VWDP
MCID: PSD048
MIFTS: 40

Pseudo-Von Willebrand Disease (VWDP)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Pseudo-Von Willebrand Disease

MalaCards integrated aliases for Pseudo-Von Willebrand Disease:

Name: Pseudo-Von Willebrand Disease 57 12 20 58 72
Von Willebrand Disease, Platelet-Type 57 13 54
Bdplt3 57 12 72
Von Willebrand Disease, Platelet Type 20 70
Platelet Type-Von Willebrand Disease 12 58
Von Willebrand Disease Platelet-Type 12 72
Platelet-Type Bleeding Disorder 3 12 15
Pseudo Von Willebrand Disease 29 6
Pt-Vwd 12 58
Vwdp 57 72
Bleeding Disorder, Platelet-Type, 3; Bdplt3 57
Pseudo-Von Willebrand Disease Type 2b 58
Platelet-Type Von Willebrand Disease 36
Bleeding Disorder, Platelet-Type, 3 57
Bleeding Disorder Platelet-Type 3 72
Von Willebrand Disease, Pseudo 39
Pseudo-Vwd 72

Characteristics:

Orphanet epidemiological data:

58
pseudo-von willebrand disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
pseudo-von willebrand disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111056
OMIM® 57 177820
OMIM Phenotypic Series 57 PS231200
KEGG 36 H02093
MeSH 44 D014842
ICD10 32 D69.8
ICD10 via Orphanet 33 D69.8
UMLS via Orphanet 71 C1280798
Orphanet 58 ORPHA52530
MedGen 41 C1280798
SNOMED-CT via HPO 68 263681008
UMLS 70 C1280798

Summaries for Pseudo-Von Willebrand Disease

KEGG : 36 Platelet-type von Willebrand disease (PT-VWD) is an autosomal dominant bleeding disorder caused by gain-of-function mutations of GP1BA gene coding for the platelet surface glycoprotein Ib alpha protein, the receptor for the adhesive protein von Willebrand factor (VWF). PT-VWD is unique among platelet disorders because of platelet hyperresponsiveness rather than decreased function. In PT-VWD patients, platelets bind the VWF and agglutinate spontaneously. This results in thrombocytopenia and reduction of plasma VWF as platelets are removed from circulation. Of note, there is a very similar disorder, type 2B von Willebrand disease (VWD) [DS:H02092], to be taken into consideration in differential diagnosis.

MalaCards based summary : Pseudo-Von Willebrand Disease, also known as von willebrand disease, platelet-type, is related to purpura and von willebrand's disease. 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+. Affiliated tissues include bone and kidney, and related phenotypes are prolonged bleeding time and intermittent thrombocytopenia

Disease Ontology : 12 A blood platelet 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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52530 Definition Platelet 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.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 47)
# Related Disease Score Top Affiliating Genes
1 purpura 30.6 VWF GP1BA
2 von willebrand's disease 30.5 VWF SIGLEC5 GP9 GP1BA
3 thrombocytopenic purpura, autoimmune 30.2 GP6 GP1BA
4 thrombosis 30.1 VWF GP6 GP1BA
5 thrombocytopenia 29.4 VWF GP9 GP6 GP1BB GP1BA GATA1
6 blood platelet disease 29.2 VWF GP9 GP6 GP1BB GP1BA GATA1
7 rare hemorrhagic disorder 10.4
8 acquired von willebrand syndrome 10.2 VWF GP1BA
9 thrombasthenia 10.2 GP9 GP1BA
10 fetal and neonatal alloimmune thrombocytopenia 10.2 GP1BB GP1BA
11 acquired thrombocytopenia 10.2 GP1BB GP1BA
12 angiodysplasia 10.2 VWF SIGLEC5
13 primary thrombocytopenia 10.2 VWF GP1BA
14 autosomal dominant macrothrombocytopenia 10.2 GP1BB GP1BA
15 ventriculomegaly with cystic kidney disease 10.1 GP9 GP1BA
16 bone resorption disease 10.1
17 pre-eclampsia 10.1
18 thrombotic thrombocytopenic purpura 10.1
19 eclampsia 10.1
20 splenomegaly 10.1
21 endocardium disease 10.1 VWF SIGLEC5
22 thrombocytopenia due to platelet alloimmunization 10.1 GP9 GP1BA
23 bleeding disorder, platelet-type, 11 10.1 GP6 GP1BA
24 taqi polymorphism 10.1
25 von willebrand disease, type 2 10.0 VWF SIGLEC5 GP1BA
26 von willebrand disease, type 3 10.0 VWF SIGLEC5 GP1BA
27 factor viii deficiency 10.0 VWF SIGLEC5
28 anus disease 10.0 SIGLEC5 GP6
29 acrokeratoderma, hereditary papulotranslucent 10.0 GP9 GP1BB GP1BA
30 myh-9 related disease 10.0 GP9 GP1BB GP1BA
31 velocardiofacial syndrome 10.0 GP9 GP1BB GP1BA
32 carotid artery thrombosis 9.9 VWF GP6 GP1BA
33 limb ischemia 9.9 VWF SIGLEC5
34 intracranial thrombosis 9.9 VWF GP6 GP1BA
35 coronary thrombosis 9.9 VWF GP6 GP1BA
36 pulmonary embolism 9.9 VWF GP6 GP1BA
37 myeloproliferative syndrome, transient 9.9 GP1BA GATA1
38 hemorrhagic disease 9.9 VWF GP6 GP1BA
39 essential thrombocythemia 9.8 VWF GP1BA GATA1
40 von willebrand disease, type 1 9.8 VWF SIGLEC5 GP6 GP1BA
41 stroke, ischemic 9.8 VWF GP6 GP1BA
42 glanzmann thrombasthenia 1 9.7 VWF GP9 GP6 GP1BA
43 thrombocytopenia with beta-thalassemia, x-linked 9.7 GP9 GP6 GATA1
44 vascular disease 9.6 VWF GP6 GP1BA
45 gray platelet syndrome 9.6 VWF GP9 GP6 GATA1
46 bernard-soulier syndrome 9.2 VWF GP9 GP6 GP1BB GP1BA GATA1
47 blood coagulation disease 9.0 VWF SIGLEC5 GP9 GP6 GP1BB GP1BA

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:

31
# Description HPO Frequency HPO Source Accession
1 prolonged bleeding time 31 HP:0003010
2 intermittent thrombocytopenia 31 HP:0004854

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Pseudo-Von Willebrand Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.17 GATA1 GP1BA GP1BB GP6 GP9 PRDM4

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

MalaCards organs/tissues related to Pseudo-Von Willebrand Disease:

40
Bone, Kidney

Publications for Pseudo-Von Willebrand Disease

Articles related to Pseudo-Von Willebrand Disease:

(show all 34)
# Title Authors PMID Year
1
Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment. 61 6 57 54
8486780 1993
2
Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. 61 6 57 54
8384898 1993
3
Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. 54 57 6
2052556 1991
4
Further characterization of platelet-type von Willebrand's disease in Japan. 57
6333901 1984
5
Platelet-type von Willebrand's disease: characterization of a new bleeding disorder. 57
6286015 1982
6
Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers. 57
6798442 1982
7
Pseudo-von Willebrand's disease. 57
6798443 1982
8
The factor VIII complex: structure and function. 57
6165414 1981
9
Interaction of von Willebrand factor domain A1 with platelet glycoprotein Ibalpha-(1-289). Slow intrinsic binding kinetics mediate rapid platelet adhesion. 61 54
10713059 2000
10
De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease. 61 54
9282797 1997
11
Functional expression of single chain glycoprotein Ib alpha on the surface of COS cells and BHK cells. 54 61
8950788 1996
12
Platelet GPIb-V-IX complex. Structure, function, physiology, and pathology. 61 54
7660135 1995
13
Pseudo (platelet-type) von Willebrand disease in pregnancy: a case report. 61
23327637 2013
14
Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder. 61
21497427 2011
15
Diagnosis of platelet-type von Willebrand disease by flow cytometry. 54
19951970 2010
16
Familial alopecia areata and chronic thrombocytopenia. 61
18489053 2008
17
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. 61
17916098 2007
18
A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene. 54
17264965 2007
19
2B or not 2B? Differential identification of Type 2B, versus pseudo-,von Willebrand disease. 61
17233824 2007
20
2B or not 2B? Differential identification of type 2B, versus pseudo-von Willebrand disease. 61
16911565 2006
21
Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance. 61
16704444 2006
22
Qualitative disorders of platelets and megakaryocytes. 54
16102044 2005
23
Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease. 54
15705799 2005
24
Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. 54
14521605 2003
25
Alterations in the intrinsic properties of the GPIbalpha-VWF tether bond define the kinetics of the platelet-type von Willebrand disease mutation, Gly233Val. 54
12637314 2003
26
Novel gain-of-function mutations of platelet glycoprotein IBalpha by valine mutagenesis in the Cys209-Cys248 disulfide loop. Functional analysis under statis and dynamic conditions. 54
10837490 2000
27
Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group. 61
10850567 2000
28
Adhesive properties of the isolated amino-terminal domain of platelet glycoprotein Ibalpha in a flow field. 61
10393908 1999
29
Expression and functional characterization of an abnormal platelet membrane glycoprotein Ib alpha (Met239 --> Val) reported in patients with platelet-type von Willebrand disease. 54
9226170 1997
30
Mimotope/anti-mimotope probing of structural relationships in platelet glycoprotein Ib alpha. 54
8622976 1996
31
Substitution of Val for Met at residue 239 of platelet glycoprotein Ib alpha in Japanese patients with platelet-type von Willebrand disease. 54
7833477 1995
32
Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease. 54
9371310 1994
33
Conformational energy analysis of the substitution of Val for Gly 233 in a functional region of platelet GPIb alpha in platelet-type von Willebrand disease. 54
1911886 1991
34
Synergistic shortening of the bleeding time by desmopressin and ethamsylate in patients with various constitutional bleeding disorders. 61
1785670 1991

Variations for Pseudo-Von Willebrand Disease

ClinVar genetic disease variations for Pseudo-Von Willebrand Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GP1BA NM_000173.7(GP1BA):c.763A>G (p.Met255Val) SNV Pathogenic 4155 rs121908064 GRCh37: 17:4836662-4836662
GRCh38: 17:4933367-4933367
2 GP1BA NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) SNV Pathogenic 4153 rs121908062 GRCh37: 17:4836645-4836645
GRCh38: 17:4933350-4933350
3 GP1BA NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) SNV Uncertain significance 417940 rs13306411 GRCh37: 17:4836155-4836155
GRCh38: 17:4932860-4932860
4 GP1BA NM_000173.7(GP1BA):c.92T>C (p.Val31Ala) SNV not provided 585094 rs201827537 GRCh37: 17:4835991-4835991
GRCh38: 17:4932696-4932696

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

72
# 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

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:

36
# Name Kegg Source Accession
1 Platelet activation hsa04611

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 9.72 VWF SIGLEC5 GP9 GP1BB GP1BA
2 platelet activation GO:0030168 9.65 VWF GP9 GP6 GP1BB GP1BA
3 blood coagulation GO:0007596 9.63 VWF GP9 GP6 GP1BB GP1BA GATA1
4 regulation of megakaryocyte differentiation GO:0045652 9.4 GP1BA GATA1
5 platelet aggregation GO:0070527 9.37 GP1BA GATA1
6 blood coagulation, intrinsic pathway GO:0007597 9.26 VWF GP9 GP1BB GP1BA
7 hemostasis GO:0007599 9.02 VWF GP9 GP6 GP1BB GP1BA

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

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 8.62 VWF GP6

Sources for Pseudo-Von Willebrand Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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