MCID: VNW001
MIFTS: 61

Von Willebrand's Disease

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

Aliases & Classifications for Von Willebrand's Disease

MalaCards integrated aliases for Von Willebrand's Disease:

Name: Von Willebrand's Disease 12 14
Von Willebrand Disease 12 72 23 49 24 55 51 3 59 69
Von Willebrand Disorder 12 24 28
Vascular Pseudohemophilia 12 24
Vwd 49 3
Von Willebrand's Factor Deficiency 24
Von Willebrand's-Jurgens' Disease 12
Von Willebrand Factor, Deficiency 49
Hereditary Von Willebrand Disease 55
Von Willebrand Factor Deficiency 23
Von Willebrand-Jrgens Disease 12
Von Willebrand Diseases 41
Vascular Hemophilia 12
Angiohemophilia 24

Characteristics:

Orphanet epidemiological data:

55
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 Type 1 vwd (ad)...

Classifications:



External Ids:

Disease Ontology 12 DOID:12531
ICD10 32 D68.0 D69.8
ICD9CM 34 286.4
MeSH 41 D014842
NCIt 46 C68677
Orphanet 55 ORPHA903
MESH via Orphanet 42 D014842
UMLS via Orphanet 70 C0042974
ICD10 via Orphanet 33 D68.0
UMLS 69 C0042974

Summaries for Von Willebrand's Disease

PubMed Health : 59
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, and has symptoms including abnormality of coagulation, deviation of finger 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 Factor VIII and Arginine Vasopressin have been mentioned in the context of this disorder. Affiliated tissues include testes, endothelial and liver, and related phenotypes are hematopoietic system and cardiovascular system

NIH Rare Diseases : 49 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

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

Genetics Home Reference : 24 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.

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.

Wikipedia : 72 Von Willebrand disease (vWD) (/ˌfʌnˈvɪlɪbrɑːnt/), discovered by Erik Adolf von Willebrand, is the most... 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 145)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 2 35.2 F8 VWF
2 pseudo-von willebrand disease 34.9 GP1BA VWF
3 von willebrand disease, type 3 34.7 F8 GP1BA VWF
4 von willebrand disease, type 1 34.2 F2 F3 F8 VWF
5 acquired von willebrand syndrome 31.7 F11 F8 F9 GP1BA VWF
6 hemophilia 28.8 F2 F3 F8 F9 VWF
7 hemophilia a 28.7 F3 F5 F8 F9 VWF
8 thrombosis 28.0 F2 F3 F5 F9 GP1BA SELP
9 hemorrhagic disease 26.8 ADAMTS13 F11 F2 F3 F5 F8
10 von willebrand disease, x-linked form 12.2
11 mild hemophilia a 10.5 F8 VWF
12 fainting 10.5 F8 VWF
13 cerebral arteritis 10.5 F8 VWF
14 bombay phenotype 10.4 ADAMTS13 VWF
15 angina pectoris 10.4 F3 VWF
16 active peptic ulcer disease 10.4 F2 VWF
17 lymphangiosarcoma 10.4 F8 VWF
18 cerebral falx meningioma 10.4 F2 F3
19 multicentric castleman disease 10.4 F3 F8
20 intestinal impaction 10.4 F2 F3
21 platelet aggregation, spontaneous 10.4 SELP VWF
22 leech infestation 10.4 F2 F3
23 giant hemangioma 10.4 F2 F3
24 vitamin k deficiency hemorrhagic disease 10.4 F2 F8
25 autoimmune disease of blood 10.4 ADAMTS13 VWF
26 blue toe syndrome 10.4 F2 F3
27 intracranial embolism 10.4 F2 F3
28 femoral neuropathy 10.3 F2 F3
29 hantavirus pulmonary syndrome 10.3 F2 F3
30 anterior cranial fossa meningioma 10.3 F2 F3
31 heparin-induced thrombocytopenia 10.3 F3 SELP
32 marantic endocarditis 10.3 F2 F3
33 splenic disease 10.3 F2 F3
34 severe hemophilia b 10.3 F8 F9
35 purpura fulminans 10.3 F2 F3
36 hepatic infarction 10.3 F2 F3
37 factor v and factor viii, combined deficiency of, 2 10.3 F5 F8
38 carotid artery thrombosis 10.3 F3 SELP
39 spotted fever 10.3 F2 VWF
40 compartment syndrome 10.3 F2 F8
41 squamous cell papilloma 10.3 F2 F3
42 coronary thrombosis 10.3 F3 GP1BA VWF
43 hemorrhagic fever 10.3 F2 F3
44 paracetamol poisoning 10.3 F2 F5
45 spinal cord infarction 10.2 F2 F5
46 livedoid vasculopathy 10.2 F2 F5
47 sudden sensorineural hearing loss 10.2 F2 F5
48 branch retinal artery occlusion 10.2 F2 F3
49 hemoglobin e disease 10.2 F2 F5
50 carotid artery occlusion 10.2 F5 F8

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:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of coagulation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001928
2 deviation of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004097
3 venous insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0005293
4 abnormal platelet function 55 31 hallmark (90%) Very frequent (99-80%) HP:0011869
5 abnormality of the mitral valve 55 Frequent (79-30%)
6 abnormality of thrombocytes 55 Very frequent (99-80%)
7 abnormal mitral valve morphology 31 frequent (33%) HP:0001633

MGI Mouse Phenotypes related to Von Willebrand's Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.91 F9 ADAMTS13 GP1BA F11 SELP F2
2 cardiovascular system MP:0005385 9.87 F9 F11 SELP F2 VWF F3
3 homeostasis/metabolism MP:0005376 9.85 F9 ADAMTS13 GP1BA F11 SELP F2
4 immune system MP:0005387 9.56 F9 ADAMTS13 F11 SELP F2 VWF
5 mortality/aging MP:0010768 9.32 F9 ADAMTS13 F11 SELP STXBP5 F2

Drugs & Therapeutics for Von Willebrand's Disease

PubMedHealth treatment related to Von Willebrand's Disease: 59

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 13)
# 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
3 Coagulants Phase 4,Phase 2,Phase 3,Phase 1
4 Deamino Arginine Vasopressin Phase 4,Phase 2
5 Hemostatics Phase 4,Phase 3,Phase 2
6 Natriuretic Agents Phase 4,Phase 2
7 Vasopressins Phase 4,Phase 2
8 arginine Nutraceutical Phase 4,Phase 2
9
Tranexamic Acid Approved Phase 3 1197-18-8 5526
10 Pharmaceutical Solutions Phase 3
11 Antifibrinolytic Agents Phase 3
12
Oprelvekin Approved, Investigational Phase 2 145941-26-0
13
Thrombin Approved, Investigational

Interventional clinical trials:

(show all 50)

# 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 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 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
29 Gingival Bleeding and Von Willebrand Disease Typ 2 and 3 Completed NCT03078595
30 National Study of Moderate and Severe Von Willebrand Disease in the Netherlands Completed NCT00510042
31 The Von Willebrand Disease (VWD) International Prophylaxis Study Completed NCT00557908 VWF/FVIII products
32 Study on Von Willebrand Disease and Hemophilia in Cuenca, Ecuador Completed NCT01589848
33 Surveillance of Safety and Efficacy of Wilate in Patients With Von Willebrand Disease Completed NCT01602419
34 A Canadian Study to Assess the Safety of Humate-P® Ivr (Infusion Volume Reduced) Completed NCT00701545
35 Acquired Von Willebrand Syndrome in Severe Aortic Stenosis Completed NCT00805051
36 Treatment and Management of Women With Bleeding Disorders Completed NCT00111215 Tranexamic Acid;Desmopressin Acetate
37 The Use of Cyclokapron for Treatment and Management of Women With Bleeding Disorders Completed NCT00697385 Cyclokapron
38 Investigating a Von Willebrand Factor (VWF) Functional Screening Assay for Assigning the Phenotypic Variants of Von Willebrand Disease (VWD) Recruiting NCT02466789
39 Molecular and Clinical Profile of Von Willebrand Disease in Spain Recruiting NCT02869074
40 Global Hemostatic Methods in Hemophilia and Von Willebrand's Disease Recruiting NCT02061033
41 Low VW Activity in Adolescent HMB Recruiting NCT02933411
42 Low Von Willebrand in Ireland Cohort Study Recruiting NCT03167320
43 Type 3 Von Willebrand International Registries Inhibitor Prospective Study Active, not recruiting NCT02460458
44 Prevalence, Risk Factors and Consequences Related to Cesarean Scar Defect (Defect in Cesarean Scar) Active, not recruiting NCT02717312
45 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
46 Frequency of Hemorrhages Associated With the Functional Anomalies of Willebrand Factor in Emergency Patients Not yet recruiting NCT03070912
47 Change in Thrombin Generation Potential and Thromboelastography During the Menstrual Cycle Terminated NCT00178542
48 Collection of Blood in Normal Subjects and Subjects With Von Willebrand Disease (VWD) Withdrawn NCT00630448
49 Changes in Bleeding and Clotting During the Menstrual Cycle Withdrawn NCT00480545
50 The Effect of the Nutraceutical "Hemofix" on the Coagulation System Withdrawn NCT01651468

Search NIH Clinical Center for Von Willebrand's Disease

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: von willebrand diseases

Genetic Tests for Von Willebrand's Disease

Genetic tests related to Von Willebrand's Disease:

# Genetic test Affiliating Genes
1 Von Willebrand Disorder 28

Anatomical Context for Von Willebrand's Disease

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

38
Testes, Endothelial, Liver, Bone Marrow, Bone, Colon, Prostate

Publications for Von Willebrand's Disease

Articles related to Von Willebrand's Disease:

(show top 50) (show all 1130)
# Title Authors Year
1
Lenalidomide as a novel therapy for gastrointestinal angiodysplasia in von Willebrand disease. ( 29446520 )
2018
2
von Willebrand disease and extra-intestinal angiodysplasia. ( 28574209 )
2017
3
Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue. ( 28640903 )
2017
4
Application of a strain rate gradient microfluidic device to von Willebrand's disease screening. ( 28660968 )
2017
5
Diagnosis and management of patients with von Willebrand's disease in Italy: an Expert Meeting Report. ( 28686158 )
2017
6
Outcome of laparoscopic ovariohysterectomy or ovariectomy in dogs with von Willebrand disease or factor VII deficiency: 20 cases (2012-2014). ( 29035661 )
2017
7
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
8
Revascularization Operation for Moyamoya Disease with Concurrent von Willebrand Disease. ( 28866059 )
2017
9
Plasma levels of plasminogen activator inhibitor-1 and bleeding phenotype in patients with von Willebrand disease. ( 28306198 )
2017
10
Type 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia. ( 28060120 )
2017
11
Von Willebrand's disease: case report and review of literature. ( 28904675 )
2017
12
Management of Type 2B von Willebrand Disease during Pregnancy. ( 28118618 )
2017
13
Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice. ( 28581694 )
2017
14
Von Willebrand's Disease. ( 28207207 )
2017
15
Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease. ( 28436749 )
2017
16
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
17
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
18
Angiodysplasia in von Willebrand Disease: Understanding the Clinical and Basic Science. ( 28476066 )
2017
19
Von Willebrand's Disease. ( 28199817 )
2017
20
The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype. ( 27889474 )
2017
21
Clinical and laboratory phenotype variability in type 2M von Willebrand disease. ( 28544236 )
2017
22
Management of type 2b von Willebrand disease in the neonatal period. ( 27468167 )
2016
23
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
24
Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality. ( 27148840 )
2016
25
Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism. ( 27317792 )
2016
26
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm. ( 26245874 )
2016
27
Heavy menstrual bleeding and health-associated quality of life in women with von Willebrand's disease. ( 27168829 )
2016
28
Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review-a commentary. ( 27422427 )
2016
29
Human von Willebrand factor/factor VIII concentrates in the management of pediatric patients with von Willebrand disease/hemophilia A. ( 27445481 )
2016
30
Von Willebrand's Disease. ( 27959741 )
2016
31
Type 2M and Type 2A von Willebrand Disease: Similar but Different. ( 27148841 )
2016
32
Type 2M von Willebrand disease - more often misidentified than correctly identified. ( 27029718 )
2016
33
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )
2016
34
Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid-Dependent Pseudothrombocytopenia. ( 27215777 )
2016
35
Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease. ( 26639996 )
2016
36
Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review. ( 26210168 )
2016
37
Genetic diagnosis in hemophilia and von Willebrand disease. ( 27596108 )
2016
38
Genotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B. ( 27353798 )
2016
39
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
40
Phenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation. ( 27978591 )
2016
41
Endothelial dysfunction in von Willebrand disease: angiogenesis and angiodysplasia. ( 27207426 )
2016
42
Complications After TKA in Patients With Hemophilia or Von Willebrand's Disease. ( 26143236 )
2015
43
Angioectasias on the major and accessory duodenal papillae; a unique cause of recurrent bleed in a patient with von Willebrand's disease. ( 26584905 )
2015
44
von Willebrand factor propeptide and the phenotypic classification of von Willebrand disease. ( 25673639 )
2015
45
Changes in von Willebrand factor level and von Willebrand activity with age in type 1 von Willebrand disease. ( 25756206 )
2015
46
CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease. ( 25832887 )
2015
47
Congenital Type III von Willebrand's disease unmasked by hypothyroidism in a Shetland sheepdog. ( 26347307 )
2015
48
Force-induced on-rate switching and modulation by mutations in gain-of-function von Willebrand diseases. ( 25810255 )
2015
49
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
50
Apoptotic Platelet Events Are Not Observed in Severe von Willebrand Disease-Type 2B Mutation p.V1316M. ( 26645283 )
2015

Variations for Von Willebrand's Disease

ClinVar genetic disease variations for Von Willebrand's Disease:

6
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 F11 F2 F3 F5 F8 F9
2
Show member pathways
12.46 F11 F2 F3 F5 F8 F9
3 11.64 F11 F2 F3 F5 F8 F9
4
Show member pathways
11.54 F2 GP1BA VWF
5
Show member pathways
11.43 F11 F2 F3 F5 F8 F9
6 10.61 F2 F9
7 10.52 GP1BA VWF
8 10.32 GP1BA VWF

GO Terms for Von Willebrand's Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.76 ADAMTS13 F11 F2 F3 F5 F8
2 platelet alpha granule lumen GO:0031093 9.43 F5 F8 VWF
3 COPII-coated ER to Golgi transport vesicle GO:0030134 9.4 F5 F8
4 endoplasmic reticulum lumen GO:0005788 9.35 ADAMTS13 F2 F5 F8 F9
5 platelet alpha granule GO:0031091 9.32 F5 VWF
6 extracellular space GO:0005615 9.23 ADAMTS13 F11 F2 F3 F5 F8
7 plasma membrane GO:0005886 10.02 F11 F2 F3 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 platelet activation GO:0030168 9.72 ADAMTS13 F2 F8 GP1BA VWF
2 ER to Golgi vesicle-mediated transport GO:0006888 9.71 F2 F5 F8 F9
3 platelet degranulation GO:0002576 9.67 F5 F8 SELP 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 regulation of blood coagulation GO:0030193 9.56 F11 F2 GP1BA STXBP5
7 acute-phase response GO:0006953 9.51 F2 F8
8 fibrinolysis GO:0042730 9.49 F2 GP1BA
9 signal peptide processing GO:0006465 9.48 F2 F9
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 peptidase activity GO:0008233 9.56 ADAMTS13 F11 F2 F9
2 heparin binding GO:0008201 9.33 F11 F2 SELP
3 lipopolysaccharide binding GO:0001530 9.32 F2 SELP
4 serine-type peptidase activity GO:0008236 9.13 F11 F2 F9
5 serine-type endopeptidase activity GO:0004252 8.92 F11 F2 F3 F9

Sources for Von Willebrand's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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