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VWDP
MCID: PSD048
MIFTS: 43
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Pseudo-Von Willebrand Disease (VWDP)
Categories:
Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Pseudo-Von Willebrand Disease:
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:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases Cardiovascular diseases Smell/Taste diseases
ICD10:
34
35
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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. |
Human phenotypes related to Pseudo-Von Willebrand Disease:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:177820MGI Mouse Phenotypes related to Pseudo-Von Willebrand Disease:47
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Articles related to Pseudo-Von Willebrand Disease:
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Genes related to Pseudo-Von Willebrand Disease (1 elite genes):(show all 19) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Pseudo-Von Willebrand Disease:76
ClinVar genetic disease variations for Pseudo-Von Willebrand Disease:6
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Search
GEO
for disease gene expression data for Pseudo-Von Willebrand Disease.
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Pathways related to Pseudo-Von Willebrand Disease according to KEGG:38
Pathways related to Pseudo-Von Willebrand Disease according to GeneCards Suite gene sharing:(show all 12)
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Cellular components related to Pseudo-Von Willebrand Disease according to GeneCards Suite gene sharing:
Biological processes related to Pseudo-Von Willebrand Disease according to GeneCards Suite gene sharing:(show all 15)
Molecular functions related to Pseudo-Von Willebrand Disease according to GeneCards Suite gene sharing:
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