MCID: VNW003
MIFTS: 24

Von Willibrand Disease, Type 3

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Von Willibrand Disease, Type 3

MalaCards integrated aliases for Von Willibrand Disease, Type 3:

Name: Von Willibrand Disease, Type 3 54 13
Von Willebrand Disease Type Iii 12 24 71
Von Willebrand Disease Type 3 12 56 29
Von Willebrand Disease, Recessive Form 24 29
Von Willebrand Disease, Type 3 42 69
Vwd3 12 71
Von Willebrand Factor Deficiency Type 3 71
Von Willebrand Disease Recessive Form 71
Type 3 Von Willebrand Disease 24
Von Willebrand's Disease 3 12
Von Willebrand Disease 3 71
Vwd Type 3 12

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Miscellaneous:
most severe type of von willebrand disease

Inheritance:
autosomal recessive


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
UMLS via Orphanet 70 C1264041
ICD10 via Orphanet 34 D68.0
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 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 Willibrand Disease, Type 3, also known as von willebrand disease type iii, is related to von willebrand's disease and endotheliitis, and has symptoms including thrombocytopenia, epistaxis and impaired platelet aggregation. An important gene associated with Von Willibrand Disease, Type 3 is VWF (Von Willebrand Factor).

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 : 71 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's disease 10.9
2 endotheliitis 9.8

Symptoms & Phenotypes for Von Willibrand Disease, Type 3

Symptoms via clinical synopsis from OMIM:

54

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

Skin Nails & Hair- Skin:
easy bruising

Head And Neck- Nose:
epistaxis

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

Skeletal:
hemarthrosis may occur


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 impaired platelet aggregation 32 HP:0003540
4 menorrhagia 32 HP:0000132
5 prolonged bleeding time 32 HP:0003010
6 persistent bleeding after trauma 32 HP:0001934
7 bruising susceptibility 32 HP:0000978
8 reduced factor viii activity 32 HP:0003125
9 reduced von willebrand factor activity 32 HP:0008330
10 joint hemorrhage 32 occasional (7.5%) HP:0005261

Drugs & Therapeutics for Von Willibrand Disease, Type 3

Search Clinical Trials , 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:

71
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
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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