QPD
MCID: QBC001
MIFTS: 45

Quebec Platelet Disorder (QPD) malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Quebec Platelet Disorder

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Quebec Platelet Disorder (QPD) is a rare, autosomal dominant bleeding disorder described in a family... more...

MalaCards: Quebec Platelet Disorder, also known as factor v quebec, is related to platelet storage pool deficiency and factor v deficiency. An important gene associated with Quebec Platelet Disorder is PLAU (plasminogen activator, urokinase), and among its related pathways are amb2 Integrin signaling and Formation of Fibrin Clot (Clotting Cascade). The compounds ecarin and rfviii have been mentioned in the context of this disorder. Related mouse phenotype cardiovascular system.

Description from OMIM:48 601709

Aliases & Classifications for Quebec Platelet Disorder

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Aliases & Descriptions:

quebec platelet disorder 44 21 23 48 46 50 63
factor v quebec 44 50
qpd 44


External Ids:

OMIM48 601709
MESH via Orphanet37 C536260
ICD10 via Orphanet27 D69.1
UMLS via Orphanet64 C1866423

Related Diseases for Quebec Platelet Disorder

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18GeneCards, 19GeneDecks
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Diseases related to Quebec Platelet Disorder via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1platelet storage pool deficiency10.2
2factor v deficiency10.2
3bernard-soulier syndrome type c10.2
4hemophilia b10.1F10
5retinal vascular occlusion10.1F5
6malaria10.1ADAMTSL1
7dysfibrinogenemia10.1F5
8factor x deficiency10.1F10, F5
9antithrombin iii deficiency10.1F5, F10
10hemorrhagic disease10.1F5, F10
11scott syndrome10.1F5, F10
12factor vii deficiency10.1F5, F10
13afibrinogenemia10.1F5, F10
14pulmonary embolism10.0F5, F10
15coronary stenosis10.0ADAMTSL1, SELP
16pregnancy loss10.0F5, F10
17thrombotic thrombocytopenic purpura, acquired10.0ADAMTSL1, SELP
18pemphigus vulgaris10.0PLAU, VCL
19bullous pemphigoid10.0PLAU, VCL
20disseminated intravascular coagulation10.0F5, F10
21adult respiratory distress syndrome10.0F5, SELP
22proliferative diabetic retinopathy10.0ADAMTSL1, SELP
23blood platelet disease10.0ADAMTSL1, MMRN1, F10
24stroke, ischemic10.0F5, SELP
25sickle cell disease10.0ADAMTSL1, SELP
26bone carcinoma10.0SPARC, PLAU
27hyperhomocysteinemia10.0SELP, F5
28thrombocytosis10.0ADAMTSL1, SELP, F10
29gray platelet syndrome10.0SELP, SPARC
30proliferative vitreoretinopathy10.0ADAMTSL1, SPARC
31osteogenesis imperfecta10.0SPARC, ADAMTSL1
32vasculitis10.0ADAMTSL1, SELP
33factor viii deficiency10.0F10, SELP, F5
34antiphospholipid syndrome10.0F10, SELP, F5
35thromboembolism10.0F5, SELP, F10
36venous thrombosis10.0F10, SELP, F5
37von willebrand's disease10.0F5, ADAMTSL1, SELP
38vascular disease10.0SELP, MMRN1, F5
39lung cancer10.0PLAU, ADAMTSL1, VCL
40cerebral malaria10.0SELP, VCL, ADAMTSL1
41noonan syndrome10.0ADAMTSL1, VCL, SELP
42pulmonary fibrosis10.0PLAU, ADAMTSL1, SPARC
43acute myocardial infarction10.0SELP, F10, SPARC
44osteoarthritis10.0SPARC, ADAMTSL1, PLAU
45diabetes mellitus10.0ADAMTSL1, SELP, F10
46pre-eclampsia10.0F10, SELP, PLAU, F5
47cerebrovascular disease10.0F5, MMRN1, SELP, F10
48thrombophilia10.0F5, ADAMTSL1, SELP, F10
49primary hyperoxaluria10.0SPARC, F10, ADAMTSL1
50factor v leiden thrombophilia10.0F5, ADAMTSL1, SELP, F10

Graphical network of the top 20 diseases related to Quebec Platelet Disorder:



Diseases related to quebec platelet disorder

Symptoms for Quebec Platelet Disorder

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

601709

Clinical features from OMIM:

601709

Drugs & Therapeutics for Quebec Platelet Disorder

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Quebec Platelet Disorder

Drug clinical trials:

Search ClinicalTrials for Quebec Platelet Disorder

Search NIH Clinical Center for Quebec Platelet Disorder

Search CenterWatch for Quebec Platelet Disorder

Genetic Tests for Quebec Platelet Disorder

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21GeneTests, 23GTR
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Genetic tests related to Quebec Platelet Disorder:

id Genetic test Affiliating Genes
1 Quebec Platelet Disorder21 23 PLAU

Anatomical Context for Quebec Platelet Disorder

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Animal Models for Quebec Platelet Disorder or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Quebec Platelet Disorder:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.4F5, PLAU, VCL, SELP, F10

Publications for Quebec Platelet Disorder

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53PubMed
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Articles related to Quebec Platelet Disorder:

(show all 14)
idTitleAuthorsYear
1
Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. (22102275)
2011
2
Quebec platelet disorder. (21495923)
2011
3
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. (20007542)
2010
4
Quebec platelet disorder. (20688024)
2010
5
Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. (19029443)
2009
6
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. (18988861)
2009
7
Quebec platelet disorder: features, pathogenesis and treatment. (18277131)
2008
8
Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. (18600101)
2008
9
Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. (16689763)
2006
10
Bleeding risks associated with inheritance of the Quebec platelet disorder. (15026313)
2004
11
Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder. (12888877)
2003
12
Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. (11435291)
2001
13
Fibrinogen degradation products in patients with the Quebec platelet disorder. (9163623)
1997
14
Studies of a second family with the Quebec platelet disorder: evidence that the degradation of the alpha-granule membrane and its soluble contents are not secondary to a defect in targeting proteins to alpha-granules. (9028947)
1997

Variations for Quebec Platelet Disorder

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Quebec Platelet Disorder:

1
id Gene Name Type Significance SNP ID Assembly Location
1PLAUNC_000010.11: g.73899258_73977195dup77938duplicationPathogenic/card/quebec_platelet_disorderGRCh37Chr 10, 75659016: 75736953

Expression for genes affiliated with Quebec Platelet Disorder

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Quebec Platelet Disorder

Search GEO for disease gene expression data for Quebec Platelet Disorder.

Pathways for genes affiliated with Quebec Platelet Disorder

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 55R&D Systems, 31KEGG
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Pathways related to Quebec Platelet Disorder according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PLAU, SELP
2
Show member pathways
9.3F5, PLAU, F10
3
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
9.3F10, PLAU, F5
4
Show member pathways
7.9SPARC, SELP, VCL, MMRN1, F5
5
Show member pathways
7.2F5, PLAU, MMRN1, VCL, SELP, F10

Compounds for genes affiliated with Quebec Platelet Disorder

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Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB, 25HMDB, 3BitterDB
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Compounds related to Quebec Platelet Disorder according to GeneCards/GeneDecks:

(show top 50)    (show all 113)
idCompoundScoreTop Affiliating Genes
1ecarin4610.0F10, F5
2rfviii4610.0F10, F5
3spectrozyme4610.0F10, F5
4roxifiban469.9SELP, F10
5danaparoid469.9F5, F10
6p-amino benzamidine469.9F10, PLAU
7nadroparin46 1210.9F10, SELP
8kaolin469.8F10, F5
9ecotin469.8F5, PLAU, F10
10batroxobin469.8F5, SELP
11ximelagatran46 1210.8F10, F5
12benzamidine46 1210.7F5, PLAU, F10
13ancrod469.7F10, F5
14antistasin469.6F10, ADAMTSL1
15heparinoids469.6F5, F10
16bivalirudin46 1210.6F10, SELP, F5
17argatroban46 1210.6F5, SELP, F10
18desmopressin46 62 30 1212.6SELP, PLAU, F5
19glutamine469.5VCL, PLAU, F5
20warfarin46 52 25 1212.5F5, SELP, F10
21dermatan sulfate469.3F10, SELP, PLAU, F5
22aprotinin46 1210.2F10, SELP, PLAU, F5
23fucoidan469.2PLAU, ADAMTSL1, SELP
24tirofiban46 1210.2F10, SELP, ADAMTSL1
25sodium dodecylsulfate469.1F5, PLAU, ADAMTSL1
26titanium469.0ADAMTSL1, VCL, SPARC
27atorvastatin46 52 30 25 1212.9SELP, PLAU, F5
28hydrocortisone46 3 62 1211.9F5, PLAU, ADAMTSL1
29latex468.9SPARC, VCL, ADAMTSL1
30chondroitin sulfate46 259.8SPARC, MMRN1, ADAMTSL1
31kininogen468.8SELP, ADAMTSL1, PLAU, F5
32heparan sulfate46 259.8SPARC, F10, ADAMTSL1, PLAU
33protamine468.8F5, ADAMTSL1, SELP, F10
34phospholipid468.8F10, VCL, ADAMTSL1, F5
35prostacyclin468.8SELP, ADAMTSL1, PLAU, F5
36lactate468.7SPARC, F10, SELP, PLAU, F5
37proline468.6F5, ADAMTSL1, VCL, SPARC
38hirudin468.5F10, SELP, ADAMTSL1, PLAU, F5
39dextran sulfate468.4F10, SELP, ADAMTSL1, PLAU, F5
40aspirin46 52 30 2511.4F10, SELP, ADAMTSL1, PLAU, F5
41polysaccharide468.4F10, SELP, ADAMTSL1, PLAU, F5
42aspartate468.4F10, SELP, ADAMTSL1, PLAU, F5
43phosphatidylserine46 30 1210.3F10, SELP, VCL, ADAMTSL1, F5
44retinoic acid46 259.2SPARC, SELP, ADAMTSL1, PLAU, F5
45epinephrine46 25 1210.2F5, PLAU, ADAMTSL1, MMRN1, SELP
46estrogen467.9SPARC, F10, SELP, ADAMTSL1, PLAU, F5
47heparin46 30 25 1210.5SPARC, F10, SELP, VCL, ADAMTSL1, PLAU
48vegf467.5SPARC, F10, SELP, VCL, ADAMTSL1, PLAU
49cysteine467.5SPARC, F10, SELP, VCL, ADAMTSL1, PLAU
50fibrinogen466.9F5, SPARC, F10, SELP, VCL, MMRN1

GO Terms for genes affiliated with Quebec Platelet Disorder

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17Gene Ontology
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Cellular components related to Quebec Platelet Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.7F5, PLAU, SELP, SPARC
2platelet alpha granule lumenGO:0310938.6SPARC, MMRN1, F5
3extracellular regionGO:0055767.6F5, PLAU, MMRN1, VCL, F10, SPARC

Biological processes related to Quebec Platelet Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:0071558.5F5, MMRN1, VCL, SELP
2platelet degranulationGO:0025767.8SPARC, SELP, VCL, MMRN1, F5
3platelet activationGO:0301687.6SPARC, SELP, VCL, MMRN1, F5
4blood coagulationGO:0075967.2F5, PLAU, MMRN1, VCL, SELP, F10

Molecular functions related to Quebec Platelet Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.3F5, PLAU, F10

Products for genes affiliated with Quebec Platelet Disorder

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Quebec Platelet Disorder

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet