MCID: QBC001
MIFTS: 42

Quebec Platelet Disorder malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Quebec Platelet Disorder

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OMIM:45 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 spectrozyme have been mentioned in the context of this disorder. Related mouse phenotype cardiovascular system.

Wikipedia:63 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:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Quebec Platelet Disorder, Aliases & Descriptions:

Name: Quebec Platelet Disorder 45 10 41 20 43 47 22 60
Factor V Quebec 41 47
 
Qpd 41


Classifications:

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


External Ids:

OMIM45 601709
Orphanet47 220436
MESH via Orphanet34 C536260
ICD10 via Orphanet26 D69.1
UMLS via Orphanet61 C1866423

Related Diseases for Quebec Platelet Disorder

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

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilia b10.4F10
2retinal vascular occlusion10.4F5
3dysfibrinogenemia10.4F5
4malaria10.4ADAMTSL1
5factor x deficiency10.2F10, F5
6thrombophilia due to antithrombin iii deficiency10.2F10, F5
7hemorrhagic disease10.2F5, F10
8factor vii deficiency10.2F5, F10
9scott syndrome10.2F10, F5
10afibrinogenemia10.2F5, F10
11thrombophilia due to activated protein c resistance10.2F5, F10
12factor v deficiency10.2
13platelet storage pool deficiency10.2
14factor v leiden thrombophilia10.2F10, F5
15pulmonary embolism10.2F5, F10
16coronary stenosis10.2SELP, ADAMTSL1
17thrombotic thrombocytopenic purpura, acquired10.2ADAMTSL1, SELP
18bernard-soulier syndrome, type c10.2
19pemphigus vulgaris10.2PLAU, VCL
20atrial fibrillation10.2SELP, F10
21disseminated intravascular coagulation10.1F5, F10
22bullous pemphigoid10.1VCL, PLAU
23acute respiratory distress syndrome10.1F5, SELP
24blood platelet disease10.1F10, ADAMTSL1, MMRN1
25stroke, ischemic10.1SELP, F5
26microvascular complications of diabetes 110.1SELP, ADAMTSL1
27sickle cell disease10.1SELP, ADAMTSL1
28bone cancer10.1PLAU, SPARC
29gray platelet syndrome10.1SPARC, SELP
30thrombocytosis10.1F10, SELP, ADAMTSL1
31hyperhomocysteinemia10.1SELP, F5
32vitreoretinopathy, neovascular inflammatory10.0ADAMTSL1, SPARC
33osteogenesis imperfecta10.0SPARC, ADAMTSL1
34hemophilia a10.0F10, SELP, F5
35vasculitis10.0ADAMTSL1, SELP
36antiphospholipid syndrome10.0SELP, F10, F5
37thrombophilia due to thrombin defect10.0SELP, F10, F5
38vascular disease10.0F5, MMRN1, SELP
39von willebrand's disease10.0ADAMTSL1, SELP, F5
40noonan syndrome 19.9ADAMTSL1, SELP, VCL
41pulmonary fibrosis9.9ADAMTSL1, SPARC, PLAU
42osteoarthritis9.9SPARC, PLAU, ADAMTSL1
43acute myocardial infarction9.9SELP, F10, SPARC
44diabetes mellitus, insulin-dependent9.9SELP, ADAMTSL1, F10
45preeclampsia/eclampsia 19.9SELP, PLAU, F10, F5
46thrombophilia9.8F10, ADAMTSL1, F5, SELP
47primary hyperoxaluria9.8SPARC, F10, ADAMTSL1
48glioblastoma9.8VCL, ADAMTSL1, PLAU
49ischemia9.8VCL, SELP, F10
50osteosarcoma, somatic9.8SPARC, F10, ADAMTSL1, PLAU

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 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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MGI Mouse Phenotypes related to Quebec Platelet Disorder:

35
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:

6
id Gene Variation 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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PLAU, SELP
2
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
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 Suite gene sharing:

