VWD
MCID: VNW001
MIFTS: 61

Von Willebrand's Disease (VWD) malady

Categories: Rare diseases, Immune diseases, Blood diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Von Willebrand's Disease

Aliases & Descriptions for Von Willebrand's Disease:

Name: Von Willebrand's Disease 12 24 14
Von Willebrand Disease 12 23 50 24 25 56 52 3 14 69
Von Willebrand Disorder 12 25 29
Vwd 50 24 3
Von Willebrand Factor Deficiency 23 24
Vascular Pseudohemophilia 12 25
Von Willebrand's Factor Deficiency 25
Von Willebrand's-Jurgens' Disease 12
Von Willebrand Factor, Deficiency 50
Hereditary Von Willebrand Disease 56
Von Willebrand-Jrgens Disease 12
Von Willebrand Diseases 42
Vascular Hemophilia 12
Angiohemophilia 25

Characteristics:

Orphanet epidemiological data:

56
von willebrand disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

GeneReviews:

23
Penetrance Vwd type 1 (ad). pathogenic variants resulting in plasma vwf levels lower than 25 iu/dl are mostly fully penetrant. those resulting in higher vwf levels are often incompletely penetrant...

Classifications:



External Ids:

Disease Ontology 12 DOID:12531
ICD10 33 D68.0 D69.8
ICD9CM 35 286.4
MeSH 42 D014842
NCIt 47 C68677
Orphanet 56 ORPHA903
ICD10 via Orphanet 34 D68.0
MESH via Orphanet 43 D014842
UMLS via Orphanet 70 C0042974
UMLS 69 C0042974

Summaries for Von Willebrand's Disease

NIH Rare Diseases : 50 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.   last updated: 8/17/2016

MalaCards based summary : Von Willebrand's Disease, also known as von willebrand disease, is related to von willebrand disease, type 1 and von willebrand disease, types 2a, 2b, 2m, and 2n, and has symptoms including abnormality of the mitral valve, abnormal platelet function and venous insufficiency. 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 Simvastatin and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include testes, endothelial and liver, and related phenotypes are hematopoietic system and homeostasis/metabolism

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.

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

Wikipedia : 71 Von Willebrand disease (vWD) (/ˌfʌnˈvɪlᵻbrɑːnt/) is the most common hereditary blood-clotting disorder... more...

GeneReviews: NBK7014

Related Diseases for Von Willebrand's Disease

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

(show top 50) (show all 131)
id Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 1 12.8
2 von willebrand disease, types 2a, 2b, 2m, and 2n 12.7
3 von willebrand disease, platelet-type 12.5
4 von willibrand disease, type 3 12.3
5 type 2b von willebrand disease 12.3
6 type 2n von willebrand disease 12.3
7 type 2a von willebrand disease 12.3
8 type 2m von willebrand disease 12.3
9 acquired von willebrand syndrome 11.5
10 trismus-pseudocamptodactyly syndrome 10.3 GP1BA VWF
11 vcl-related familial hypertrophic cardiomyopathy 10.3 F8 VWF
12 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 10.3 F8 VWF
13 high anorectal malformation 10.3 F8 VWF
14 headache 10.3 F8 VWF
15 pineal region meningioma 10.3 F8 VWF
16 small intestinal l-cell glucagon-like peptide producing tumor 10.2 F2 VWF
17 hemarthrosis 10.2 F2 F3
18 influenza 10.2 F2 F3
19 secretory diarrhea myopathy and deafness 10.2 F3 VWF
20 chorioretinal scar 10.2 F2 F3
21 mixed hepatoblastoma 10.2 F2 F3
22 social phobia 10.2 F2 F8
23 dmd-related dilated cardiomyopathy 10.2 F2 F3
24 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 10.2 F3 SELP
25 spinal cord lipoma 10.2 F2 F3
26 sporotrichosis 10.2 F2 F3
27 midline cystocele 10.2 F2 F3
28 chronic inflammatory demyelinating polyneuritis 10.2 F2 F3
29 autonomic neuropathy 10.2 F2 F8
30 seminoma 10.2 F2 F3
31 erythrocytosis, familial, 4 10.2 F5 F8
32 brain stem cancer 10.2 F2 F3
33 congenital insensitivity to pain with severe intellectual disability 10.2 F2 F5
34 subclavian artery aneurysm 10.2 F3 SELP
35 vascular erectile tumor 10.2 F2 F5
36 lubinsky syndrome 10.2 F2 F5
37 ductal carcinoma in situ 10.2 F2 F3
38 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.2 F2 F5
39 oxyphilic adenoma 10.2 F2 F5
40 left-right axis malformations 10.1 F2 F5
41 neuronopathy, distal hereditary motor, type iid 10.1 F3 F5
42 lymphocytic colitis 10.1 F2 F5
43 epstein-barr virus hepatitis 10.1 F2 F3 VWF
44 photosensitive epilepsy 10.1 F2 F5
45 hennekam lymphangiectasia-lymphedema syndrome 2 10.1 F2 F3 VWF
46 freiberg's disease 10.1 F2 F3 F8
47 spinocerebellar ataxia 27 10.1 F2 F3 F8
48 lupus erythematosus 10.1 F3 SELP VWF
49 ceroid lipofuscinosis, neuronal, 2 10.1 F2 SELP
50 stt3a-cdg and stt3b-cdg 10.1 F5 GP6

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:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the mitral valve 56 32 Frequent (79-30%) HP:0001633
2 abnormal platelet function 56 32 Very frequent (99-80%) HP:0011869
3 venous insufficiency 56 32 Occasional (29-5%) HP:0005293
4 abnormality of coagulation 56 32 Very frequent (99-80%) HP:0001928
5 deviation of finger 56 32 Occasional (29-5%) HP:0004097
6 abnormality of thrombocytes 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Von Willebrand's Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.91 ADAMTS13 F11 F2 F3 F8 GP1BA
2 homeostasis/metabolism MP:0005376 9.85 ADAMTS13 F11 F2 F3 F5 F8
3 immune system MP:0005387 9.56 ADAMTS13 F11 F2 F3 F8 GP6
4 mortality/aging MP:0010768 9.32 GP6 SELP STXBP5 VWF ADAMTS13 F11

Drugs & Therapeutics for Von Willebrand's Disease

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

(show top 50) (show all 160)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4 79902-63-9 54454
2
Aspirin Approved, Vet_approved Phase 4,Phase 1 50-78-2 2244
3
Eptifibatide Approved, Investigational Phase 4 188627-80-7 123610
4
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
5
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
6
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
7
Insulin Aspart Approved Phase 4 116094-23-6 16132418
8
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
9 Anticholesteremic Agents Phase 4
10 Antimetabolites Phase 4
11 Atorvastatin Calcium Phase 4 134523-03-8
12 Calcium, Dietary Phase 4,Phase 2
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
14 Hypolipidemic Agents Phase 4
15 Lipid Regulating Agents Phase 4
16 Arginine Vasopressin Phase 4,Phase 2,Phase 1
17 Coagulants Phase 4,Phase 2,Phase 3,Phase 1
18 Deamino Arginine Vasopressin Phase 4,Phase 2,Phase 1
19 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
20 Natriuretic Agents Phase 4,Phase 2,Phase 1
21 Vasopressins Phase 4,Phase 2,Phase 1
22 Platelet Aggregation Inhibitors Phase 4,Phase 1
23 insulin Phase 4,Phase 2
24 Insulin, Globin Zinc Phase 4,Phase 2
25 Antifibrinolytic Agents Phase 4,Phase 3
26 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
27 Factor VIII Phase 4,Phase 2,Phase 3,Phase 1
28 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
29 Biphasic Insulins Phase 4
30 Insulin aspart, insulin aspart protamine drug combination 30:70 Phase 4
31 Insulin, Isophane Phase 4
32 Protamines Phase 4
33 arginine Nutraceutical Phase 4,Phase 2,Phase 1
34
Tranexamic Acid Approved Phase 3 1197-18-8 5526
35
Glimepiride Approved Phase 3 93479-97-1 3476
36
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
37
Liraglutide Approved Phase 3 204656-20-2
38
Hydroxyurea Approved Phase 3 127-07-1 3657
39
Rifaximin Approved, Investigational Phase 3 80621-81-4 6436173
40 Anti-Arrhythmia Agents Phase 3
41 Immunosuppressive Agents Phase 3
42 Dipeptidyl-Peptidase IV Inhibitors Phase 3
43 HIV Protease Inhibitors Phase 3
44 Hormone Antagonists Phase 3,Phase 2
45 Hormones Phase 3,Phase 2
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
47 Incretins Phase 3
48
protease inhibitors Phase 3
49 Sitagliptin Phosphate Phase 3
50 Anti-Infective Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 142)
id Name Status NCT ID Phase
1 Oxidative Stress Lowering Effect of Simvastatin and Atorvastatin. Unknown status NCT00404599 Phase 4
2 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4
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
4 Clinical Effects of Eptifibatide Administration in High Risk Patients Presenting With Non-ST Segment Elevation Acute Coronary Syndrome (NSTE-ACS) Requiring Urgent Coronary Artery Bypass Graft Surgery in Short- and Long-Term Follow-up Completed NCT01863134 Phase 4
5 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4
6 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
7 Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and Diet Completed NCT00118937 Phase 4
8 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4
9 Efficacy and Safety of DLBS1033 in Subjects With Type 2 Diabetes Mellitus Completed NCT01865474 Phase 4
10 Effect of Repaglinide Versus Metformin Treatment in Non-Obese Patients With Type-2-Diabetes Completed NCT00118963 Phase 4
11 Efficacy and Safety of Fanhdi®, a High-purity Von Willebrand Containing FVIII Concentrate, in Pediatric Patients With Von Willebrand Disease Recruiting NCT02472665 Phase 4
12 Study of Voncento® in Subjects With Von Willebrand Disease Recruiting NCT02552576 Phase 4
13 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Recruiting NCT00555555 Phase 4
14 Safety/Efficacy Study to Assess Whether FVIII/VWF Concentrate Can Induce Immune Tolerance in Haemophilia A Patients Recruiting NCT02479087 Phase 4
15 DDAVP vs. Exercise Not yet recruiting NCT03136003 Phase 4
16 Study of Biostate® in Children With Von Willebrand Disease Completed NCT01213446 Phase 3
17 Extension Study of Biostate in Subjects With Von Willebrand Disease Completed NCT01224808 Phase 3
18 Study of a pd VWF/FVIII Concentrate, Biostate®, in Subjects With Von Willebrand Disease Completed NCT00941616 Phase 2, Phase 3
19 Recombinant Von Willebrand Factor in Subjects With Severe Von Willebrand Disease Undergoing Surgery Completed NCT02283268 Phase 3
20 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
21 Wilate in Subjects With Von Willebrand Disease Who Undergo Surgery Completed NCT01365546 Phase 3
22 A Study to Compare the Pharmacokinetics and Safety of Current Factor VIII Concentrate and Optivate® in Haemophilia A. Completed NCT02246881 Phase 3
23 Early Versus Delayed Enteral Feeding to Treat People With Acute Lung Injury or Acute Respiratory Distress Syndrome (The EDEN Study) Completed NCT00883948 Phase 3
24 Study of Biostate® in Children With Hemophilia A Completed NCT01229007 Phase 3
25 Efficacy of Pioglitazone/Metformin Combination Therapy in Subjects With Type 2 Diabetes Mellitus and Dyslipidemia. Completed NCT00770653 Phase 3
26 The Effect of Liraglutide Compared to Sitagliptin, Both in Combination With Metformin on Glycaemic Control in Subjects With Type 2 Diabetes Mellitus Completed NCT00700817 Phase 3
27 Prevention of Hemorrhage After Implantation of Mechanical Circulatory Support Recruiting NCT02488525 Phase 3
28 Clinical Study to Investigate the PK, Efficacy, and Safety of Wilate in Patients With Severe Hemophilia A Recruiting NCT02954575 Phase 3
29 Novel Use Of Hydroxyurea in an African Region With Malaria Active, not recruiting NCT01976416 Phase 3
30 Minimize Menorrhagia in Women With Type 1 Von Willebrand Disease Not yet recruiting NCT02606045 Phase 3
31 rVWF IN PROPHYLAXIS Not yet recruiting NCT02973087 Phase 3
32 BAX 111 rVWF in Pediatrics Not yet recruiting NCT02932618 Phase 3
33 Two Strategies of Primary Prophylaxis of Spontaneous Bacterial Peritonitis in Severe Cirrhotic Patients With Ascites Not yet recruiting NCT03069131 Phase 3
34 Optivate in People With Von Willebrand Disease Undergoing Surgery Terminated NCT00404300 Phase 3
35 A Study With OPTIVATE® in People With Von Willebrand Disease Terminated NCT00387192 Phase 3
36 Study of Biostate for Treatment of Children With Hemophilia A Complicated by Antibody Development Terminated NCT01445197 Phase 3
37 Early Versus Delayed Enteral Feeding and Omega-3 Fatty Acid/Antioxidant Supplementation for Treating People With Acute Lung Injury or Acute Respiratory Distress Syndrome (The EDEN-Omega Study) Terminated NCT00609180 Phase 3
38 The Use of Rituximab in Acute Thrombotic Thrombocytopenic Purpura (TTP) Unknown status NCT00937131 Phase 2
39 Phase II Study of IL-11 (Neumega) in Von Willebrand Disease Completed NCT00151125 Phase 2
40 IL-11 in Women With Von Willebrand Disease and Refractory Menorrhagia Completed NCT00524342 Phase 2
41 A Study to Compare the Pharmacokinetics and Safety of Optivate® and Haemate P® in Patients With Von Willebrand Disease. Completed NCT02250508 Phase 2
42 Efficacy and Safety of IL-11 in DDAVP Unresponsive Completed NCT00994929 Phase 2
43 ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2
44 Study of a pd vWF/FVIII, Biostate®, in Subjects With Haemophilia A Completed NCT00879541 Phase 2
45 Early Insulin and Development of ARDS Completed NCT00605696 Phase 2
46 Study to Assess Efficacy and Safety of Anti-von Willebrand Factor Nanobody in Patients With Acquired Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT01151423 Phase 2
47 Comparison of Two Methods of High Frequency Oscillatory Ventilation in Individuals With Acute Respiratory Distress Syndrome Completed NCT00399581 Phase 2
48 Perioperative Use of Desmopressin (DDAVP) in Breast Cancer Completed NCT01606072 Phase 2
49 A Phase II Randomized Trial of Fish Oil in Patients With Acute Lung Injury (ALI) Completed NCT00351533 Phase 2
50 Alphanate in Immune Tolerance Induction Therapy Recruiting NCT03095287 Phase 2

