VWDP
MCID: PSD048
MIFTS: 43

Pseudo-Von Willebrand Disease (VWDP)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Pseudo-Von Willebrand Disease

MalaCards integrated aliases for Pseudo-Von Willebrand Disease:

Name: Pseudo-Von Willebrand Disease 58 12 54 60 76
Von Willebrand Disease, Platelet-Type 58 13 56
Bdplt3 58 12 76
Von Willebrand Disease, Platelet Type 54 74
Platelet Type-Von Willebrand Disease 12 60
Von Willebrand Disease Platelet-Type 12 76
Platelet-Type Bleeding Disorder 3 12 15
Pseudo Von Willebrand Disease 30 6
Pt-Vwd 12 60
Vwdp 58 76
Bleeding Disorder, Platelet-Type, 3; Bdplt3 58
Pseudo-Von Willebrand Disease Type 2b 60
Platelet-Type Von Willebrand Disease 38
Bleeding Disorder, Platelet-Type, 3 58
Bleeding Disorder Platelet-Type 3 76
Von Willebrand Disease, Pseudo 41
Pseudo-Vwd 76

Characteristics:

Orphanet epidemiological data:

60
pseudo-von willebrand disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
pseudo-von willebrand disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111056
OMIM 58 177820
KEGG 38 H02093
MeSH 45 D014842
ICD10 34 D69.8
ICD10 via Orphanet 35 D69.8
UMLS via Orphanet 75 C1280798
Orphanet 60 ORPHA52530
MedGen 43 C1280798
SNOMED-CT via HPO 70 263681008
UMLS 74 C1280798

Summaries for Pseudo-Von Willebrand Disease

NIH Rare Diseases : 54 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.

MalaCards based summary : Pseudo-Von Willebrand Disease, also known as von willebrand disease, platelet-type, is related to thrombosis and thrombocytopenia. An important gene associated with Pseudo-Von Willebrand Disease is GP1BA (Glycoprotein Ib Platelet Subunit Alpha), and among its related pathways/superpathways are Platelet activation and Response to elevated platelet cytosolic Ca2+. Related phenotypes are prolonged bleeding time and intermittent thrombocytopenia

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 : 58 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 : 76 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 Pseudo-Von Willebrand Disease

Diseases in the Von Willebrand's Disease family:

Pseudo-Von Willebrand Disease Von Willebrand Disease, Type 1
Von Willebrand Disease, Type 3 Von Willebrand Disease, Type 2
Acquired Von Willebrand Syndrome

Diseases related to Pseudo-Von Willebrand Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 thrombosis 30.5 GP1BA GP6 VWF
2 thrombocytopenia 29.5 GATA1 GP1BA GP1BB GP9 ITGA2B MYH9
3 von willebrand's disease 10.5
4 thrombasthenia 10.3 GP1BA GP9 ITGA2B
5 fetal and neonatal alloimmune thrombocytopenia 10.3 GP1BA GP1BB ITGA2B
6 autoimmune disease of blood 10.2 GP1BA ITGA2B VWF
7 coronary thrombosis 10.2 GP1BA GP6 VWF
8 von willebrand disease, type 3 10.2 GP1BA GP6 VWF
9 acquired von willebrand syndrome 10.2 GP1BA VWF
10 velocardiofacial syndrome 10.2 GP1BA GP1BB GP9
11 myh-9 related disease 10.2 ANO6 GP1BA MYH9
12 purpura 10.1 GP1BB ITGA2B VWF
13 thrombocytopenic purpura, autoimmune 10.1 GP1BA GP6 ITGA2B
14 bowenoid papulosis 10.1
15 von willebrand disease, type 2 10.1 GP1BA GP6 ITGA2B VWF
16 thrombocytopenia due to platelet alloimmunization 10.1 GP9 ITGA2B MYH9
17 hemorrhagic disease 10.1 GP1BA GP6 ITGA2B VWF
18 leukocyte adhesion deficiency, type iii 10.1 F2R FERMT3 ITGA2B
19 lateral myocardial infarction 10.0 ITGA2B PCLAF
20 autosomal dominant macrothrombocytopenia 10.0 GP1BA GP1BB ITGA2B MYH9
21 von willebrand disease, type 1 10.0 GP6 VWF
22 inherited blood coagulation disease 9.9 ANO6 GP1BA GP1BB GP9 ITGA2B VWF
23 glanzmann thrombasthenia 9.9 F2R GP1BA GP9 ITGA2B VWF
24 primary thrombocytopenia 9.9 GP1BA GP6 ITGA2B MYH9 VWF
25 gray platelet syndrome 9.9 GATA1 GP6 GP9 VWF
26 essential thrombocythemia 9.8 GATA1 GP1BA ITGA2B VWF
27 blood coagulation disease 9.8 GP1BA GP1BB GP9 ITGA2B MYH9 VWF
28 megakaryocytic leukemia 9.7 GATA1 ITGA2B LYN VWF
29 myocardial infarction 9.6 F2R GP1BA GP6 ITGA2B VWF
30 blood platelet disease 9.5 F2R GP1BA GP1BB GP9 ITGA2B MYH9
31 bernard-soulier syndrome 9.5 F2R GP1BA GP1BB GP9 ITGA2B MYH9

Graphical network of the top 20 diseases related to Pseudo-Von Willebrand Disease:



Diseases related to Pseudo-Von Willebrand Disease

Symptoms & Phenotypes for Pseudo-Von Willebrand Disease

Human phenotypes related to Pseudo-Von Willebrand Disease:

33
# Description HPO Frequency HPO Source Accession
1 prolonged bleeding time 33 HP:0003010
2 intermittent thrombocytopenia 33 HP:0004854

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Pseudo-Von Willebrand Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.16 ANO6 F2R FERMT3 FLNA GATA1 GP1BA
2 cardiovascular system MP:0005385 10.1 DNM1 F2R FERMT3 FLNA GATA1 HADHA
3 homeostasis/metabolism MP:0005376 10.09 ANO6 DNM1 F2R FERMT3 FLNA GATA1
4 cellular MP:0005384 10.07 ANO6 DNM1 F2R FLNA GATA1 GP1BA
5 digestive/alimentary MP:0005381 9.87 ANO6 F2R FERMT3 FLNA ITGA2B LYN
6 immune system MP:0005387 9.73 F2R FERMT3 FLNA GATA1 GP6 ITGA2B
7 mortality/aging MP:0010768 9.44 ANO6 DNM1 F2R FERMT3 FLNA GATA1

Drugs & Therapeutics for Pseudo-Von Willebrand Disease

Search Clinical Trials , NIH Clinical Center for Pseudo-Von Willebrand Disease

Genetic Tests for Pseudo-Von Willebrand Disease

Genetic tests related to Pseudo-Von Willebrand Disease:

# Genetic test Affiliating Genes
1 Pseudo Von Willebrand Disease 30 GP1BA

Anatomical Context for Pseudo-Von Willebrand Disease

Publications for Pseudo-Von Willebrand Disease

Articles related to Pseudo-Von Willebrand Disease:

# Title Authors Year
1
2B or not 2B? Differential identification of Type 2B, versus pseudo-,von Willebrand disease. ( 17233824 )
2007
2
Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease (VWD) from Type 2B VWD using a simplified ristocetin-induced-platelet-agglutination mixing assay and confirmed by genetic analysis. ( 17916098 )
2007
3
Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance. ( 16704444 )
2006
4
2B or not 2B? Differential identification of type 2B, versus pseudo-von Willebrand disease. ( 16911565 )
2006
5
De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease. ( 9282797 )
1997
6
Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. ( 8384898 )
1993
7
Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment. ( 8486780 )
1993
8
Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. ( 2052556 )
1991

Variations for Pseudo-Von Willebrand Disease

UniProtKB/Swiss-Prot genetic disease variations for Pseudo-Von Willebrand Disease:

76
# 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 Pseudo-Von Willebrand Disease:

6
# 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.746G> T (p.Gly249Val) single nucleotide variant Pathogenic rs121908062 GRCh38 Chromosome 17, 4933350: 4933350
3 GP1BA NM_000173.5(GP1BA): c.763A> G (p.Met255Val) single nucleotide variant Pathogenic rs121908064 GRCh37 Chromosome 17, 4836662: 4836662
4 GP1BA NM_000173.5(GP1BA): c.763A> G (p.Met255Val) single nucleotide variant Pathogenic rs121908064 GRCh38 Chromosome 17, 4933367: 4933367
5 GP1BA NM_000173.6(GP1BA): c.256C> T (p.Leu86Phe) single nucleotide variant Likely benign rs13306411 GRCh38 Chromosome 17, 4932860: 4932860
6 GP1BA NM_000173.6(GP1BA): c.256C> T (p.Leu86Phe) single nucleotide variant Likely benign rs13306411 GRCh37 Chromosome 17, 4836155: 4836155
7 GP1BA NM_000173.6(GP1BA): c.92T> C (p.Val31Ala) single nucleotide variant not provided GRCh38 Chromosome 17, 4932696: 4932696
8 GP1BA NM_000173.6(GP1BA): c.92T> C (p.Val31Ala) single nucleotide variant not provided GRCh37 Chromosome 17, 4835991: 4835991

Expression for Pseudo-Von Willebrand Disease

Search GEO for disease gene expression data for Pseudo-Von Willebrand Disease.

Pathways for Pseudo-Von Willebrand Disease

Pathways related to Pseudo-Von Willebrand Disease according to KEGG:

38
# Name Kegg Source Accession
1 Platelet activation hsa04611

Pathways related to Pseudo-Von Willebrand Disease according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 F2R FERMT3 FLNA GATA1 GP1BA GP1BB
2 12.3 DNM1 FLNA ITGA2B MYH9
3
Show member pathways
12.08 F2R GP1BA GP1BB GP6 GP9 VWF
4
Show member pathways
12.03 GP1BA GP1BB GP6 GP9 ITGA2B VWF
5
Show member pathways
11.82 GP1BA GP1BB GP9 ITGA2B VWF
6 11.74 GP1BA GP1BB GP9 ITGA2B
7 11.42 F2R FERMT3 GP1BA GP1BB GP6 GP9
8 11.41 F2R GP1BB GP6 GP9 ITGA2B TBXA2R
9 11.35 GATA1 GP9 ITGA2B
10 11.08 DNM1 ITGA2B LYN
11 10.65 FLNA GP1BA GP1BB GP9 VWF
12 10.55 GP1BA GP1BB GP6 GP9 LYN VWF

GO Terms for Pseudo-Von Willebrand Disease

Cellular components related to Pseudo-Von Willebrand Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.73 ANO6 DNM1 F2R FLNA GP1BA GP1BB
2 cell surface GO:0009986 9.65 ANO6 F2R GP1BA GP6 ITGA2B
3 extracellular exosome GO:0070062 9.36 ANO6 DNM1 FERMT3 FLNA GP1BA GP6
4 cortical cytoskeleton GO:0030863 9.32 FLNA MYH9
5 platelet alpha granule GO:0031091 9.16 VPS33B VWF
6 membrane GO:0016020 10.21 ANO6 DNM1 F2R FERMT3 FLNA GP1BA

Biological processes related to Pseudo-Von Willebrand Disease according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.95 FERMT3 GP1BA GP1BB GP9 ITGA2B MYH9
2 platelet degranulation GO:0002576 9.77 FERMT3 FLNA ITGA2B LYN VWF
3 hemostasis GO:0007599 9.73 F2R GP1BA GP1BB GP6 GP9 VWF
4 integrin-mediated signaling pathway GO:0007229 9.7 FERMT3 ITGA2B MYH9
5 platelet aggregation GO:0070527 9.63 FERMT3 FLNA GATA1 GP1BA ITGA2B MYH9
6 blood coagulation, intrinsic pathway GO:0007597 9.62 GP1BA GP1BB GP9 VWF
7 regulation of megakaryocyte differentiation GO:0045652 9.61 GATA1 GP1BA ITGA2B
8 platelet activation GO:0030168 9.56 F2R FLNA GP1BA GP1BB GP6 GP9
9 positive regulation of smooth muscle contraction GO:0045987 9.55 F2R TBXA2R
10 platelet formation GO:0030220 9.54 GATA1 MYH9
11 positive regulation of blood coagulation GO:0030194 9.51 F2R TBXA2R
12 regulation of blood coagulation GO:0030193 9.49 F2R GP1BA
13 dendritic cell differentiation GO:0097028 9.48 GATA1 LYN
14 thrombin-activated receptor signaling pathway GO:0070493 9.46 F2R GP1BA
15 blood coagulation GO:0007596 9.28 ANO6 F2R GATA1 GP1BA GP1BB GP6

Molecular functions related to Pseudo-Von Willebrand Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 ANO6 DNM1 F2R FLNA GATA1 GP1BA
2 protein-containing complex binding GO:0044877 9.56 DNM1 FLNA HADHA LYN
3 thrombin-activated receptor activity GO:0015057 9.16 F2R GP1BA
4 integrin binding GO:0005178 8.92 FERMT3 LYN MYH9 VWF

Sources for Pseudo-Von Willebrand Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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