MCID: VNW004
MIFTS: 31

Von Willebrand Disease, Platelet-Type

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Von Willebrand Disease, Platelet-Type

MalaCards integrated aliases for Von Willebrand Disease, Platelet-Type:

Name: Von Willebrand Disease, Platelet-Type 54 13 52
Pseudo-Von Willebrand Disease 12 50 24 56 71
Von Willebrand Disease, Platelet Type 50 69
Platelet Type-Von Willebrand Disease 12 56
Von Willebrand Disease Platelet-Type 12 71
Bdplt3 12 71
Pt-Vwd 12 56
Pseudo-Von Willebrand Disease Type 2b 56
Platelet-Type Von Willebrand Disease 24
Platelet-Type Bleeding Disorder 3 12
Bleeding Disorder Platelet-Type 3 71
Pseudo Von Willebrand Disease 29
Pseudo-Vwd 71
Vwdp 71

Characteristics:

Orphanet epidemiological data:

56
pseudo-von willebrand disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
allelic to giant platelet syndrome and bernard-soulier syndrome, benign, autosomal dominant


HPO:

32
von willebrand disease, platelet-type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 177820
Disease Ontology 12 DOID:0111056
ICD10 33 D69.8
Orphanet 56 ORPHA52530
UMLS via Orphanet 70 C1280798
ICD10 via Orphanet 34 D69.8
MedGen 40 C1280798
MeSH 42 D014842
SNOMED-CT via HPO 65 263681008

Summaries for Von Willebrand Disease, Platelet-Type

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 52530disease definitionplatelet type von willebrand disease (pt-vwd) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. pt-vwd is due to hyperresponsive platelets, resulting in thrombocytopenia.visit the orphanet disease page for more resources. last updated: 1/1/2014

MalaCards based summary : Von Willebrand Disease, Platelet-Type, also known as pseudo-von willebrand disease, is related to type 2b von willebrand disease and alpha-2-plasmin inhibitor deficiency, and has symptoms including prolonged bleeding time and intermittent thrombocytopenia. An important gene associated with Von Willebrand Disease, Platelet-Type is GP1BA (Glycoprotein Ib Platelet Alpha Subunit), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and ECM-receptor interaction.

Disease Ontology : 12 A inherited blood coagulation disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has material_basis_in mutation in the GP1BA gene on chromosome 17p13.2.

OMIM : 54
Platelet-type von Willebrand disease, also known as pseudo-von Willebrand disease, is an autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation (Murata et al., 1993). Miller (1996) gave a comprehensive review of the disorder. (177820)

UniProtKB/Swiss-Prot : 71 Pseudo-von Willebrand disease: A bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation.

Related Diseases for Von Willebrand Disease, Platelet-Type

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



Diseases related to Von Willebrand Disease, Platelet-Type

Symptoms & Phenotypes for Von Willebrand Disease, Platelet-Type

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
prolonged bleeding time
increased platelet aggregation with ristocetin
decreased high molecular weight plasma factor viii/ vwf multimers

Endocrine Features:
intermittent thrombocytopenia


Clinical features from OMIM:

177820

Human phenotypes related to Von Willebrand Disease, Platelet-Type:

32
id Description HPO Frequency HPO Source Accession
1 prolonged bleeding time 32 HP:0003010
2 intermittent thrombocytopenia 32 HP:0004854

Drugs & Therapeutics for Von Willebrand Disease, Platelet-Type

Search Clinical Trials , NIH Clinical Center for Von Willebrand Disease, Platelet-Type

Genetic Tests for Von Willebrand Disease, Platelet-Type

Genetic tests related to Von Willebrand Disease, Platelet-Type:

id Genetic test Affiliating Genes
1 Pseudo Von Willebrand Disease 29
2 Pseudo-Von Willebrand Disease 24 GP1BA

Anatomical Context for Von Willebrand Disease, Platelet-Type

Publications for Von Willebrand Disease, Platelet-Type

Variations for Von Willebrand Disease, Platelet-Type

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

71
id Symbol AA change Variation ID SNP ID
1 GP1BA p.Gly249Val VAR_005261 rs121908062
2 GP1BA p.Met255Val VAR_005262 rs121908064
3 GP1BA p.Gly249Ser VAR_019657

ClinVar genetic disease variations for Von Willebrand Disease, Platelet-Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GP1BA NM_000173.6(GP1BA): c.746G> T (p.Gly249Val) single nucleotide variant Pathogenic rs121908062 GRCh37 Chromosome 17, 4836645: 4836645
2 GP1BA NM_000173.6(GP1BA): c.763A> G (p.Met255Val) single nucleotide variant Pathogenic rs121908064 GRCh37 Chromosome 17, 4836662: 4836662

Expression for Von Willebrand Disease, Platelet-Type

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

Pathways for Von Willebrand Disease, Platelet-Type

GO Terms for Von Willebrand Disease, Platelet-Type

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

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.32 GP1BA VWF
2 blood coagulation GO:0007596 9.26 GP1BA VWF
3 platelet activation GO:0030168 9.16 GP1BA VWF
4 hemostasis GO:0007599 8.96 GP1BA VWF
5 blood coagulation, intrinsic pathway GO:0007597 8.62 GP1BA VWF

Sources for Von Willebrand Disease, Platelet-Type

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....