MCID: PSD048
MIFTS: 33

Pseudo-Von Willebrand Disease

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Pseudo-Von Willebrand Disease

MalaCards integrated aliases for Pseudo-Von Willebrand Disease:

Name: Pseudo-Von Willebrand Disease 57 12 53 59 75
Von Willebrand Disease, Platelet-Type 57 13 55
Pseudo Von Willebrand Disease 29 6 40
Bdplt3 57 12 75
Von Willebrand Disease, Platelet Type 53 73
Platelet Type-Von Willebrand Disease 12 59
Von Willebrand Disease Platelet-Type 12 75
Pt-Vwd 12 59
Vwdp 57 75
Bleeding Disorder, Platelet-Type, 3; Bdplt3 57
Pseudo-Von Willebrand Disease Type 2b 59
Bleeding Disorder, Platelet-Type, 3 57
Platelet-Type Bleeding Disorder 3 12
Bleeding Disorder Platelet-Type 3 75
Pseudo-Vwd 75

Characteristics:

Orphanet epidemiological data:

59
pseudo-von willebrand disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
pseudo-von willebrand disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 177820
Disease Ontology 12 DOID:0111056
ICD10 33 D69.8
Orphanet 59 ORPHA52530
UMLS via Orphanet 74 C1280798
ICD10 via Orphanet 34 D69.8
MedGen 42 C1280798
MeSH 44 D014842
SNOMED-CT via HPO 69 263681008
UMLS 73 C1280798

Summaries for Pseudo-Von Willebrand Disease

NIH Rare Diseases : 53 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 von willebrand's disease and acquired von willebrand syndrome. An important gene associated with Pseudo-Von Willebrand Disease is GP1BA (Glycoprotein Ib Platelet Subunit Alpha), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and ECM-receptor interaction. Related phenotypes are prolonged bleeding time and intermittent thrombocytopenia

OMIM : 57 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 : 75 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.

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.

Related Diseases for Pseudo-Von Willebrand Disease

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 von willebrand's disease 29.8 GP1BA VWF
2 acquired von willebrand syndrome 9.7 GP1BA VWF
3 von willebrand disease, type 3 9.7 GP1BA VWF
4 inherited blood coagulation disease 9.6 GP1BA VWF
5 primary thrombocytopenia 9.6 GP1BA VWF
6 coronary thrombosis 9.6 GP1BA VWF
7 blood coagulation disease 9.6 GP1BA VWF
8 glanzmann thrombasthenia 9.5 GP1BA VWF
9 blood platelet disease 9.5 GP1BA VWF
10 purpura 9.4 GP1BA VWF
11 bernard-soulier syndrome 9.3 GP1BA VWF
12 thrombosis 9.2 GP1BA VWF
13 myocardial infarction 9.0 GP1BA VWF

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

Symptoms via clinical synopsis from OMIM:

57
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 Pseudo-Von Willebrand Disease:

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

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 29 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
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
2
2B or not 2B? Differential identification of Type 2B, versus pseudo-,von Willebrand disease. ( 17233824 )
2007
3
2B or not 2B? Differential identification of type 2B, versus pseudo-von Willebrand disease. ( 16911565 )
2006
4
Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance. ( 16704444 )
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

Variations for Pseudo-Von Willebrand Disease

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

75
# 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_000173.6(GP1BA): c.763A> G (p.Met255Val) single nucleotide variant Pathogenic rs121908064 GRCh37 Chromosome 17, 4836662: 4836662
4 GP1BA NM_000173.6(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

Expression for Pseudo-Von Willebrand Disease

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

Pathways for Pseudo-Von Willebrand Disease

GO Terms for Pseudo-Von Willebrand Disease

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

# 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 Pseudo-Von Willebrand Disease

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
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