Search NIH Clinical Center for Von Willebrand's Disease

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: von willebrand diseases

Genetic Tests for Von Willebrand's Disease

Genetic tests related to Von Willebrand's Disease:

id Genetic test Affiliating Genes
1 Von Willebrand Disorder 29
2 Von Willebrand Disease 24 VWF

Anatomical Context for Von Willebrand's Disease

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

39
Testes, Endothelial, Liver, Bone, Colon, Bone Marrow, Prostate

Publications for Von Willebrand's Disease

Articles related to Von Willebrand's Disease:

(show top 50) (show all 536)
id Title Authors Year
1
Von Willebrand's Disease. ( 28207207 )
2017
2
Von Willebrand's Disease. ( 28199817 )
2017
3
Heavy menstrual bleeding and health-associated quality of life in women with von Willebrand's disease. ( 27168829 )
2016
4
Von Willebrand's Disease. ( 27959741 )
2016
5
Pseudotumour of the Mandible Associated with von Willebrand's Disease. ( 25848151 )
2015
6
Peri-operative DDAVP Use Leading to Severe Hyponatremia after Total Shoulder Replacement in a Patient with von Willebrand's Disease. ( 26981062 )
2015
7
Congenital Type III von Willebrand's disease unmasked by hypothyroidism in a Shetland sheepdog. ( 26347307 )
2015
8
Complications After TKA in Patients With Hemophilia or Von Willebrand's Disease. ( 26143236 )
2015
9
Angioectasias on the major and accessory duodenal papillae; a unique cause of recurrent bleed in a patient with von Willebrand's disease. ( 26584905 )
2015
10
Valvular aortic stenosis causing angiodysplasia and acquired von Willebrand's disease: Heyde's syndrome. ( 24686797 )
2014
11
Acquired von Willebrand's disease associated with epithelial myoepithelial carcinoma of the parotid salivary gland. ( 25096657 )
2014
12
Spectrum of Von Willebrand's disease in Punjab: clinical features and types. ( 25672167 )
2014
13
Successful management of bilateral total hip replacement in a patient with von Willebrand's disease and developmental hip dysplasia. ( 23731269 )
2013
14
Chronic subdural non traumatic hematoma associated with von Willebrand's disease: a real clinical association or just a mere coincidence? ( 23276476 )
2013
15
Clinical profile of the association of P.R1205h and P.R924q in a patient with von Willebrand's disease. ( 23490306 )
2013
16
MASAC Consensus Conference: impediments to conducting clinical research in persons with haemophilia, von Willebrand's disease and rare bleeding disorders. ( 23051635 )
2013
17
Congenital von Willebrand's disease and clinical hypothyroidism. ( 23171382 )
2013
18
von Willebrand's disease in Mexico: a pilot study. ( 22989112 )
2013
19
Perioperative Management of Type 2N Von Willebrand's Disease with Recombinant Factor VIII in a Patient Undergoing Knee-Replacement Surgery. ( 23431487 )
2013
20
Mayer-Rokitansky-Kuster-Hauser syndrome with type 3 von Willebrand's disease: a case report and review of literature. ( 23167253 )
2013
21
Prophylactic efficacy and pharmacokinetically guided dosing of a von Willebrand factor/factor VIII concentrate in adults and children with von Willebrand's disease undergoing elective surgery: a pooled and comparative analysis of data from USA and European Union clinical trials. ( 23736911 )
2013
22
Tamoxifen for recurrent bleeds due to angiodysplasia in von Willebrand's disease. ( 23731407 )
2013
23
Prophylaxis in severe forms of von Willebrand's disease: results from the von Willebrand Disease Prophylaxis Network (VWD PN). ( 22823000 )
2013
24
Acquired von Willebrand's disease in myelofibrosis and essential thrombocythemia. ( 23590694 )
2013
25
Similarity in joint function limitation in Type 3 von Willebrand's disease and moderate haemophilia A. ( 23534856 )
2013
26
Consequences of delayed therapy for sports-related bleeds in patients with mild-to-moderate haemophilia and type 3 von Willebrand's disease not on prophylaxis. ( 23647798 )
2013
27
A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy. ( 22875612 )
2013
28
The group medical appointment (GMA) in haemophilia and von Willebrand's disease: a new development in outpatient paediatric care. ( 22458923 )
2012
29
Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation. ( 22207689 )
2012
30
Treatment of haemophilia A and B and von Willebrand's disease: summary and conclusions of a systematic review as part of a Swedish health-technology assessment. ( 22151198 )
2012
31
Large psoas haematoma and femoral neuropathy in a patient with type 2B von Willebrand's disease. ( 23005922 )
2012
32
Platelet inhibition and bleeding complications in patients with haemophilia/von Willebrand's disease and coronary artery disease. ( 22757775 )
2012
33
C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance. ( 21592258 )
2012
34
Memories of my research into von Willebrand's disease. ( 22188572 )
2012
35
Treatment of Hodgkin's lymphoma in a patient with type III von Willebrand's disease. ( 22757977 )
2012
36
Reply to von Willebrand's disease and postpartum haemorrhage by Chee et al. ( 23106945 )
2012
37
Non-thrombotic-, non-inhibitor-associated adverse reactions to coagulation factor concentrates for treatment of patients with hemophilia and von Willebrand's disease: a systematic review of prospective studies. ( 22250981 )
2012
38
Von Willebrand's disease following aortic valve replacement. ( 22808848 )
2012
39
von Willebrand's disease: a report from a meeting in the A8land islands. ( 22906074 )
2012
40
Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis. ( 21371195 )
2011
41
Use of 1-desamino-8-D-arginine vasopressin in microsurgical reconstruction in a patient with von Willebrand's disease. ( 21298724 )
2011
42
Successful treatment of an injury bleeding on a patient suffering from mild von Willebrand's disease and predisposition to allergic diseases, with recombinant factor VIIA. ( 21070492 )
2011
43
The power of a standardized bleeding score in diagnosing paediatric type 1 von Willebrand's disease and platelet function defects. ( 20860605 )
2011
44
High-resolution imaging of multimers can detect von Willebrand's disease type 2A even if ristocetin cofactor is higher than von Willebrand antigen. ( 21070489 )
2011
45
Presurgical pharmacokinetic analysis of a von Willebrand factor/factor VIII (VWF/FVIII) concentrate in patients with von Willebrand's disease (VWD) has limited value in dosing for surgery. ( 21689209 )
2011
46
Ovarian hyperstimulation syndrome associated with von Willebrand's disease. ( 21791311 )
2011
47
Clinical efficacy and safety of the factor VIII/von Willebrand factor concentrate BIOSTATE in patients with von Willebrand's disease: a prospective multi-centre study. ( 20331755 )
2010
48
Clinical use of Haemate-P in inherited von Willebrand's disease: a patient with type 3 VWD and recurrent menometrorrhagia. ( 20059558 )
2010
49
von Willebrand's disease diagnosis and laboratory issues. ( 20590859 )
2010
50
Haemophilia A and von Willebrand's disease. ( 20590861 )
2010

Variations for Von Willebrand's Disease

ClinVar genetic disease variations for Von Willebrand's Disease:

6
id 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

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 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 F11 F2 F3 F5 F8 GP1BA
2
Show member pathways
12.49 F11 F2 F3 F5 F8
3
Show member pathways
11.92 F2 GP6 SELP
4
Show member pathways
11.83 GP1BA GP6 VWF
5 11.72 GP1BA GP6 VWF
6
Show member pathways
11.6 F2 GP1BA VWF
7 11.58 F11 F2 F3 F5 F8 VWF
8
Show member pathways
11.43 F11 F2 F3 F5 F8 GP1BA
9 11.21 F2 GP6 VWF
10 10.55 GP1BA GP6 VWF
11 10.4 GP1BA VWF

GO Terms for Von Willebrand's Disease

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 F11 F2 F3 F5 F8 GP1BA
2 extracellular region GO:0005576 9.91 ADAMTS13 F11 F2 F3 F5 F8
3 cell surface GO:0009986 9.73 ADAMTS13 F3 GP1BA GP6
4 endoplasmic reticulum lumen GO:0005788 9.46 ADAMTS13 F2 F5 F8
5 ER to Golgi transport vesicle GO:0030134 9.4 F5 F8
6 platelet alpha granule GO:0031091 9.26 F5 VWF
7 extracellular space GO:0005615 9.17 ADAMTS13 F11 F2 F3 F5 F8
8 platelet alpha granule lumen GO:0031093 9.13 F5 F8 VWF

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.8 ADAMTS13 F11 F2 F5 F8
2 platelet activation GO:0030168 9.7 ADAMTS13 F2 F5 F8 GP1BA GP6
3 platelet degranulation GO:0002576 9.67 F5 F8 SELP VWF
4 leukocyte migration GO:0050900 9.65 F2 GP6 SELP
5 blood coagulation, intrinsic pathway GO:0007597 9.65 F11 F2 F8 GP1BA VWF
6 ER to Golgi vesicle-mediated transport GO:0006888 9.63 F2 F5 F8
7 regulation of blood coagulation GO:0030193 9.62 F11 F2 GP1BA STXBP5
8 blood coagulation GO:0007596 9.61 ADAMTS13 F11 F2 F3 F5 F8
9 acute-phase response GO:0006953 9.49 F2 F8
10 fibrinolysis GO:0042730 9.43 F2 GP1BA
11 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:

id Name GO ID Score Top Affiliating Genes
1 lipopolysaccharide binding GO:0001530 9.16 F2 SELP
2 heparin binding GO:0008201 9.13 F11 F2 SELP
3 serine-type endopeptidase activity GO:0004252 9.02 F11 F2 F3 F5 F8

Sources for Von Willebrand's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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