCh37 Chromosome 12, 6127919: 6127919
39 VWF NM_000552.4(VWF): c.4641T> C (p.Thr1547=) single nucleotide variant Benign/Likely benign rs216310 GRCh38 Chromosome 12, 6018777: 6018777
40 VWF NM_000552.4(VWF): c.4641T> C (p.Thr1547=) single nucleotide variant Benign/Likely benign rs216310 GRCh37 Chromosome 12, 6127943: 6127943
41 VWF NM_000552.4(VWF): c.4414G> C (p.Asp1472His) single nucleotide variant Benign/Likely benign rs1800383 GRCh38 Chromosome 12, 6019004: 6019004
42 VWF NM_000552.4(VWF): c.4414G> C (p.Asp1472His) single nucleotide variant Benign/Likely benign rs1800383 GRCh37 Chromosome 12, 6128170: 6128170
43 VWF NM_000552.4(VWF): c.4141A> G (p.Thr1381Ala) single nucleotide variant Benign/Likely benign rs216311 GRCh38 Chromosome 12, 6019277: 6019277
44 VWF NM_000552.4(VWF): c.4141A> G (p.Thr1381Ala) single nucleotide variant Benign/Likely benign rs216311 GRCh37 Chromosome 12, 6128443: 6128443
45 VWF NM_000552.4(VWF): c.3795G> A (p.Pro1265=) single nucleotide variant Benign/Likely benign rs2228319 GRCh37 Chromosome 12, 6128789: 6128789
46 VWF NM_000552.4(VWF): c.3795G> A (p.Pro1265=) single nucleotide variant Benign/Likely benign rs2228319 GRCh38 Chromosome 12, 6019623: 6019623
47 VWF NM_000552.4(VWF): c.3579T> C (p.Pro1193=) single nucleotide variant Benign/Likely benign rs16933969 GRCh37 Chromosome 12, 6131161: 6131161
48 VWF NM_000552.4(VWF): c.3579T> C (p.Pro1193=) single nucleotide variant Benign/Likely benign rs16933969 GRCh38 Chromosome 12, 6021995: 6021995
49 VWF NM_000552.4(VWF): c.3486A> G (p.Pro1162=) single nucleotide variant Likely benign rs546732699 GRCh38 Chromosome 12, 6022792: 6022792
50 VWF NM_000552.4(VWF): c.3486A> G (p.Pro1162=) single nucleotide variant Likely benign rs546732699 GRCh37 Chromosome 12, 6131958: 6131958
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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.89 F11 F2 F3 F5 F8 F9
2
Collagen chain trimerization 66
Show member pathways
 12.46 F11 F2 F3 F5 F8 F9
3
Complement and coagulation cascades 1 37
11.64 F11 F2 F3 F5 F8 F9
4
Integrin alphaIIb beta3 signaling 66
Show member pathways
 11.54 F2 GP1BA VWF
5
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.43 F11 F2 F3 F5 F8 F9
6
Warfarin Pathway, Pharmacodynamics 61
10.61 F2 F9
7
Platelet Adhesion to exposed collagen 66
10.52 GP1BA VWF
8
GP1b-IX-V activation signalling 66
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 extracellular space GO:0005615 9.56 ADAMTS13 F11 F2 F3 F5 F8
4 platelet alpha granule lumen GO:0031093 9.43 F5 F8 VWF
5 COPII-coated ER to Golgi transport vesicle GO:0030134 9.4 F5 F8
6 platelet alpha granule GO:0031091 9.37 F5 VWF
7 endoplasmic reticulum lumen GO:0005788 9.02 ADAMTS13 F2 F5 F8 F9

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 ER to Golgi vesicle-mediated transport GO:0006888 9.71 F2 F5 F8 F9
2 platelet degranulation GO:0002576 9.67 F5 F8 SELP VWF
3 platelet activation GO:0030168 9.65 ADAMTS13 F2 F8 GP1BA VWF
4 blood coagulation, intrinsic pathway GO:0007597 9.63 F11 F2 F8 F9 GP1BA VWF
5 blood coagulation GO:0007596 9.61 ADAMTS13 F11 F2 F3 F5 F8
6 acute-phase response GO:0006953 9.51 F2 F8
7 regulation of blood coagulation GO:0030193 9.5 F11 F2 GP1BA
8 signal peptide processing GO:0006465 9.49 F2 F9
9 fibrinolysis GO:0042730 9.48 F2 GP1BA
10 peptidyl-glutamic acid carboxylation GO:0017187 9.46 F2 F9
11 blood coagulation, extrinsic pathway GO:0007598 9.43 F3 F9
12 hemostasis GO:0007599 9.28 ADAMTS13 F11 F2 F3 F5 F8

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