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QPD
MCID: QBC001
MIFTS: 43
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Quebec Platelet Disorder (QPD)
Categories:
Blood diseases, Genetic 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:56
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:
ICD10:
33
Orphanet: 58
Rare haematological diseases External Ids:
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OMIM :
56
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)
MalaCards based summary : Quebec Platelet Disorder, also known as factor v quebec, is related to factor v deficiency and disseminated intravascular coagulation. 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. Affiliated tissues include testes, and related phenotypes are thrombocytopenia and epistaxis Disease Ontology : 12 An inherited blood coagulation 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. NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 220436 Definition Quebec 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 described in a family... more... |
Human phenotypes related to Quebec Platelet Disorder:31 (show all 6)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:601709 |
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Cochrane evidence based reviews: quebec platelet disorder |
MalaCards organs/tissues related to Quebec Platelet Disorder:40
Testes
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Articles related to Quebec Platelet Disorder:(show all 36)
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Genes related to Quebec Platelet Disorder (1 elite genes):(show all 12) - 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:
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