(show top 50)    (show all 113)
idCompoundScoreTop Affiliating Genes
1ecarin4310.0F5, F10
2spectrozyme4310.0F10, F5
3rfviii4310.0F5, F10
4roxifiban439.9F10, SELP
5danaparoid439.9F10, F5
6nadroparin43 1210.9F10, SELP
7kaolin439.8F10, F5
8ximelagatran43 1210.8F5, F10
9ecotin439.8PLAU, F10, F5
10batroxobin439.8F5, SELP
11ancrod439.8F10, F5
12p-amino benzamidine439.8F10, PLAU
13benzamidine43 1210.7F5, PLAU, F10
14antistasin439.6F10, ADAMTSL1
15heparinoids439.6F10, F5
16bivalirudin43 1210.6SELP, F10, F5
17argatroban43 1210.6F5, SELP, F10
18desmopressin43 59 28 1212.6F5, PLAU, SELP
19glutamine439.5F5, PLAU, VCL
20warfarin43 49 24 1212.5F10, F5, SELP
21dermatan sulfate439.3F5, F10, SELP, PLAU
22aprotinin43 1210.2F5, PLAU, SELP, F10
23fucoidan439.2ADAMTSL1, PLAU, SELP
24tirofiban43 1210.2ADAMTSL1, SELP, F10
25sodium dodecylsulfate439.1ADAMTSL1, PLAU, F5
26titanium439.0VCL, SPARC, ADAMTSL1
27atorvastatin43 49 28 24 1212.9SELP, PLAU, F5
28hydrocortisone43 2 59 1211.9F5, ADAMTSL1, PLAU
29latex438.9VCL, ADAMTSL1, SPARC
30chondroitin sulfate43 249.8ADAMTSL1, MMRN1, SPARC
31kininogen438.8F5, ADAMTSL1, PLAU, SELP
32heparan sulfate43 249.8ADAMTSL1, PLAU, F10, SPARC
33protamine438.8F10, ADAMTSL1, SELP, F5
34phospholipid438.8VCL, F10, ADAMTSL1, F5
35prostacyclin438.8F5, SELP, ADAMTSL1, PLAU
36lactate438.7PLAU, F5, SPARC, SELP, F10
37proline438.6ADAMTSL1, F5, VCL, SPARC
38hirudin438.5F10, PLAU, F5, ADAMTSL1, SELP
39dextran sulfate438.4F5, F10, SELP, ADAMTSL1, PLAU
40aspirin43 49 28 2411.4SELP, ADAMTSL1, F10, PLAU, F5
41polysaccharide438.4ADAMTSL1, PLAU, F5, SELP, F10
42aspartate438.4F10, ADAMTSL1, F5, SELP, PLAU
43phosphatidylserine43 28 1210.3ADAMTSL1, SELP, F10, F5, VCL
44retinoic acid43 249.2PLAU, SPARC, F5, SELP, ADAMTSL1
45epinephrine43 24 1210.2MMRN1, ADAMTSL1, SELP, F5, PLAU
46estrogen437.9F5, SPARC, ADAMTSL1, F10, SELP, PLAU
47heparin43 28 24 1210.5F10, ADAMTSL1, SPARC, SELP, VCL, F5
48vegf437.5F5, PLAU, ADAMTSL1, VCL, SELP, SPARC
49cysteine437.5SELP, SPARC, F10, VCL, ADAMTSL1, PLAU
50fibrinogen436.9MMRN1, SPARC, F10, SELP, F5, VCL

GO Terms for genes affiliated with Quebec Platelet Disorder

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Cellular components related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.7SELP, SPARC, PLAU, F5
2platelet alpha granule lumenGO:00310938.6MMRN1, F5, SPARC
3extracellular regionGO:00055767.6F5, PLAU, MMRN1, VCL, F10, SPARC

Biological processes related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:00071558.5F5, MMRN1, VCL, SELP
2platelet degranulationGO:00025767.8F5, VCL, SPARC, SELP, MMRN1
3platelet activationGO:00301687.6SELP, VCL, MMRN1, F5, SPARC
4blood coagulationGO:00075967.2PLAU, SPARC, F10, SELP, VCL, MMRN1

Molecular functions related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.3F5, PLAU, F10

Products for genes affiliated with Quebec Platelet Disorder

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Quebec Platelet Disorder

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet