QPD
MCID: QBC001
MIFTS: 39

Quebec Platelet Disorder (QPD) malady

Blood diseases category

Summaries for Quebec Platelet Disorder

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 personality disorder and platelet storage pool deficiency. 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:46 601709

Aliases & Classifications for Quebec Platelet Disorder

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

quebec platelet disorder 42 20 22 46 44 48 60
factor v quebec 42 48
qpd 42


External Ids:

OMIM46 601709
MESH via Orphanet35 C536260
ICD10 via Orphanet26 D69.1
UMLS via Orphanet61 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 83)
idRelated DiseaseScoreTop Affiliating Genes
1personality disorder10.3
2platelet storage pool deficiency10.2
3factor v deficiency10.2
4bernard-soulier syndrome type c10.1
5stomach cancer10.0PLAU
6protein c deficiency10.0F5
7retinal vascular occlusion10.0F5
8dysfibrinogenemia10.0F5
9stroke, ischemic10.0F5
10factor xii deficiency10.0F5
11glomerulonephritis10.0ADAMTSL1
12malaria10.0ADAMTSL1
13hepatitis10.0F10
14portal vein thrombosis10.0F5
15sarcoma10.0VCL
16meningioma10.0SPARC
17severe pre-eclampsia10.0F5
18asthma10.0MMRN1, F10
19oral cancer10.0PLAU
20peritonitis10.0SELP
21polycythemia vera10.0SELP
22pulmonary embolism10.0F10, F5
23factor x deficiency10.0F5, F10
24antithrombin iii deficiency10.0F5, F10
25hemorrhagic disease10.0F5, F10
26arthritis10.0F10, ADAMTSL1
27factor vii deficiency10.0F5, F10
28afibrinogenemia10.0F5, F10
29leukemia10.0ADAMTSL1, F10
30scott syndrome10.0F5, F10
31pregnancy loss10.0F10, F5
32intermittent claudication10.0SELP
33bone carcinoma10.0SPARC, PLAU
34proliferative vitreoretinopathy10.0ADAMTSL1, SPARC
35carotid stenosis10.0SELP
36fibrosarcoma10.0PLAU, SPARC
37bullous pemphigoid10.0PLAU, VCL
38hepatocellular carcinoma10.0ADAMTSL1, F10, PLAU
39blood platelet disease10.0F10, MMRN1, ADAMTSL1
40sickle cell disease10.0SELP, ADAMTSL1
41proliferative diabetic retinopathy10.0SELP, ADAMTSL1
42gray platelet syndrome10.0SELP, SPARC
43thrombotic thrombocytopenic purpura, acquired10.0SELP, ADAMTSL1
44adult respiratory distress syndrome10.0F5, SELP
45vasculitis10.0SELP, ADAMTSL1
46coronary stenosis10.0SELP, ADAMTSL1
47glioblastoma multiforme10.0PLAU, ADAMTSL1, VCL
48factor viii deficiency10.0F10, SELP, F5
49colorectal cancer10.0SPARC, PLAU, SELP
50thromboembolism10.0F5, F10, SELP

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



Diseases related to quebec platelet disorder

Clinical Features for Quebec Platelet Disorder

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Sources:
46OMIM
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Clinical features from OMIM:

601709

Clinical synopsis from OMIM:

601709

Drugs & Therapeutics for Quebec Platelet Disorder

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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:
36MGI
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MGI Mouse Phenotypes related to Quebec Platelet Disorder:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.4SELP, VCL, PLAU, F10, F5

Publications for Quebec Platelet Disorder

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Genetic Variations for Quebec Platelet Disorder

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Expression for genes affiliated with Quebec Platelet Disorder

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Sources:
1BioGPS, 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:
53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 52R&D Systems
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Compounds for genes affiliated with Quebec Platelet Disorder

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Quebec Platelet Disorder according to GeneCards/GeneDecks:

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.3SELP
2estrogen4410.1ADAMTSL1
3ecarin4410.0F10, F5
4rfviii4410.0F5, F10
5spectrozyme4410.0F5, F10
6danaparoid4410.0F5, F10
7roxifiban449.9F10, SELP
8p-amino benzamidine449.9F10, PLAU
9kaolin449.9F5, F10
10ancrod449.9F5, F10
11nadroparin44 1110.9F10, SELP
12ximelagatran44 1110.8F5, F10
13batroxobin449.8F5, SELP
14ecotin449.8F5, F10, PLAU
15benzamidine44 1110.7F5, F10, PLAU
16heparinoids449.7F10, F5
17fondaparinux449.7F10, F5
18aspartate449.7F10, ADAMTSL1
19antistasin449.6ADAMTSL1, F10
20bivalirudin44 1110.6SELP, F10, F5
21argatroban44 1110.6F5, F10, SELP
22desmopressin44 59 28 1112.6SELP, PLAU, F5
23dermatan sulfate449.3SELP, PLAU, F10, F5
24tyrosine sulfate449.2SELP, F5
25aprotinin44 1110.2SELP, PLAU, F10, F5
26fucoidan449.2ADAMTSL1, SELP, PLAU
27tirofiban44 1110.2ADAMTSL1, SELP, F10
28titanium449.1ADAMTSL1, SPARC, VCL
29glutamine449.0VCL, PLAU, F10, F5
30chondroitin sulfate44 249.8ADAMTSL1, SPARC, MMRN1
31kininogen448.8F5, PLAU, SELP, ADAMTSL1
32sodium dodecylsulfate448.8F5, PLAU, ADAMTSL1
33heparan sulfate44 249.8F10, PLAU, SPARC, ADAMTSL1
34protamine448.8ADAMTSL1, SELP, F10, F5
35phospholipid448.8F5, F10, VCL, ADAMTSL1
36prostacyclin448.7F5, PLAU, SELP, ADAMTSL1
37latex448.7VCL, SPARC, ADAMTSL1
38lactate448.7F5, F10, PLAU, SELP, SPARC
39proline448.5F5, VCL, SPARC, ADAMTSL1
40hirudin448.5F5, F10, PLAU, SELP, ADAMTSL1
41dextran sulfate448.5ADAMTSL1, SELP, PLAU, F10, F5
42aspirin44 49 28 2411.4F5, F10, PLAU, SELP, ADAMTSL1
43polysaccharide448.4F5, F10, PLAU, SELP, ADAMTSL1
44phosphatidylserine44 28 1110.3F5, F10, VCL, SELP, ADAMTSL1
45heparin44 28 11 2411.2F10, VCL, SELP, SPARC, ADAMTSL1
46epinephrine44 11 2410.2F5, MMRN1, PLAU, SELP, ADAMTSL1
47retinoic acid44 249.1F5, PLAU, SELP, SPARC, ADAMTSL1
48vegf447.5F5, F10, PLAU, VCL, SELP, SPARC
49cysteine447.5F5, F10, PLAU, VCL, SELP, SPARC
50fibrinogen446.9ADAMTSL1, F5, F10, MMRN1, PLAU, VCL

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
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:0025767.8F5, MMRN1, VCL, SELP, SPARC
3platelet activationGO:0301687.6F5, MMRN1, VCL, SELP, SPARC
4blood coagulationGO:0075967.2SPARC, SELP, VCL, PLAU, MMRN1, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet