VWD3
MCID: VNW003
MIFTS: 30

Von Willibrand Disease, Type 3 (VWD3) malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Von Willibrand Disease, Type 3

Aliases & Descriptions for Von Willibrand Disease, Type 3:

Name: Von Willibrand Disease, Type 3 54 13
Von Willebrand Disease Type Iii 12 24 66
Von Willebrand Disease, Type 3 54 42 69
Von Willebrand Disease Recessive Form 66 29
Von Willebrand Disease Type 3 12 56
Von Willebrand Disease 3 66 29
Vwd3 12 66
Von Willebrand Factor Deficiency Type 3 66
Von Willebrand Disease, Recessive Form 24
Type 3 Von Willebrand Disease 24
Von Willebrand's Disease 3 12
Vwd Type 3 12

Characteristics:

Orphanet epidemiological data:

56
von willebrand disease type 3
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
von willibrand disease, type 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 277480
Disease Ontology 12 DOID:0111054
ICD10 33 D68.0
MeSH 42 D056729
Orphanet 56 ORPHA166096
MESH via Orphanet 43 D056729
ICD10 via Orphanet 34 D68.0
UMLS via Orphanet 70 C1264041
UMLS 69 C1264041

Summaries for Von Willibrand Disease, Type 3

OMIM : 54 Von Willebrand disease is a bleeding disorder resulting from a defect in platelet aggregation due to defects in the von... (277480) more...

MalaCards based summary : Von Willibrand Disease, Type 3, also known as von willebrand disease type iii, is related to von willebrand disease, type 1 and von willebrand's disease, and has symptoms including thrombocytopenia, epistaxis and bruising susceptibility. An important gene associated with Von Willibrand Disease, Type 3 is VWF (Von Willebrand Factor). The drugs Simvastatin and Metformin have been mentioned in the context of this disorder.

Disease Ontology : 12 A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.

UniProtKB/Swiss-Prot : 66 von Willebrand disease 3: A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses.

Related Diseases for Von Willibrand Disease, Type 3

Diseases related to Von Willibrand Disease, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 1 11.1
2 von willebrand's disease 10.9
3 endotheliitis 9.8

Symptoms & Phenotypes for Von Willibrand Disease, Type 3

Symptoms by clinical synopsis from OMIM:

277480

Clinical features from OMIM:

277480

Human phenotypes related to Von Willibrand Disease, Type 3:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 epistaxis 32 HP:0000421
3 bruising susceptibility 32 HP:0000978
4 prolonged bleeding time 32 HP:0003010
5 menorrhagia 32 HP:0000132
6 reduced factor viii activity 32 HP:0003125
7 reduced von willebrand factor activity 32 HP:0008330
8 impaired platelet aggregation 32 HP:0003540
9 joint hemorrhage 32 HP:0005261
10 persistent bleeding after trauma 32 HP:0001934

Drugs & Therapeutics for Von Willibrand Disease, Type 3

Drugs for Von Willibrand Disease, Type 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4 79902-63-9 54454
2
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
3
Insulin Aspart Approved Phase 4 116094-23-6 16132418
4
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
5 Anticholesteremic Agents Phase 4
6 Antimetabolites Phase 4
7 Atorvastatin Calcium Phase 4 134523-03-8
8 Calcium, Dietary Phase 4
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
10 Hypolipidemic Agents Phase 4
11 Lipid Regulating Agents Phase 4
12 Arginine Vasopressin Phase 4,Phase 2
13 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
14 Deamino Arginine Vasopressin Phase 4,Phase 2
15 Hemostatics Phase 4,Phase 3,Phase 2
16 Natriuretic Agents Phase 4,Phase 2
17 Vasopressins Phase 4,Phase 2
18 Hypoglycemic Agents Phase 4,Phase 3
19 insulin Phase 4
20 Insulin, Globin Zinc Phase 4
21 Biphasic Insulins Phase 4
22 Insulin aspart, insulin aspart protamine drug combination 30:70 Phase 4
23 Insulin, Isophane Phase 4
24 Protamines Phase 4
25 Factor VIII Phase 4,Phase 3,Phase 1
26 arginine Nutraceutical Phase 4,Phase 2
27
Glimepiride Approved Phase 3 93479-97-1 3476
28
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
29
Liraglutide Approved Phase 3 204656-20-2
30
Tranexamic Acid Approved Phase 3 1197-18-8 5526
31 Pharmaceutical Solutions Phase 3
32 Anti-Arrhythmia Agents Phase 3
33 Immunosuppressive Agents Phase 3
34 Dipeptidyl-Peptidase IV Inhibitors Phase 3
35 HIV Protease Inhibitors Phase 3
36 Hormone Antagonists Phase 3
37 Hormones Phase 3
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
39 Incretins Phase 3
40
protease inhibitors Phase 3
41 Sitagliptin Phosphate Phase 3
42 Antifibrinolytic Agents Phase 3
43
Oprelvekin Approved, Investigational Phase 2 145941-26-0
44
Zinc Approved 7440-66-6 32051 23994

Interventional clinical trials:

(show all 22)
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 Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and Diet Completed NCT00118937 Phase 4
4 Effect of Repaglinide Versus Metformin Treatment in Non-Obese Patients With Type-2-Diabetes Completed NCT00118963 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 Efficacy of Pioglitazone/Metformin Combination Therapy in Subjects With Type 2 Diabetes Mellitus and Dyslipidemia. Completed NCT00770653 Phase 3
9 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
10 Clinical Study to Investigate the PK, Efficacy, and Safety of Wilate in Patients With Severe Hemophilia A Recruiting NCT02954575 Phase 3
11 Minimize Menorrhagia in Women With Type 1 Von Willebrand Disease Not yet recruiting NCT02606045 Phase 3
12 A Study With OPTIVATE® in People With Von Willebrand Disease Terminated NCT00387192 Phase 3
13 ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2
14 IL-11 in Adults With Von Willebrand Disease Undergoing Surgery Terminated NCT00524225 Phase 2
15 A Study of the Pharmacokinetics, Pharmacodynamics, and Safety of ARC1779 Injection in Patients With Von Willebrand Disease Type 2B Withdrawn NCT00694785 Phase 2
16 Pharmacokinetic, Safety and Tolerability Study of Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex in Type 3 Von Willebrand Disease Completed NCT00816660 Phase 1
17 Phase 1 Dose Escalation, Single Dose Study to Assess Safety and Pharmacokinetics of BAX930 in Hereditary Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT02216084 Phase 1
18 Evaluation of Menses in Congenital Bleeding Disorders Unknown status NCT01261936
19 SIT LESS 3: The Effect of Low Intensity Physical Activity on Insulin Sensitivity, Mood and Cognitive Performance Completed NCT02394249
20 Gingival Bleeding and Von Willebrand Disease Typ 2 and 3 Recruiting NCT03078595
21 Type 3 Von Willebrand International Registries Inhibitor Prospective Study Active, not recruiting NCT02460458
22 Rescue Immunotolerance Study in Induction of Immune Tolerance (ITI)-Experienced Patients (RES.I.S.T. Experienced) Active, not recruiting NCT01051076

Search NIH Clinical Center for Von Willibrand Disease, Type 3

Cochrane evidence based reviews: von willebrand disease, type 3

Genetic Tests for Von Willibrand Disease, Type 3

Genetic tests related to Von Willibrand Disease, Type 3:

id Genetic test Affiliating Genes
1 Von Willebrand Disease, Recessive Form 29
2 Von Willebrand Disease Type 3 29
3 Type 3 Von Willebrand Disease 24

Anatomical Context for Von Willibrand Disease, Type 3

Publications for Von Willibrand Disease, Type 3

Variations for Von Willibrand Disease, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Von Willibrand Disease, Type 3:

66
id Symbol AA change Variation ID SNP ID
1 VWF p.Trp377Cys VAR_005782 rs62643626
2 VWF p.Cys2739Tyr VAR_005821 rs61751305
3 VWF p.Pro2063Ser VAR_009142 rs61750615
4 VWF p.Cys2362Phe VAR_009143 rs61750630
5 VWF p.Asn2546Tyr VAR_009144 rs61751298
6 VWF p.Arg273Trp VAR_010242 rs61753997

ClinVar genetic disease variations for Von Willibrand Disease, Type 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.4975C> T (p.Arg1659Ter) single nucleotide variant Pathogenic rs61750595 GRCh37 Chromosome 12, 6127609: 6127609
2 VWF NM_000552.4(VWF): c.5557C> T (p.Arg1853Ter) single nucleotide variant Pathogenic rs61750612 GRCh37 Chromosome 12, 6122710: 6122710
3 VWF NM_000552.4(VWF): c.7603C> T (p.Arg2535Ter) single nucleotide variant Pathogenic rs61751296 GRCh37 Chromosome 12, 6078503: 6078503
4 VWF NM_000552.4(VWF): c.2435delC (p.Pro812Argfs) deletion Pathogenic rs62643632 GRCh38 Chromosome 12, 6044298: 6044298
5 VWF NM_000552.4(VWF): c.7085G> T (p.Cys2362Phe) single nucleotide variant Pathogenic rs61750630 GRCh37 Chromosome 12, 6091154: 6091154
6 VWF VWF, 8.6-KB DEL, EX4-5 deletion Pathogenic

Expression for Von Willibrand Disease, Type 3

Search GEO for disease gene expression data for Von Willibrand Disease, Type 3.

Pathways for Von Willibrand Disease, Type 3

GO Terms for Von Willibrand Disease, Type 3

Sources for Von Willibrand Disease, Type 3

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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