QPD
MCID: QBC001
MIFTS: 45

Quebec Platelet Disorder (QPD) malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Quebec Platelet Disorder

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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:47 601709

Aliases & Classifications for Quebec Platelet Disorder

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS 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 43 20 22 47 45 49 62
factor v quebec 43 49
qpd 43


External Ids:

OMIM47 601709
MESH via Orphanet36 C536260
ICD10 via Orphanet26 D69.1
UMLS via Orphanet63 C1866423

Related Diseases for Quebec Platelet Disorder

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Sources:
17GeneCards, 18GeneDecks
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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:
47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Quebec Platelet Disorder

Search NIH Clinical Center for Quebec Platelet Disorder

Genetic Tests for Quebec Platelet Disorder

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Quebec Platelet Disorder:

id Genetic test Affiliating Genes
1 Quebec Platelet Disorder20 22 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:
37MGI
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MGI Mouse Phenotypes related to Quebec Platelet Disorder:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.4F5, PLAU, VCL, SELP, F10

Publications for Quebec Platelet Disorder

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52PubMed
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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, 15Gene 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:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 54R&D Systems, 30KEGG
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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 Pathway38
Complement and Coagulation Cascades38
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:
45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 24HMDB, 3BitterDB
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Compounds related to Quebec Platelet Disorder according to GeneCards/GeneDecks:

(show top 50)    (show all 113)
idCompoundScoreTop Affiliating Genes
1ecarin4510.0F10, F5
2rfviii4510.0F10, F5
3spectrozyme4510.0F10, F5
4roxifiban459.9SELP, F10
5danaparoid459.9F5, F10
6p-amino benzamidine459.9F10, PLAU
7nadroparin45 1110.9F10, SELP
8kaolin459.8F10, F5
9ecotin459.8F5, PLAU, F10
10batroxobin459.8F5, SELP
11ximelagatran45 1110.8F10, F5
12benzamidine45 1110.7F5, PLAU, F10
13ancrod459.7F10, F5
14antistasin459.6F10, ADAMTSL1
15heparinoids459.6F5, F10
16bivalirudin45 1110.6F10, SELP, F5
17argatroban45 1110.6F5, SELP, F10
18desmopressin45 61 29 1112.6SELP, PLAU, F5
19glutamine459.5VCL, PLAU, F5
20warfarin45 51 24 1112.5F5, SELP, F10
21dermatan sulfate459.3F10, SELP, PLAU, F5
22aprotinin45 1110.2F10, SELP, PLAU, F5
23fucoidan459.2PLAU, ADAMTSL1, SELP
24tirofiban45 1110.2F10, SELP, ADAMTSL1
25sodium dodecylsulfate459.1F5, PLAU, ADAMTSL1
26titanium459.0ADAMTSL1, VCL, SPARC
27atorvastatin45 51 29 24 1112.9SELP, PLAU, F5
28hydrocortisone45 3 61 1111.9F5, PLAU, ADAMTSL1
29latex458.9SPARC, VCL, ADAMTSL1
30chondroitin sulfate45 249.8SPARC, MMRN1, ADAMTSL1
31kininogen458.8SELP, ADAMTSL1, PLAU, F5
32heparan sulfate45 249.8SPARC, F10, ADAMTSL1, PLAU
33protamine458.8F5, ADAMTSL1, SELP, F10
34phospholipid458.8F10, VCL, ADAMTSL1, F5
35prostacyclin458.8SELP, ADAMTSL1, PLAU, F5
36lactate458.7SPARC, F10, SELP, PLAU, F5
37proline458.6F5, ADAMTSL1, VCL, SPARC
38hirudin458.5F10, SELP, ADAMTSL1, PLAU, F5
39dextran sulfate458.4F10, SELP, ADAMTSL1, PLAU, F5
40aspirin45 51 29 2411.4F10, SELP, ADAMTSL1, PLAU, F5
41polysaccharide458.4F10, SELP, ADAMTSL1, PLAU, F5
42aspartate458.4F10, SELP, ADAMTSL1, PLAU, F5
43phosphatidylserine45 29 1110.3F10, SELP, VCL, ADAMTSL1, F5
44retinoic acid45 249.2SPARC, SELP, ADAMTSL1, PLAU, F5
45epinephrine45 24 1110.2F5, PLAU, ADAMTSL1, MMRN1, SELP
46estrogen457.9SPARC, F10, SELP, ADAMTSL1, PLAU, F5
47heparin45 29 24 1110.5SPARC, F10, SELP, VCL, ADAMTSL1, PLAU
48vegf457.5SPARC, F10, SELP, VCL, ADAMTSL1, PLAU
49cysteine457.5SPARC, F10, SELP, VCL, ADAMTSL1, PLAU
50fibrinogen456.9F5, SPARC, F10, SELP, VCL, MMRN1

GO Terms for genes affiliated with Quebec Platelet Disorder

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Sources:
16Gene 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

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet