VWDP
MCID: PSD048
MIFTS: 44

Pseudo-Von Willebrand Disease (VWDP)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Pseudo-Von Willebrand Disease

MalaCards integrated aliases for Pseudo-Von Willebrand Disease:

Name: Pseudo-Von Willebrand Disease 57 11 19 58 73
Von Willebrand Disease, Platelet-Type 57 12 53
Bdplt3 57 11 73
Von Willebrand Disease, Platelet Type 19 71
Platelet Type-Von Willebrand Disease 11 58
Von Willebrand Disease Platelet-Type 11 73
Platelet-Type Bleeding Disorder 3 11 14
Pseudo Von Willebrand Disease 28 5
Pt-Vwd 11 58
Vwdp 57 73
Pseudo-Von Willebrand Disease Type 2b 58
Bleeding Disorder, Platelet-Type, 3 57
Bleeding Disorder Platelet-Type 3 73
Pseudo-Vwd 73

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to giant platelet syndrome and bernard-soulier syndrome, benign, autosomal dominant


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0111056
OMIM® 57 177820
OMIM Phenotypic Series 57 PS231200
MeSH 43 D014842
ICD10 31 D69.8
ICD10 via Orphanet 32 D69.8
UMLS via Orphanet 72 C1280798
Orphanet 58 ORPHA52530
MedGen 40 C1280798
UMLS 71 C1280798

Summaries for Pseudo-Von Willebrand Disease

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 08-Dec-2022)

MalaCards based summary: Pseudo-Von Willebrand Disease, also known as von willebrand disease, platelet-type, is related to factor viii deficiency and qualitative platelet defect. An important gene associated with Pseudo-Von Willebrand Disease is GP1BA (Glycoprotein Ib Platelet Subunit Alpha), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Defects of contact activation system (CAS) and kallikrein/kinin system (KKS). Affiliated tissues include bone marrow, bone and blood and bone marrow, and related phenotypes are prolonged bleeding time and intermittent thrombocytopenia

GARD: 19 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. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.

Orphanet: 58 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. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.

UniProtKB/Swiss-Prot: 73 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: 11 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.

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 top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 factor viii deficiency 30.6 VWF SIGLEC5 F8
2 qualitative platelet defect 30.3 VWF GP1BA ANKRD26
3 thrombotic thrombocytopenic purpura 30.2 VWF GP1BA F8
4 thrombosis 30.2 VWF GP6 GP1BA F8
5 thrombocytopenic purpura, autoimmune 30.2 GP6 GP1BA F8
6 thrombocytopenia due to platelet alloimmunization 30.1 VWF GP9 GP1BA ANKRD26
7 von willebrand's disease 29.8 VWF SIGLEC5 GP9 GP6 GP1BB GP1BA
8 blood platelet disease 29.2 VWF NBEAL2 GP9 GP6 GP1BB GP1BA
9 thrombocytopenia 28.0 VWF NBEAL2 MPIG6B IKZF5 GP9 GP6
10 rare hemorrhagic disorder 10.4
11 purpura 10.3
12 thrombasthenia 10.3 GP9 GP1BA
13 fetal and neonatal alloimmune thrombocytopenia 10.2 GP1BB GP1BA
14 autosomal dominant macrothrombocytopenia 10.2 GP1BB GP1BA
15 primary thrombocytopenia 10.2 VWF GP1BA
16 hemophilia 10.2 VWF F8
17 childhood acute megakaryoblastic leukemia 10.2 GP1BA GATA1
18 marfan syndrome 10.1
19 mccune-albright syndrome 10.1
20 pre-eclampsia 10.1
21 eclampsia 10.1
22 splenomegaly 10.1
23 post-thrombotic syndrome 10.1 VWF F8
24 hemarthrosis 10.1 VWF F8
25 brachydactyly, type d 10.1 VWF F8
26 acrokeratoderma, hereditary papulotranslucent 10.1 GP9 GP1BB GP1BA
27 factor v deficiency 10.1 VWF F8
28 diamond-blackfan anemia 11 10.1 GATA1 ANKRD26
29 factor xiii deficiency 10.1 VWF F8
30 infective endocarditis 10.1 VWF SIGLEC5 GP1BA
31 bleeding disorder, platelet-type, 11 10.1 VWF GP6 GP1BA
32 carotid artery thrombosis 10.1 VWF GP6 GP1BA
33 endocardium disease 10.1 VWF SIGLEC5
34 myeloproliferative syndrome, transient 10.1 GP1BA GATA1
35 bleeding disorder, platelet-type, 8 10.1 NBEAL2 GP1BB
36 thrombophlebitis 10.1 VWF F8
37 factor x deficiency 10.1 VWF F8
38 coronary thrombosis 10.1 VWF GP6 GP1BA
39 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
40 taqi polymorphism 10.1
41 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.1 VPS33B GP1BB
42 thrombophilia due to activated protein c resistance 10.1 VWF F8
43 portal vein thrombosis 10.0 VWF F8
44 immunodeficiency 21 10.0 GATA1 ANKRD26
45 essential thrombocythemia 10.0 VWF GP1BA GATA1
46 autosomal thrombocytopenia with normal platelets 10.0 IKZF5 ANKRD26
47 angiodysplasia 10.0 VWF SIGLEC5 F8
48 factor xi deficiency 10.0 VWF F8
49 intracranial thrombosis 10.0 VWF GP6 F8
50 pulmonary artery disease 10.0 VWF F8

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged bleeding time 30 HP:0003010
2 intermittent thrombocytopenia 30 HP:0004854

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Pseudo-Von Willebrand Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 ANKRD26 F8 GATA1 GP1BA GP1BB GP6
2 immune system MP:0005387 9.65 F8 GATA1 GP6 GP9 IKZF5 MPIG6B
3 hematopoietic system MP:0005397 9.4 F8 GATA1 GP1BA GP1BB GP6 GP9

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 28 GP1BA

Anatomical Context for Pseudo-Von Willebrand Disease

Organs/tissues related to Pseudo-Von Willebrand Disease:

MalaCards : Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

Publications for Pseudo-Von Willebrand Disease

Articles related to Pseudo-Von Willebrand Disease:

(show top 50) (show all 97)
# Title Authors PMID Year
1
Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment. 53 62 57 5
8486780 1993
2
Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. 53 62 57 5
8384898 1993
3
Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. 53 62 57 5
2052556 1991
4
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. 5
34355501 2021
5
Further characterization of platelet-type von Willebrand's disease in Japan. 57
6333901 1984
6
Platelet-type von Willebrand's disease: characterization of a new bleeding disorder. 57
6286015 1982
7
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
8
Pseudo-von Willebrand's disease. 57
6798443 1982
9
The factor VIII complex: structure and function. 57
6165414 1981
10
Diagnosis of platelet-type von Willebrand disease by flow cytometry. 53 62
19951970 2010
11
A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene. 53 62
17264965 2007
12
Qualitative disorders of platelets and megakaryocytes. 53 62
16102044 2005
13
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. 53 62
15705799 2005
14
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. 53 62
14521605 2003
15
Alterations in the intrinsic properties of the GPIbalpha-VWF tether bond define the kinetics of the platelet-type von Willebrand disease mutation, Gly233Val. 53 62
12637314 2003
16
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. 53 62
10837490 2000
17
Interaction of von Willebrand factor domain A1 with platelet glycoprotein Ibalpha-(1-289). Slow intrinsic binding kinetics mediate rapid platelet adhesion. 53 62
10713059 2000
18
De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease. 53 62
9282797 1997
19
Expression and functional characterization of an abnormal platelet membrane glycoprotein Ib alpha (Met239 --> Val) reported in patients with platelet-type von Willebrand disease. 53 62
9226170 1997
20
Functional expression of single chain glycoprotein Ib alpha on the surface of COS cells and BHK cells. 53 62
8950788 1996
21
Mimotope/anti-mimotope probing of structural relationships in platelet glycoprotein Ib alpha. 53 62
8622976 1996
22
Substitution of Val for Met at residue 239 of platelet glycoprotein Ib alpha in Japanese patients with platelet-type von Willebrand disease. 53 62
7833477 1995
23
Platelet GPIb-V-IX complex. Structure, function, physiology, and pathology. 53 62
7660135 1995
24
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. 53 62
1911886 1991
25
Platelet dysfunction in platelet-type von Willebrand disease due to the constitutive triggering of the Lyn-PECAM1 inhibitory pathway. 62
34407603 2022
26
A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD. 62
34619770 2022
27
Megakaryocyte-bone cell interactions: lessons from mouse models of experimental myelofibrosis and related disorders. 62
34910601 2022
28
Regulation of platelet numbers and sizes by signaling pathways. 62
33222582 2021
29
Letter in response to the article "Guidance on the diagnosis and management of platelet-type von Willebrand disease: A communication from the Platelet Physiology Subcommittee of the ISTH". 62
33650245 2021
30
Guidance on the diagnosis and management of PT-VWD: A communication from the platelet physiology subcommittee of the ISTH- REPLY to Comment on the disease' nomenclature. 62
33650252 2021
31
Guidance on the diagnosis and management of platelet-type von Willebrand disease: A communication from the Platelet Physiology Subcommittee of the ISTH. 62
32279414 2020
32
Platelet-type von Willebrand disease: Local disorder of the platelet GPIbα β-switch drives high-affinity binding to von Willebrand factor. 62
31448872 2019
33
Mechanisms of thrombocytopenia in platelet-type von Willebrand disease. 62
30655369 2019
34
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. 62
30332551 2018
35
Acquired von Willebrand Disease Secondary to Clear Cell Renal Cell Carcinoma. 62
30065959 2018
36
PT-VWD posing diagnostic and therapeutic challenges - small case series. 62
27819553 2017
37
Thrombocytopathy leading to impaired in vivo haemostasis and thrombosis in platelet type von Willebrand disease. 62
28004055 2017
38
Ristocetin-Induced Platelet Aggregation (RIPA) and RIPA Mixing Studies. 62
28804849 2017
39
Utility of the von Willebrand factor collagen binding assay in the diagnosis of von Willebrand disease. 62
27622788 2017
40
A novel platelet-type von Willebrand disease mutation (GP1BA p.Met255Ile) associated with type 2B "Malmö/New York" von Willebrand disease. 62
27683759 2016
41
Platelet type von Willebrand disease and registry report: communication from the SSC of the ISTH. 62
26882161 2016
42
Platelet-type von Willebrand Disease: Diagnostic Challenges. Flaws and Pitfalls Experienced in the THROMKID Quality Project. 62
25985448 2015
43
Delayed Diagnosis of Platelet-type von Willebrand Disease in a 72-year-old Lady. 62
25985451 2015
44
Systematic analysis of bleeding phenotype in PT-VWD compared to type 2B VWD using an electronic bleeding questionnaire. 62
25063765 2014
45
Identification of p.W246L as a novel mutation in the GP1BA gene responsible for platelet-type von Willebrand disease. 62
24474090 2014
46
Platelet-type von Willebrand disease: toward an improved understanding of the "sticky situation". 62
24497122 2014
47
Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib. 62
24391089 2014
48
Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect. 62
23934752 2013
49
Pseudo (platelet-type) von Willebrand disease in pregnancy: a case report. 62
23327637 2013
50
A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in an Iranian family with platelet-type von Willebrand disease. 62
23014764 2012

Variations for Pseudo-Von Willebrand Disease

ClinVar genetic disease variations for Pseudo-Von Willebrand Disease:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GP1BA NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp) DEL Pathogenic
1677260 GRCh37: 17:4837225-4837233
GRCh38: 17:4933930-4933938
2 GP1BA NM_000173.7(GP1BA):c.793G>T (p.Asp265Tyr) SNV Pathogenic
1677262 GRCh37: 17:4836692-4836692
GRCh38: 17:4933397-4933397
3 GP1BA NM_000173.7(GP1BA):c.746G>A (p.Gly249Asp) SNV Pathogenic
1677263 GRCh37: 17:4836645-4836645
GRCh38: 17:4933350-4933350
4 GP1BA NM_000173.7(GP1BA):c.737G>T (p.Trp246Leu) SNV Pathogenic
1684364 GRCh37: 17:4836636-4836636
GRCh38: 17:4933341-4933341
5 GP1BA NM_000173.7(GP1BA):c.763A>G (p.Met255Val) SNV Pathogenic
4155 rs121908064 GRCh37: 17:4836662-4836662
GRCh38: 17:4933367-4933367
6 GP1BA NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) SNV Pathogenic/Likely Pathogenic
4153 rs121908062 GRCh37: 17:4836645-4836645
GRCh38: 17:4933350-4933350
7 GP1BA NM_000173.7(GP1BA):c.380G>A (p.Arg127Gln) SNV Likely Pathogenic
1684362 GRCh37: 17:4836279-4836279
GRCh38: 17:4932984-4932984
8 GP1BA NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) SNV Uncertain Significance
417940 rs13306411 GRCh37: 17:4836155-4836155
GRCh38: 17:4932860-4932860
9 GP1BA NM_000173.7(GP1BA):c.580C>T (p.Leu194Phe) SNV Uncertain Significance
1693270 rs368111193 GRCh37: 17:4836479-4836479
GRCh38: 17:4933184-4933184
10 GP1BA NM_000173.7(GP1BA):c.1183C>T (p.Pro395Ser) SNV Uncertain Significance
1275749 GRCh37: 17:4837082-4837082
GRCh38: 17:4933787-4933787
11 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:

73
# 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 rs1597639057

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 VWF MPIG6B GP9 GP6 GP1BB GP1BA
2
Show member pathways
11.89 VWF GP9 GP6 GP1BB GP1BA F8
3 11.79 VWF GP9 GP1BB GP1BA
4
Show member pathways
11.6 VWF GP9 GP1BB GP1BA
5 11.27 VWF GP9 GP6 GP1BB
6
Show member pathways
10.45 VWF GP9 GP6 GP1BB GP1BA

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 platelet alpha granule GO:0031091 9.26 VWF VPS33B
2 glycoprotein Ib-IX-V complex GO:1990779 9.1 GP9 GP1BB GP1BA

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 10.18 VWF SIGLEC5 GP9 GP1BB GP1BA
2 platelet activation GO:0030168 9.97 VWF GP6 GP1BB GP1BA
3 release of sequestered calcium ion into cytosol GO:0051209 9.91 GP9 GP1BB GP1BA
4 platelet formation GO:0030220 9.88 NBEAL2 MPIG6B GATA1
5 blood coagulation, intrinsic pathway GO:0007597 9.86 GP9 GP1BB GP1BA F8
6 megakaryocyte development GO:0035855 9.85 VPS33B MPIG6B GP9 GP1BB GP1BA
7 positive regulation of platelet activation GO:0010572 9.8 GP1BA GP1BB GP9
8 megakaryocyte differentiation GO:0030219 9.76 MPIG6B GATA1
9 blood coagulation GO:0007596 9.73 VWF MPIG6B GP9 GP6 GP1BB GP1BA
10 hemostasis GO:0007599 9.17 VWF GP9 GP6 GP1BB GP1BA F8

Sources for Pseudo-Von Willebrand Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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