QPD
MCID: QBC001
MIFTS: 34

Quebec Platelet Disorder (QPD) malady

Blood category

Summaries for Quebec Platelet Disorder

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 bernard-soulier syndrome type c. An important gene associated with Quebec Platelet Disorder is PLAU (plasminogen activator, urokinase), and among its related pathways are Common Pathway and amb2 Integrin signaling. The compounds warfarin and estrogen 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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Aliases & Descriptions:

quebec platelet disorder 43 20 22 47 45 49 61
factor v quebec 43 49
qpd 43


External Ids:

OMIM47 601709
MESH via Orphanet36 C536260
ICD10 via Orphanet26 D69.1
UMLS via Orphanet62 C1866423

Related Diseases for Quebec Platelet Disorder

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1platelet storage pool deficiency10.2
2bernard-soulier syndrome type c10.2
3stomach cancer10.0PLAU
4protein c deficiency10.0F5
5retinal vascular occlusion10.0F5
6dysfibrinogenemia10.0F5
7stroke, ischemic10.0F5
8factor xii deficiency10.0F5
9glomerulonephritis10.0ADAMTSL1
10malaria10.0ADAMTSL1
11hepatitis10.0F10
12portal vein thrombosis10.0F5
13sarcoma10.0VCL
14meningioma10.0SPARC
15severe pre-eclampsia10.0F5
16asthma10.0MMRN1, F10
17oral cancer10.0PLAU
18peritonitis10.0SELP
19polycythemia vera10.0SELP
20pulmonary embolism10.0F10, F5
21factor x deficiency10.0F5, F10
22antithrombin iii deficiency10.0F5, F10
23hemorrhagic disease10.0F5, F10
24arthritis10.0F10, ADAMTSL1
25factor vii deficiency10.0F5, F10
26afibrinogenemia10.0F5, F10
27leukemia10.0ADAMTSL1, F10
28scott syndrome10.0F5, F10
29pregnancy loss10.0F10, F5
30intermittent claudication10.0SELP
31bone carcinoma10.0SPARC, PLAU
32proliferative vitreoretinopathy10.0ADAMTSL1, SPARC
33carotid stenosis10.0SELP
34fibrosarcoma10.0PLAU, SPARC
35bullous pemphigoid10.0PLAU, VCL
36hepatocellular carcinoma10.0ADAMTSL1, F10, PLAU
37blood platelet disease10.0F10, MMRN1, ADAMTSL1
38sickle cell disease10.0SELP, ADAMTSL1
39proliferative diabetic retinopathy10.0SELP, ADAMTSL1
40gray platelet syndrome10.0SELP, SPARC
41thrombotic thrombocytopenic purpura, acquired10.0SELP, ADAMTSL1
42adult respiratory distress syndrome10.0F5, SELP
43vasculitis10.0SELP, ADAMTSL1
44coronary stenosis10.0SELP, ADAMTSL1
45glioblastoma multiforme10.0PLAU, ADAMTSL1, VCL
46factor viii deficiency10.0F10, SELP, F5
47colorectal cancer10.0SPARC, PLAU, SELP
48thromboembolism10.0F5, F10, SELP
49venous thrombosis10.0F10, SELP, F5
50antiphospholipid syndrome10.0F10, SELP, F5

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



Diseases related to quebec platelet disorder

Clinical Features for Quebec Platelet Disorder

Sources:
47OMIM
See all sources

Clinical features from OMIM:

601709

Clinical synopsis from OMIM:

601709

Drugs & Therapeutics for Quebec Platelet Disorder

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Quebec Platelet Disorder:

id Genetic test Affiliating Genes
1 Quebec Platelet Disorder20 22 PLAU

Anatomical Context for Quebec Platelet Disorder

Animal Models for Quebec Platelet Disorder or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Quebec Platelet Disorder:

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

Publications for Quebec Platelet Disorder

Sources:
51PubMed
See all sources

Articles related to Quebec Platelet Disorder:

(show all 15)
idTitleAuthorsYear
1
Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. (22234747)
2012
2
Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. (22102275)
2011
3
Quebec platelet disorder. (21495923)
2011
4
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. (20007542)
2010
5
Quebec platelet disorder. (20688024)
2010
6
Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. (19029443)
2009
7
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. (18988861)
2009
8
Quebec platelet disorder: features, pathogenesis and treatment. (18277131)
2008
9
Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. (18600101)
2008
10
Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. (16689763)
2006
11
Bleeding risks associated with inheritance of the Quebec platelet disorder. (15026313)
2004
12
Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder. (12888877)
2003
13
Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. (11435291)
2001
14
Fibrinogen degradation products in patients with the Quebec platelet disorder. (9163623)
1997
15
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

Genetic Variations for Quebec Platelet Disorder

Expression for genes affiliated with Quebec Platelet Disorder

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 53R&D Systems
See all sources

Compounds for genes affiliated with Quebec Platelet Disorder

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Quebec Platelet Disorder according to GeneCards/GeneDecks:

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1warfarin45 50 11 2413.3SELP
2estrogen4510.1ADAMTSL1
3ecarin4510.0F5, F10
4rfviii4510.0F10, F5
5spectrozyme4510.0F5, F10
6danaparoid4510.0F10, F5
7roxifiban459.9SELP, F10
8ximelagatran45 1110.9F10, F5
9p-amino benzamidine459.9F10, PLAU
10ancrod459.9F5, F10
11nadroparin45 1110.9SELP, F10
12kaolin459.9F5, F10
13batroxobin459.8F5, SELP
14ecotin459.8F10, F5, PLAU
15benzamidine45 1110.7PLAU, F10, F5
16heparinoids459.7F10, F5
17fondaparinux459.7F10, F5
18aspartate459.7ADAMTSL1, F10
19antistasin459.6F10, ADAMTSL1
20bivalirudin45 1110.6F5, F10, SELP
21argatroban45 1110.6SELP, F10, F5
22desmopressin45 60 29 1112.6PLAU, F5, SELP
23dermatan sulfate459.3PLAU, F10, F5, SELP
24tyrosine sulfate459.2SELP, F5
25aprotinin45 1110.2PLAU, F10, F5, SELP
26fucoidan459.2PLAU, ADAMTSL1, SELP
27tirofiban45 1110.2F10, ADAMTSL1, SELP
28titanium459.1VCL, ADAMTSL1, SPARC
29glutamine459.0VCL, PLAU, F5, F10
30chondroitin sulfate45 249.8SPARC, ADAMTSL1, MMRN1
31kininogen458.8PLAU, ADAMTSL1, SELP, F5
32sodium dodecylsulfate458.8F5, ADAMTSL1, PLAU
33heparan sulfate45 249.8F10, ADAMTSL1, SPARC, PLAU
34protamine458.8F5, F10, SELP, ADAMTSL1
35phospholipid458.8F10, F5, VCL, ADAMTSL1
36prostacyclin458.7ADAMTSL1, F5, SELP, PLAU
37latex458.7SPARC, VCL, ADAMTSL1
38lactate458.7SELP, PLAU, F10, F5, SPARC
39proline458.5F5, VCL, SPARC, ADAMTSL1
40hirudin458.5ADAMTSL1, SELP, PLAU, F10, F5
41dextran sulfate458.5F10, ADAMTSL1, PLAU, F5, SELP
42aspirin45 50 29 2411.4F10, F5, ADAMTSL1, SELP, PLAU
43polysaccharide458.4PLAU, SELP, ADAMTSL1, F5, F10
44phosphatidylserine45 29 1110.3SELP, VCL, F10, F5, ADAMTSL1
45heparin45 29 11 2411.2F10, VCL, SELP, SPARC, ADAMTSL1
46epinephrine45 11 2410.2ADAMTSL1, SELP, MMRN1, PLAU, F5
47retinoic acid45 249.1SELP, PLAU, F5, ADAMTSL1, SPARC
48vegf457.5SPARC, F10, ADAMTSL1, SELP, VCL, PLAU
49cysteine457.5VCL, SPARC, F5, PLAU, ADAMTSL1, SELP
50fibrinogen456.9F5, F10, MMRN1, PLAU, ADAMTSL1, SPARC

GO Terms for genes affiliated with Quebec Platelet Disorder

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310938.8SPARC, MMRN1, F5
2extracellular spaceGO:0056158.7SPARC, SELP, PLAU, F5
3extracellular regionGO:0055767.4F5, F10, MMRN1, PLAU, VCL, SPARC

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

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

Products for genes affiliated with Quebec Platelet Disorder

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Quebec Platelet Disorder

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet