Pseudo-Von Willebrand Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Purpura and other haemorrhagic conditions

Other specified haemorrhagic conditions

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

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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.

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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:

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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

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Drugs & Therapeutics for Pseudo-Von Willebrand Disease

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

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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

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Anatomical Context for Pseudo-Von Willebrand Disease

Organs/tissues related to Pseudo-Von Willebrand Disease:

MalaCards : Bone Marrow, Bone

ODiseA: Blood And Bone Marrow

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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	Murata M...Ware J	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	Russell SD...Roth GJ	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	Miller JL...Finch CN	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	Megy K...Freson K	34355501	2021
5	Further characterization of platelet-type von Willebrand's disease in Japan. ⁵⁷	Takahashi H...Zimmerman TS	6333901	1984
6	Platelet-type von Willebrand's disease: characterization of a new bleeding disorder. ⁵⁷	Miller JL...Castella A	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	Weiss HJ...Rogers J	6798442	1982
8	Pseudo-von Willebrand's disease. ⁵⁷	Hoyer LW	6798443	1982
9	The factor VIII complex: structure and function. ⁵⁷	Hoyer LW	6165414	1981
10	Diagnosis of platelet-type von Willebrand disease by flow cytometry. ⁵³ ⁶²	Giannini S...Gresele P	19951970	2010
11	A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene. ⁵³ ⁶²	Nurden P...Nurden A	17264965	2007
12	Qualitative disorders of platelets and megakaryocytes. ⁵³ ⁶²	Nurden AT	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	Othman M...O'Shaughnessy DF	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	Matsubara Y...Ikeda Y	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	Doggett TA...Diacovo TG	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	Dong J...Lopez JA	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	Miura S...Sadler JE	10713059	2000
18	De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease. ⁵³ ⁶²	Kunishima S...Kamiya T	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	Moriki T...Ikeda Y	9226170	1997
20	Functional expression of single chain glycoprotein Ib alpha on the surface of COS cells and BHK cells. ⁵³ ⁶²	Petersen EJ...Sixma JJ	8950788	1996
21	Mimotope/anti-mimotope probing of structural relationships in platelet glycoprotein Ib alpha. ⁵³ ⁶²	Miller JL...Lyle VA	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	Takahashi H...Watanabe K	7833477	1995
23	Platelet GPIb-V-IX complex. Structure, function, physiology, and pathology. ⁵³ ⁶²	Clemetson KJ...Clemetson JM	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	Pincus MR...Miller JL	1911886	1991
25	Platelet dysfunction in platelet-type von Willebrand disease due to the constitutive triggering of the Lyn-PECAM1 inhibitory pathway. ⁶²	Bury L...Gresele P	34407603	2022
26	A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD. ⁶²	Bury L...Gresele P	34619770	2022
27	Megakaryocyte-bone cell interactions: lessons from mouse models of experimental myelofibrosis and related disorders. ⁶²	Stavnichuk M...Komarova SV	34910601	2022
28	Regulation of platelet numbers and sizes by signaling pathways. ⁶²	Pawinwongchai J...Rojnuckarin P	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	Weiss HJ...Meyer D	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	Othman M...Gresele P	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	Othman M...Gresele P	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	Tischer A...Auton M	31448872	2019
33	Mechanisms of thrombocytopenia in platelet-type von Willebrand disease. ⁶²	Bury L...Gresele P	30655369	2019
34	A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. ⁶²	Trizuljak J...Doubek M	30332551	2018
35	Acquired von Willebrand Disease Secondary to Clear Cell Renal Cell Carcinoma. ⁶²	Odom B...Rosenberg B	30065959	2018
36	PT-VWD posing diagnostic and therapeutic challenges - small case series. ⁶²	Sanchez-Luceros A...Othman M	27819553	2017
37	Thrombocytopathy leading to impaired in vivo haemostasis and thrombosis in platelet type von Willebrand disease. ⁶²	Kaur H...Othman M	28004055	2017
38	Ristocetin-Induced Platelet Aggregation (RIPA) and RIPA Mixing Studies. ⁶²	Frontroth JP...Favaloro EJ	28804849	2017
39	Utility of the von Willebrand factor collagen binding assay in the diagnosis of von Willebrand disease. ⁶²	Favaloro EJ	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	Lavenu-Bombled C...Lanza F	27683759	2016
41	Platelet type von Willebrand disease and registry report: communication from the SSC of the ISTH. ⁶²	Othman M...Subcommittees on von Willebrand Disease and Platelet Physiology	26882161	2016
42	Platelet-type von Willebrand Disease: Diagnostic Challenges. Flaws and Pitfalls Experienced in the THROMKID Quality Project. ⁶²	Maurer M...Streif W	25985448	2015
43	Delayed Diagnosis of Platelet-type von Willebrand Disease in a 72-year-old Lady. ⁶²	Maurer M...Streif W	25985451	2015
44	Systematic analysis of bleeding phenotype in PT-VWD compared to type 2B VWD using an electronic bleeding questionnaire. ⁶²	Kaur H...Othman M	25063765	2014
45	Identification of p.W246L as a novel mutation in the GP1BA gene responsible for platelet-type von Willebrand disease. ⁶²	Woods AI...Lazzari MA	24474090	2014
46	Platelet-type von Willebrand disease: toward an improved understanding of the "sticky situation". ⁶²	Othman M...Emsley J	24497122	2014
47	Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib. ⁶²	Blenner MA...Springer TA	24391089	2014
48	Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect. ⁶²	Othman M...Emsley J	23934752	2013
49	Pseudo (platelet-type) von Willebrand disease in pregnancy: a case report. ⁶²	Grover N...Chou MR	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	Enayat S...Othman M	23014764	2012

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Genes for Pseudo-Von Willebrand Disease

Genes related to Pseudo-Von Willebrand Disease (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	1712.75	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	2052556 8384898 8486780 (more) 34355501 15705799 8950788 19951970 10713059 14521605 17264965 9371310 8622976 16102044 1911886 7660135 7833477 9226170 9282797
2	VWF	Von Willebrand Factor	Protein Coding	17.95	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19951970 1911886 7660135 (more) 12637314 8486780 10837490 2052556 9226170
3	GP1BB	Glycoprotein Ib Platelet Subunit Beta	Protein Coding	6.88	DISEASES inferred ¹⁴
4	GP9	Glycoprotein IX Platelet	Protein Coding	6.79	DISEASES inferred ¹⁴
5	SIGLEC5	Sialic Acid Binding Ig Like Lectin 5	Protein Coding	5.87	DISEASES inferred ¹⁴ ¹⁴
6	GP6	Glycoprotein VI Platelet	Protein Coding	5.81	DISEASES inferred ¹⁴
7	ANKRD26	Ankyrin Repeat Domain Containing 26	Protein Coding	5.81	DISEASES inferred ¹⁴
8	GATA1	GATA Binding Protein 1	Protein Coding	5.77	DISEASES inferred ¹⁴
9	F8	Coagulation Factor VIII	Protein Coding	5.7	DISEASES inferred ¹⁴
10	NBEAL2	Neurobeachin Like 2	Protein Coding	5.65	DISEASES inferred ¹⁴
11	IKZF5	IKAROS Family Zinc Finger 5	Protein Coding	5.53	DISEASES inferred ¹⁴
12	MPIG6B	Megakaryocyte And Platelet Inhibitory Receptor G6b	Protein Coding	5.52	DISEASES inferred ¹⁴
13	VPS33B	VPS33B Late Endosome And Lysosome Associated	Protein Coding	5.47	DISEASES inferred ¹⁴

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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

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Expression for Pseudo-Von Willebrand Disease

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

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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	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.82	VWF MPIG6B GP9 GP6 GP1BB GP1BA
2	Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) ⁶⁶ Show member pathways Blood clotting cascade ⁷⁴ Blood Coagulation Signaling Pathways ⁶⁵ Common Pathway of Fibrin Clot Formation ⁶⁶ Complement and coagulation cascades ⁷⁴ Defective F8 binding to von Willebrand factor ⁶⁶ Defective F8 cleavage by thrombin ⁶⁶ Defective F8 sulfation at Y1699 ⁶⁶ Defective F9 activation ⁶⁶ Defective F9 secretion ⁶⁶ Defective factor IX causes hemophilia B ⁶⁶ Defective factor VIII causes hemophilia A ⁶⁶ Defective factor XII causes hereditary angioedema ⁶⁶ Defective gamma-carboxylation of F9 ⁶⁶ Diseases of hemostasis ⁶⁶ Extrinsic Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Prothrombin Activation Pathway ⁶⁴ Formation of Fibrin Clot (Clotting Cascade) ⁶⁶ Intrinsic Pathway of Fibrin Clot Formation ⁶⁶ Thrombin/protease-activated receptor (PAR) pathway ⁶¹	11.89	VWF GP9 GP6 GP1BB GP1BA F8
3	22q11.2 copy number variation syndrome ⁷⁴	11.79	VWF GP9 GP1BB GP1BA
4	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.6	VWF GP9 GP1BB GP1BA
5	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.27	VWF GP9 GP6 GP1BB
6	Platelet Adhesion to exposed collagen ⁶⁶ Show member pathways GP1b-IX-V activation signalling ⁶⁶	10.45	VWF GP9 GP6 GP1BB GP1BA

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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

Sources for Pseudo-Von Willebrand Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

VWDP MCID: PSD048 MIFTS: 44	Pseudo-Von Willebrand Disease (VWDP) Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Pseudo-Von Willebrand Disease (VWDP)

Aliases & Classifications for Pseudo-Von Willebrand Disease

MalaCards integrated aliases for Pseudo-Von Willebrand Disease:

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Prevelance:

OMIM®:

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Summaries for Pseudo-Von Willebrand Disease

Related Diseases for Pseudo-Von Willebrand Disease

Diseases in the Von Willebrand's Disease family:

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

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

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Sources for Pseudo-Von Willebrand Disease