QPD
MCID: QBC001
MIFTS: 47

Quebec Platelet Disorder (QPD) malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Quebec Platelet Disorder

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OMIM:46 Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis....601709 more...

MalaCards based summary: Quebec Platelet Disorder, also known as factor v quebec, is related to hemophilia b and retinal vascular occlusion, and has symptoms including autosomal dominant inheritance, menorrhagia and epistaxis. An important gene associated with Quebec Platelet Disorder is PLAU (plasminogen activator, urokinase), and among its related pathways are amb2 Integrin signaling and Complement and coagulation cascades. The compounds ecarin and rfviii have been mentioned in the context of this disorder. Related mouse phenotype cardiovascular system.

Wikipedia:64 Quebec Platelet Disorder (QPD) is a rare, autosomal dominant bleeding disorder described in a family... more...

Aliases & Classifications for Quebec Platelet Disorder

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Sources:
42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Quebec Platelet Disorder, Aliases & Descriptions:

Name: Quebec Platelet Disorder 42 21 23 46 44 48 61
Factor V Quebec 42 48
 
Qpd 42


Classifications:

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


External Ids:

OMIM46 601709
MESH via Orphanet35 C536260
ICD10 via Orphanet27 D69.1
UMLS via Orphanet62 C1866423

Related Diseases for Quebec Platelet Disorder

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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
1hemophilia b10.4F10
2retinal vascular occlusion10.4F5
3malaria10.4ADAMTSL1
4dysfibrinogenemia10.4F5
5factor x deficiency10.3F10, F5
6antithrombin iii deficiency10.2F10, F5
7hemorrhagic disease10.2F5, F10
8factor vii deficiency10.2F5, F10
9scott syndrome10.2F10, F5
10afibrinogenemia10.2F5, F10
11platelet storage pool deficiency10.2
12factor v deficiency10.2
13pulmonary embolism10.2F5, F10
14coronary stenosis10.2SELP, ADAMTSL1
15pregnancy loss10.2F5, F10
16thrombotic thrombocytopenic purpura, acquired10.2ADAMTSL1, SELP
17pemphigus vulgaris10.2PLAU, VCL
18bernard-soulier syndrome type c10.2
19disseminated intravascular coagulation10.2F5, F10
20bullous pemphigoid10.1VCL, PLAU
21adult respiratory distress syndrome10.1F5, SELP
22blood platelet disease10.1F10, ADAMTSL1, MMRN1
23stroke, ischemic10.1SELP, F5
24proliferative diabetic retinopathy10.1SELP, ADAMTSL1
25sickle cell disease10.1SELP, ADAMTSL1
26bone cancer10.1PLAU, SPARC
27hyperhomocysteinemia10.1SELP, F5
28thrombocytosis10.1F10, SELP, ADAMTSL1
29gray platelet syndrome10.1SPARC, SELP
30proliferative vitreoretinopathy10.1ADAMTSL1, SPARC
31osteogenesis imperfecta10.0SPARC, ADAMTSL1
32vasculitis10.0ADAMTSL1, SELP
33factor viii deficiency10.0F10, SELP, F5
34antiphospholipid syndrome10.0SELP, F10, F5
35thromboembolism10.0F5, F10, SELP
36venous thrombosis10.0SELP, F10, F5
37von willebrand's disease10.0ADAMTSL1, SELP, F5
38vascular disease10.0F5, MMRN1, SELP
39lung cancer10.0PLAU, VCL, ADAMTSL1
40cerebral malaria10.0ADAMTSL1, SELP, VCL
41noonan syndrome10.0ADAMTSL1, SELP, VCL
42pulmonary fibrosis10.0ADAMTSL1, SPARC, PLAU
43acute myocardial infarction9.9SELP, F10, SPARC
44osteoarthritis9.9SPARC, PLAU, ADAMTSL1
45diabetes mellitus9.9SELP, ADAMTSL1, F10
46pre-eclampsia9.9SELP, PLAU, F10, F5
47cerebrovascular disease9.9MMRN1, F5, SELP, F10
48thrombophilia9.8F10, ADAMTSL1, F5, SELP
49primary hyperoxaluria9.8SPARC, F10, ADAMTSL1
50factor v leiden thrombophilia9.8SELP, ADAMTSL1, F10, F5

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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Symptoms by clinical synopsis from OMIM:

601709

Clinical features from OMIM:

601709

HPO human phenotypes related to Quebec Platelet Disorder:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 menorrhagia HP:0000132
3 epistaxis HP:0000421
4 bruising susceptibility HP:0000978
5 thrombocytopenia HP:0001873
6 joint hemorrhage HP:0005261
7 impaired epinephrine-induced platelet aggregation HP:0008148

Drugs & Therapeutics for Quebec Platelet Disorder

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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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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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MGI Mouse Phenotypes related to Quebec Platelet Disorder:

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

Publications for Quebec Platelet Disorder

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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

Variations for Quebec Platelet Disorder

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Clinvar genetic disease variations for Quebec Platelet Disorder:

7
id Gene Name Type Significance SNP ID Assembly Location
1PLAUNC_000010.11: g.73899258_73977195dup77938duplicationPathogenicGRCh37Chr 10, 75659016: 75736953

Expression for genes affiliated with Quebec Platelet Disorder

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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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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
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
9.3F10, PLAU, F5
3
Show member pathways
9.3F10, PLAU, F5
4
Show member pathways
7.9VCL, SELP, F5, SPARC, MMRN1
5
Show member pathways
7.2SELP, F10, VCL, MMRN1, PLAU, F5

Compounds for genes affiliated with Quebec Platelet Disorder

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

(show top 50)    (show all 113)
idCompoundScoreTop Affiliating Genes
1ecarin4410.0F10, F5
2rfviii4410.0F10, F5
3spectrozyme4410.0F10, F5
4roxifiban449.9SELP, F10
5danaparoid449.9F5, F10
6p-amino benzamidine449.9F10, PLAU
7nadroparin44 1210.9F10, SELP
8kaolin449.8F10, F5
9ecotin449.8F5, PLAU, F10
10batroxobin449.8F5, SELP
11ximelagatran44 1210.8F10, F5
12benzamidine44 1210.7F5, PLAU, F10
13ancrod449.7F10, F5
14antistasin449.6F10, ADAMTSL1
15heparinoids449.6F5, F10
16bivalirudin44 1210.6F10, SELP, F5
17argatroban44 1210.6F5, SELP, F10
18desmopressin44 60 29 1212.6SELP, PLAU, F5
19glutamine449.5VCL, PLAU, F5
20warfarin44 50 25 1212.5F5, SELP, F10
21dermatan sulfate449.3F10, SELP, PLAU, F5
22aprotinin44 1210.2F10, SELP, PLAU, F5
23fucoidan449.2PLAU, ADAMTSL1, SELP
24tirofiban44 1210.2F10, SELP, ADAMTSL1
25sodium dodecylsulfate449.1F5, PLAU, ADAMTSL1
26titanium449.0ADAMTSL1, VCL, SPARC
27atorvastatin44 50 29 25 1212.9SELP, PLAU, F5
28hydrocortisone44 3 60 1211.9F5, PLAU, ADAMTSL1
29latex448.9SPARC, VCL, ADAMTSL1
30chondroitin sulfate44 259.8SPARC, MMRN1, ADAMTSL1
31kininogen448.8SELP, ADAMTSL1, PLAU, F5
32heparan sulfate44 259.8SPARC, F10, ADAMTSL1, PLAU
33protamine448.8F5, ADAMTSL1, SELP, F10
34phospholipid448.8F10, VCL, ADAMTSL1, F5
35prostacyclin448.8SELP, ADAMTSL1, PLAU, F5
36lactate448.7SPARC, F10, SELP, PLAU, F5
37proline448.6F5, ADAMTSL1, VCL, SPARC
38hirudin448.5F10, SELP, ADAMTSL1, PLAU, F5
39dextran sulfate448.4F10, SELP, ADAMTSL1, PLAU, F5
40aspirin44 50 29 2511.4F10, SELP, ADAMTSL1, PLAU, F5
41polysaccharide448.4F10, SELP, ADAMTSL1, PLAU, F5
42aspartate448.4F10, SELP, ADAMTSL1, PLAU, F5
43phosphatidylserine44 29 1210.3F10, SELP, VCL, ADAMTSL1, F5
44retinoic acid44 259.2SPARC, SELP, ADAMTSL1, PLAU, F5
45epinephrine44 25 1210.2F5, PLAU, ADAMTSL1, MMRN1, SELP
46estrogen447.9SPARC, F10, SELP, ADAMTSL1, PLAU, F5
47heparin44 29 25 1210.5SPARC, F10, SELP, VCL, ADAMTSL1, PLAU
48vegf447.5SPARC, F10, SELP, VCL, ADAMTSL1, PLAU
49cysteine447.5SPARC, F10, SELP, VCL, ADAMTSL1, PLAU
50fibrinogen446.9F5, SPARC, F10, SELP, VCL, MMRN1

GO Terms for genes affiliated with Quebec Platelet Disorder

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.7SELP, SPARC, PLAU, F5
2platelet alpha granule lumenGO:0310938.6MMRN1, F5, SPARC
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:0025767.8F5, VCL, SPARC, SELP, MMRN1
3platelet activationGO:0301687.6SELP, VCL, MMRN1, F5, SPARC
4blood coagulationGO:0075967.2PLAU, SPARC, F10, SELP, VCL, MMRN1

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
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  • Lysates
  • Antibodies
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Sources for Quebec Platelet Disorder

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet