VWD1
MCID: VNW005
MIFTS: 49

Von Willebrand Disease, Type 1 (VWD1) malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Von Willebrand Disease, Type 1

Aliases & Descriptions for Von Willebrand Disease, Type 1:

Name: Von Willebrand Disease, Type 1 54 13 42 69
Von Willebrand Disease Type I 12 24 66
Von Willebrand Disease Type 1 12 56
Von Willebrand Disease 1 66 29
Vwd1 12 66
Von Willebrand Factor Deficiency Type 1 66
Type 1 Von Willebrand Disease 24
Von Willebrand's Disease 1 12
Vwd Type 1 12

Characteristics:

Orphanet epidemiological data:

56
von willebrand disease type 1
Inheritance: Autosomal dominant; Age of onset: All ages;

HPO:

32
von willebrand disease, type 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 54 193400
Disease Ontology 12 DOID:0060573
ICD10 33 D68.0
MeSH 42 D056725
Orphanet 56 ORPHA166078
MESH via Orphanet 43 D056725
UMLS via Orphanet 70 C1264039
ICD10 via Orphanet 34 D68.0
MedGen 40 C1264039

Summaries for Von Willebrand Disease, Type 1

OMIM : 54 Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous... (193400) more...

MalaCards based summary : Von Willebrand Disease, Type 1, also known as von willebrand disease type i, is related to von willebrand disease, types 2a, 2b, 2m, and 2n and von willebrand's disease, and has symptoms including gastrointestinal angiodysplasia, mitral valve prolapse and gastrointestinal hemorrhage. An important gene associated with Von Willebrand Disease, Type 1 is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Metformin and Insulin Aspart have been mentioned in the context of this disorder. Affiliated tissues include whole blood, and related phenotypes are hematopoietic system and homeostasis/metabolism

Disease Ontology : 12 A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 66 von Willebrand disease 1: A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.

Related Diseases for Von Willebrand Disease, Type 1

Diseases related to Von Willebrand Disease, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
id Related Disease Score Top Affiliating Genes
1 von willebrand disease, types 2a, 2b, 2m, and 2n 11.1
2 von willebrand's disease 10.9
3 vcl-related familial hypertrophic cardiomyopathy 10.2 F8 VWF
4 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 10.2 F8 VWF
5 high anorectal malformation 10.2 F8 VWF
6 headache 10.2 F8 VWF
7 vcl-related dilated cardiomyopathy 10.2 F8 VWF
8 acromegaloid hypertrichosis syndrome 10.2 F8 VWF
9 small intestinal l-cell glucagon-like peptide producing tumor 10.2 F2 VWF
10 pineal region meningioma 10.2 F8 VWF
11 renal adenoma 10.1 F8 VWF
12 social phobia 10.1 F2 F8
13 pulpitis 10.1 F2 VWF
14 autonomic neuropathy 10.1 F2 F8
15 bullous skin disease 10.1 F2 F8
16 neuroaxonal dystrophy 10.1 F2 F8
17 lynch syndrome 10.1 F2 F8
18 infiltrating ureter transitional cell carcinoma 10.1 F2 F8
19 xerophthalmia 10.1 F2 VWF
20 secretory diarrhea myopathy and deafness 10.1 F3 VWF
21 hemarthrosis 10.1 F2 F3
22 acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia 10.1 F3 F8
23 influenza 10.1 F2 F3
24 pancreatic ductal carcinoma 10.1 F2 F3
25 acrodysplasia scoliosis 10.1 F3 F8
26 chorioretinal scar 10.1 F2 F3
27 hendra virus infection 10.1 F2 F3
28 mixed hepatoblastoma 10.1 F2 F3
29 dmd-related dilated cardiomyopathy 10.1 F2 F3
30 spinal cord lipoma 10.1 F2 F3
31 ischemic optic neuropathy 10.1 F2 VWF
32 sporotrichosis 10.1 F2 F3
33 midline cystocele 10.1 F2 F3
34 chronic inflammatory demyelinating polyneuritis 10.1 F2 F3
35 seminoma 10.1 F2 F3
36 lupus erythematosus 10.1 F3 VWF
37 brain stem cancer 10.1 F2 F3
38 septic myocarditis 10.1 F3 VWF
39 inherited blood coagulation disease 10.1 F3 F8
40 ductal carcinoma in situ 10.1 F2 F3
41 multiple mitochondrial dysfunctions syndrome 10.1 F3 F8
42 blepharoconjunctivitis 10.1 F2 F3
43 intestinal disaccharidase deficiency 10.1 F2 F3
44 mobitz type ii atrioventricular block 10.1 F2 F3
45 hemophilia a 10.1
46 hemophilia 10.1
47 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 10.1 F2 F3
48 artery disease 10.1 F2 F3
49 red color blindness 10.0 F2 F3
50 hereditary alpha tryptasemia syndrome 10.0 F2 F3

Graphical network of the top 20 diseases related to Von Willebrand Disease, Type 1:



Diseases related to Von Willebrand Disease, Type 1

Symptoms & Phenotypes for Von Willebrand Disease, Type 1

Symptoms by clinical synopsis from OMIM:

193400

Clinical features from OMIM:

193400

Human phenotypes related to Von Willebrand Disease, Type 1:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 gastrointestinal angiodysplasia 32 HP:0000471
2 mitral valve prolapse 32 HP:0001634
3 gastrointestinal hemorrhage 32 HP:0002239
4 epistaxis 32 HP:0000421
5 bruising susceptibility 32 HP:0000978
6 prolonged bleeding time 32 HP:0003010
7 menorrhagia 32 HP:0000132
8 aortic valve stenosis 32 HP:0001650
9 reduced factor viii activity 32 HP:0003125
10 impaired platelet aggregation 32 HP:0003540
11 joint hemorrhage 32 HP:0005261
12 prolonged whole-blood clotting time 32 HP:0005542

MGI Mouse Phenotypes related to Von Willebrand Disease, Type 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.55 F2 F3 F8 GP6 VWF
2 homeostasis/metabolism MP:0005376 9.35 F2 F3 F8 GP6 VWF
3 immune system MP:0005387 9.02 GP6 VWF F2 F3 F8

Drugs & Therapeutics for Von Willebrand Disease, Type 1

Drugs for Von Willebrand Disease, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
2
Insulin Aspart Approved Phase 4 116094-23-6 16132418
3
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
4 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
5 Factor VIII Phase 4,Phase 3,Phase 1
6 Hypoglycemic Agents Phase 4,Phase 3
7 insulin Phase 4
8 Insulin, Globin Zinc Phase 4
9 Biphasic Insulins Phase 4
10 Insulin aspart, insulin aspart protamine drug combination 30:70 Phase 4
11 Insulin, Isophane Phase 4
12 Protamines Phase 4
13
Tranexamic Acid Approved Phase 3 1197-18-8 5526
14
Liraglutide Approved Phase 3 204656-20-2
15 Antifibrinolytic Agents Phase 3
16 Hemostatics Phase 3,Phase 2,Phase 1
17 Pharmaceutical Solutions Phase 3
18 Dipeptidyl-Peptidase IV Inhibitors Phase 3
19 HIV Protease Inhibitors Phase 3
20 Hormone Antagonists Phase 3,Phase 2
21 Hormones Phase 3,Phase 2
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
23 Incretins Phase 3
24
protease inhibitors Phase 3
25 Sitagliptin Phosphate Phase 3
26
Oprelvekin Approved, Investigational Phase 2 145941-26-0
27
Tamoxifen Approved Phase 2 10540-29-1 2733526
28
Afimoxifene Investigational Phase 2 68392-35-8
29 Arginine Vasopressin Phase 2,Phase 1
30 Deamino Arginine Vasopressin Phase 2,Phase 1
31 Natriuretic Agents Phase 2,Phase 1
32 Vasopressins Phase 2,Phase 1
33 Anticoagulants Phase 2
34 Antineoplastic Agents, Hormonal Phase 2
35 Bone Density Conservation Agents Phase 2
36 Calcium, Dietary Phase 2
37 Chelating Agents Phase 2
38 Estrogen Antagonists Phase 2
39 Estrogen Receptor Modulators Phase 2
40 Estrogens Phase 2
41 Selective Estrogen Receptor Modulators Phase 2
42 arginine Nutraceutical Phase 2,Phase 1
43 Citrate Nutraceutical Phase 2
44
Citric Acid Nutraceutical, Vet_approved Phase 2 77-92-9 311
45
Bevacizumab Approved, Investigational 216974-75-3
46
Zinc Approved 7440-66-6 32051 23994
47
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
48
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
49 Angiogenesis Inhibitors
50 Angiogenesis Modulating Agents

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex in Surgical Subjects With Von Willebrand Disease (vWD) Completed NCT00168090 Phase 4
2 Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and Diet Completed NCT00118937 Phase 4
3 Effect of Repaglinide Versus Metformin Treatment in Non-Obese Patients With Type-2-Diabetes Completed NCT00118963 Phase 4
4 Efficacy and Safety of DLBS1033 in Subjects With Type 2 Diabetes Mellitus Completed NCT01865474 Phase 4
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 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
8 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
9 Minimize Menorrhagia in Women With Type 1 Von Willebrand Disease Not yet recruiting NCT02606045 Phase 3
10 IL-11 in Women With Von Willebrand Disease and Refractory Menorrhagia Completed NCT00524342 Phase 2
11 Phase II Study of IL-11 (Neumega) in Von Willebrand Disease Completed NCT00151125 Phase 2
12 ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2
13 Tamoxifen Citrate or Afimoxifene in Treating Patients With Estrogen Receptor Positive Breast Cancer Not yet recruiting NCT02993159 Phase 2
14 IL-11 in Adults With Von Willebrand Disease Undergoing Surgery Terminated NCT00524225 Phase 2
15 Pharmacokinetic, Safety and Tolerability Study of Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex in Type 3 Von Willebrand Disease Completed NCT00816660 Phase 1
16 Phase 1 Dose Escalation, Single Dose Study to Assess Safety and Pharmacokinetics of BAX930 in Hereditary Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT02216084 Phase 1
17 A Study of Hypoxia-inducible Factor 1a (HIF1A) Messenger Ribonucleic Acid (mRNA) Antagonist (RO7070179), to Demonstrate Proof-of-mechanism in Adult Participants With Hepatocellular Carcinoma (HCC) Recruiting NCT02564614 Phase 1
18 Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers Enrolling by invitation NCT02506023 Phase 1
19 Study of DDAVP Combined With TXA on the Blood Loss and Transfusion Need During and After Scoliosis Correction Surgery Unknown status NCT02084342
20 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
21 The Effect of Folic Acid Administration in the Progression of Microalbuminuria Completed NCT00737126
22 Vascular Assessment in Adult Survivors of Childhood Cancer Completed NCT02010190
23 SIT LESS 3: The Effect of Low Intensity Physical Activity on Insulin Sensitivity, Mood and Cognitive Performance Completed NCT02394249
24 Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
25 Type 3 Von Willebrand International Registries Inhibitor Prospective Study Active, not recruiting NCT02460458
26 International Immune Tolerance Study Terminated NCT00212472
27 Changes in Bleeding and Clotting During the Menstrual Cycle Withdrawn NCT00480545

Search NIH Clinical Center for Von Willebrand Disease, Type 1

Cochrane evidence based reviews: von willebrand disease, type 1

Genetic Tests for Von Willebrand Disease, Type 1

Genetic tests related to Von Willebrand Disease, Type 1:

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

Anatomical Context for Von Willebrand Disease, Type 1

MalaCards organs/tissues related to Von Willebrand Disease, Type 1:

39
Whole Blood

Publications for Von Willebrand Disease, Type 1

Articles related to Von Willebrand Disease, Type 1:

id Title Authors Year
1
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )
2016
2
Managing patients with von Willebrand disease type 1, 2 and 3 with desmopressin and von Willebrand factor-factor VIII concentrate in surgical settings. ( 19506363 )
2009
3
Laboratory diagnosis and molecular basis of mild von Willebrand disease type 1. ( 19506353 )
2009
4
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. ( 19372260 )
2009
5
Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. ( 19506356 )
2009
6
PFA-100 monitoring of von Willebrand factor (VWF) responses to desmopressin (DDAVP) and factor VIII/VWF concentrate substitution in von Willebrand disease type 1 and 2. ( 18766263 )
2008
7
Intravenous DDAVP and factor VIII-von Willebrand factor concentrate for the treatment and prophylaxis of bleedings in patients With von Willebrand disease type 1, 2 and 3. ( 17164493 )
2007
8
Guidelines for the evaluation of intravenous desmopressin and von Willebrand factor/factor VIII concentrate in the treatment and prophylaxis of bleedings in von Willebrand disease types 1, 2, and 3. ( 16977574 )
2006
9
Platelet membrane glycoprotein polymorphisms do not influence the clinical expressivity of von Willebrand disease type 1. ( 14652648 )
2003
10
Von Willebrand disease type 1: a diagnosis in search of a disease. ( 12411289 )
2003

Variations for Von Willebrand Disease, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Von Willebrand Disease, Type 1:

66
id Symbol AA change Variation ID SNP ID
1 VWF p.Arg273Trp VAR_010242 rs61753997
2 VWF p.Cys1149Arg VAR_064925 rs61748511

ClinVar genetic disease variations for Von Willebrand Disease, Type 1:

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
2 VWF NM_000552.4(VWF): c.4975C> T (p.Arg1659Ter) single nucleotide variant Pathogenic rs61750595 GRCh37 Chromosome 12, 6127609: 6127609
3 VWF NM_000552.4(VWF): c.5557C> T (p.Arg1853Ter) single nucleotide variant Pathogenic rs61750612 GRCh37 Chromosome 12, 6122710: 6122710
4 VWF NM_000552.4(VWF): c.3614G> A (p.Arg1205His) single nucleotide variant Pathogenic rs121964895 GRCh37 Chromosome 12, 6131126: 6131126
5 VWF NM_000552.4(VWF): c.3445T> C (p.Cys1149Arg) single nucleotide variant Pathogenic rs61748511 GRCh37 Chromosome 12, 6131999: 6131999
6 VWF VWF, 8.6-KB DEL, EX4-5 deletion Pathogenic
7 VWF NM_000552.4(VWF): c.2279G> A (p.Arg760His) single nucleotide variant Pathogenic rs61748467 GRCh37 Chromosome 12, 6155891: 6155891

Expression for Von Willebrand Disease, Type 1

Search GEO for disease gene expression data for Von Willebrand Disease, Type 1.

Pathways for Von Willebrand Disease, Type 1

Pathways related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 F2 F3 F8 GP6 VWF
2
Show member pathways
12.27 F2 F3 F8
3 11.55 GP6 VWF
4
Show member pathways
11.42 F2 VWF
5 11.4 F2 F3 F8 VWF
6 11.34 F3 VWF
7
Show member pathways
11.23 F2 F3 F8 GP6 VWF
8 11.04 F2 GP6 VWF
9 10.44 GP6 VWF

GO Terms for Von Willebrand Disease, Type 1

Cellular components related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 F8 VWF

Biological processes related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.46 F2 F8 GP6 VWF
2 blood coagulation, intrinsic pathway GO:0007597 9.43 F2 F8 VWF
3 platelet degranulation GO:0002576 9.4 F8 VWF
4 response to wounding GO:0009611 9.37 F2 VWF
5 blood coagulation GO:0007596 9.35 F2 F3 F8 GP6 VWF
6 acute-phase response GO:0006953 9.32 F2 F8
7 hemostasis GO:0007599 9.02 F2 F3 F8 GP6 VWF

Molecular functions related to Von Willebrand Disease, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.16 F3 VWF
2 collagen binding GO:0005518 8.96 GP6 VWF
3 serine-type endopeptidase activity GO:0004252 8.8 F2 F3 F8

Sources for Von Willebrand Disease, Type 1

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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