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QPD
MCID: QBC001
MIFTS: 44
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Quebec Platelet Disorder (QPD)
Categories:
Blood diseases, Genetic diseases, Muscle diseases, Rare diseases
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MalaCards integrated aliases for Quebec Platelet Disorder:
Characteristics:Orphanet epidemiological data:58
quebec platelet disorder
Inheritance: Autosomal dominant; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
bleeding is usually delayed-onset after challenge good response to fibrinolytic inhibitors prevalence of 1 in 300,000 in quebec HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Muscle diseases
ICD10:
33
Orphanet: 58
Rare haematological diseases External Ids:
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OMIM® :
57
Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by Diamandis et al., 2009). (601709) (Updated 05-Mar-2021)
MalaCards based summary : Quebec Platelet Disorder, also known as factor v quebec, is related to factor v deficiency and blood platelet disease. An important gene associated with Quebec Platelet Disorder is PLAU (Plasminogen Activator, Urokinase), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Adhesion. Related phenotypes are thrombocytopenia and epistaxis Disease Ontology : 12 A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material basis in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 220436DefinitionQuebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.Visit the Orphanet disease page for more resources. UniProtKB/Swiss-Prot : 73 Quebec platelet disorder: An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. Wikipedia : 74 Quebec platelet disorder (QPD) is a rare autosomal dominant bleeding disorder first described in a... more... |
Human phenotypes related to Quebec Platelet Disorder:31 (show all 6)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:601709 (Updated 05-Mar-2021) |
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Cochrane evidence based reviews: quebec platelet disorder |
Articles related to Quebec Platelet Disorder:(show all 42)
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Genes related to Quebec Platelet Disorder (2 elite genes):(show all 16) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Quebec Platelet Disorder:6 (show top 50) (show all 65)
Copy number variations for Quebec Platelet Disorder from CNVD:7
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Search
GEO
for disease gene expression data for Quebec Platelet Disorder.
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Pathways related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:
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Cellular components related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:
Biological processes related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:
Molecular functions related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:
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