MCID: VNW008
MIFTS: 45

Von Willebrand Disease, Type 3

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Von Willebrand Disease, Type 3

MalaCards integrated aliases for Von Willebrand Disease, Type 3:

Name: Von Willebrand Disease, Type 3 57 44 40 73
Von Willebrand Disease Type 3 12 59 29 6
Vwd3 57 12 75
Von Willebrand Disease, Recessive Form 29 6
Von Willebrand Disease Type Iii 12 75
Von Willibrand Disease, Type 3 57 13
Von Willebrand Factor Deficiency Type 3 75
Von Willebrand Disease Recessive Form 75
Von Willebrand Disease, Type Iii 57
Von Willebrand's Disease 3 12
Von Willebrand Disease 3 75
Vwd, Type 3 57
Vwd Type 3 12

Characteristics:

Orphanet epidemiological data:

59
von willebrand disease type 3
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
most severe type of von willebrand disease


HPO:

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


Classifications:



External Ids:

OMIM 57 277480
Disease Ontology 12 DOID:0111054
ICD10 33 D68.0
MeSH 44 D056729
Orphanet 59 ORPHA166096
MESH via Orphanet 45 D056729
ICD10 via Orphanet 34 D68.0
UMLS via Orphanet 74 C1264041
UMLS 73 C1264041

Summaries for Von Willebrand Disease, Type 3

OMIM : 57 Von Willebrand disease is a bleeding disorder resulting from a defect in platelet aggregation due to defects in the von Willebrand factor protein. Type 3 von Willebrand disease, which is inherited as an autosomal recessive disorder, is associated with a severe quantitative defect or virtual absence of VWF in plasma, a prolonged bleeding time, and more severe bleeding tendencies compared to the other types of VWD. Type 3 accounts for about 1% of patients with VWD. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, bleeding after surgery, and hemarthroses. Since VWF also serves as a carrier protein for coagulation factor VIII (F8; 300841), affected individuals also have very low levels of plasma F8, resembling hemophilia A (306700) (summary by 24,21:Zhang et al., 1992, 1993; reviews by Sadler et al., 2006 and Lillicrap, 2009). For a general description and a classification of the types of von Willebrand disease, see VWD type 1 (193400). (277480)

MalaCards based summary : Von Willebrand Disease, Type 3, also known as von willebrand disease type 3, is related to hemophilia and hemophilia a. An important gene associated with Von Willebrand Disease, Type 3 is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and ECM-receptor interaction. The drugs Factor VIII and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and endothelial, and related phenotypes are thrombocytopenia and epistaxis

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 : 75 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 Willebrand Disease, Type 3

Graphical network of the top 20 diseases related to Von Willebrand Disease, Type 3:



Diseases related to Von Willebrand Disease, Type 3

Symptoms & Phenotypes for Von Willebrand Disease, Type 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising

Laboratory Abnormalities:
severely decreased antigen levels of vwf and factor viii

Skeletal:
hemarthrosis may occur

Hematology:
prolonged bleeding time
mucocutaneous bleeding
prolonged bleeding after surgery or trauma
menorrhagia


Clinical features from OMIM:

277480

Human phenotypes related to Von Willebrand Disease, Type 3:

32 (show all 10)
# 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 joint hemorrhage 32 occasional (7.5%) HP:0005261
7 persistent bleeding after trauma 32 HP:0001934
8 reduced factor viii activity 32 HP:0003125
9 impaired platelet aggregation 32 HP:0003540
10 reduced von willebrand factor activity 32 HP:0008330

Drugs & Therapeutics for Von Willebrand Disease, Type 3

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1
2 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
3 Pharmaceutical Solutions Phase 3
4
Oprelvekin Approved, Investigational Phase 2 145941-26-0
5 Arginine Vasopressin Phase 2
6 Deamino Arginine Vasopressin Phase 2
7 Hemostatics Phase 2
8 Natriuretic Agents Phase 2
9 Vasopressins Phase 2
10 arginine Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Active, not recruiting NCT00555555 Phase 4
2 Study of Biostate® in Children With Von Willebrand Disease Completed NCT01213446 Phase 3
3 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
4 Efficacy and Safety of IL-11 in DDAVP Unresponsive Completed NCT00994929 Phase 2
5 Pharmacokinetic, Safety and Tolerability Study of Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex in Type 3 Von Willebrand Disease Completed NCT00816660 Phase 1
6 Type 3 Von Willebrand International Registries Inhibitor Prospective Study Unknown status NCT02460458

Search NIH Clinical Center for Von Willebrand Disease, Type 3

Cochrane evidence based reviews: von willebrand disease, type 3

Genetic Tests for Von Willebrand Disease, Type 3

Genetic tests related to Von Willebrand Disease, Type 3:

# Genetic test Affiliating Genes
1 Von Willebrand Disease, Recessive Form 29 VWF
2 Von Willebrand Disease Type 3 29

Anatomical Context for Von Willebrand Disease, Type 3

MalaCards organs/tissues related to Von Willebrand Disease, Type 3:

41
Liver, Heart, Endothelial

Publications for Von Willebrand Disease, Type 3

Articles related to Von Willebrand Disease, Type 3:

# Title Authors Year
1
Liver transplantation in hemophilia A and von Willebrand disease type 3: perioperative management and post-transplant outcome. ( 29931985 )
2018
2
Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations. ( 23834637 )
2013
3
Platelet morphological changes in 2 patients with von Willebrand disease type 3 caused by large homozygous deletions of the von Willebrand factor gene. ( 19608674 )
2009
4
A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3. ( 17371490 )
2007
5
Phenotypic correction of von Willebrand disease type 3 blood-derived endothelial cells with lentiviral vectors expressing von Willebrand factor. ( 16478886 )
2006
6
Continuous infusion of von Willebrand factor and factor VIII after elective heart surgery in a 12-year-old girl with von Willebrand disease type 3. ( 10599096 )
1999
7
Pharmacokinetics of von Willebrand factor and factor VIII coagulant activity in patients with von Willebrand disease type 3 and type 2. ( 10028318 )
1998
8
Pharmacokinetics of von Willebrand factor and factor VIIIC in patients with severe von Willebrand disease (type 3 VWD): estimation of the rate of factor VIIIC synthesis. Cooperative Study Groups. ( 8826903 )
1996

Variations for Von Willebrand Disease, Type 3

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

75
# 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 Willebrand Disease, Type 3:

6
(show all 13)
# 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.4975C> T (p.Arg1659Ter) single nucleotide variant Pathogenic rs61750595 GRCh38 Chromosome 12, 6018443: 6018443
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.5557C> T (p.Arg1853Ter) single nucleotide variant Pathogenic rs61750612 GRCh38 Chromosome 12, 6013544: 6013544
5 VWF NM_000552.4(VWF): c.7603C> T (p.Arg2535Ter) single nucleotide variant Pathogenic rs61751296 GRCh37 Chromosome 12, 6078503: 6078503
6 VWF NM_000552.4(VWF): c.7603C> T (p.Arg2535Ter) single nucleotide variant Pathogenic rs61751296 GRCh38 Chromosome 12, 5969337: 5969337
7 VWF NM_000552.4(VWF): c.2435delC (p.Pro812Argfs) deletion Pathogenic rs62643632 GRCh38 Chromosome 12, 6044298: 6044298
8 VWF NM_000552.4(VWF): c.2435delC (p.Pro812Argfs) deletion Pathogenic rs62643632 GRCh37 Chromosome 12, 6153464: 6153464
9 VWF NM_000552.4(VWF): c.7085G> T (p.Cys2362Phe) single nucleotide variant Pathogenic rs61750630 GRCh37 Chromosome 12, 6091154: 6091154
10 VWF NM_000552.4(VWF): c.7085G> T (p.Cys2362Phe) single nucleotide variant Pathogenic rs61750630 GRCh38 Chromosome 12, 5981988: 5981988
11 VWF VWF, 8.6-KB DEL, EX4-5 deletion Pathogenic
12 VWF NM_000552.4(VWF): c.2570A> G (p.Asn857Ser) single nucleotide variant Uncertain significance rs765163545 GRCh37 Chromosome 12, 6143969: 6143969
13 VWF NM_000552.4(VWF): c.2570A> G (p.Asn857Ser) single nucleotide variant Uncertain significance rs765163545 GRCh38 Chromosome 12, 6034803: 6034803

Expression for Von Willebrand Disease, Type 3

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

Pathways for Von Willebrand Disease, Type 3

GO Terms for Von Willebrand Disease, Type 3

Cellular components related to Von Willebrand Disease, Type 3 according to GeneCards Suite gene sharing:

# 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 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.43 F8 GP1BA VWF
2 platelet activation GO:0030168 9.33 F8 GP1BA VWF
3 platelet degranulation GO:0002576 9.32 F8 VWF
4 hemostasis GO:0007599 9.13 F8 GP1BA VWF
5 blood coagulation, intrinsic pathway GO:0007597 8.8 F8 GP1BA VWF

Sources for Von Willebrand Disease, Type 3

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
Content
Loading form....