MCID: QBC001
MIFTS: 44

Quebec Platelet Disorder

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Quebec Platelet Disorder

MalaCards integrated aliases for Quebec Platelet Disorder:

Name: Quebec Platelet Disorder 53 12 72 49 55 71 28 13 51 41 69
Factor V Quebec 53 12 49 55 71
Bdplt5 53 12 71
Qpd 53 49 71
Bleeding Disorder, Platelet-Type, 5; Bdplt5 53
Bleeding Disorder, Platelet-Type, 5 53
Platelet-Type Bleeding Disorder 5 12
Bleeding Disorder Platelet-Type 5 71

Characteristics:

Orphanet epidemiological data:

55
quebec platelet disorder
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
bleeding is usually delayed-onset after challenge
good response to fibrinolytic inhibitors
prevalence of 1 in 300,000 in quebec


HPO:

31
quebec platelet disorder:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 601709
Disease Ontology 12 DOID:0111050
ICD10 32 D69.1
Orphanet 55 ORPHA220436
MESH via Orphanet 42 C536260
UMLS via Orphanet 70 C1866423
ICD10 via Orphanet 33 D69.1
MedGen 39 C1866423
UMLS 69 C1866423

Summaries for Quebec Platelet Disorder

OMIM : 53 Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by Diamandis et al., 2009). (601709)

MalaCards based summary : Quebec Platelet Disorder, also known as factor v quebec, is related to factor v deficiency and buerger disease, and has symptoms including thrombocytopenia, epistaxis and bruising susceptibility. An important gene associated with Quebec Platelet Disorder is PLAU (Plasminogen Activator, Urokinase), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Adhesion. Related phenotypes are cardiovascular system and integument

UniProtKB/Swiss-Prot : 71 Quebec platelet disorder: An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins.

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 220436Disease definitionQuebec plateletsyndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.Visit the Orphanet disease page for more resources. Last updated: 1/1/2014

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has material basis in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.

Wikipedia : 72 Quebec Platelet Disorder (QPD) is a rare, autosomal dominant bleeding disorder described in a family... more...

Related Diseases for Quebec Platelet Disorder

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 factor v deficiency 32.1 F5 PLAU
2 buerger disease 10.4 PLAU SERPINE1
3 blood platelet disease 10.4
4 acute cor pulmonale 10.4 SERPINE1 VCL
5 acute pulmonary heart disease 10.4 SERPINE1 VCL
6 paranasal sinus disease 10.3 PLAU SERPINE1
7 chronic venous insufficiency 10.3 SELP SERPINE1
8 shwartzman phenomenon 10.3 CD63 SERPINE1
9 heparin-induced thrombocytopenia 10.2 F10 SELP
10 venous insufficiency 10.2 SELP SERPINE1
11 gray platelet syndrome 10.2 SELP SPARC
12 intermittent claudication 10.1 SELP SERPINE1
13 inferior vena cava interruption 10.1 F5 SERPINE1
14 amaurosis fugax 10.1 F5 SERPINE1
15 livedoid vasculopathy 10.1 F5 SERPINE1
16 sticky platelet syndrome 10.1 F5 SERPINE1
17 ischemic colitis 10.1 F5 SERPINE1
18 essential thrombocythemia 10.0 CD63 SELP SERPINE1
19 cryptogenic cirrhosis 10.0 F5 SERPINE1
20 catastrophic antiphospholipid syndrome 10.0 F5 SERPINE1
21 retinal artery occlusion 10.0 F5 SERPINE1
22 carotid artery thrombosis 10.0 F10 SELP SERPINE1
23 thrombophlebitis 10.0 F5 SERPINE1
24 meningococcemia 10.0 F5 SERPINE1
25 factor xiii deficiency 10.0 F5 SERPINE1
26 post-thrombotic syndrome 10.0 F5 SERPINE1
27 retinal vascular occlusion 10.0 F5 SELP
28 acquired hemophilia 9.9 F10 F5
29 prothrombin deficiency, congenital 9.9 F10 F5
30 intracranial hypertension 9.9 F5 SERPINE1
31 thrombasthenia 9.9 F5 SELP
32 antithrombin iii deficiency 9.8 F10 F5
33 legg-calve-perthes disease 9.8 F5 SELP SERPINE1
34 portal vein thrombosis 9.8 F5 SELP SERPINE1
35 hemophilia a 9.8 F10 F5
36 scott syndrome 9.8 F10 F5
37 thrombocytopenia 9.8
38 cerebrovascular disease 9.8 F5 SELP SERPINE1
39 retinal vein occlusion 9.8 F5 SERPINE1
40 stroke, ischemic 9.7 F5 SELP SERPINE1
41 thrombophilia due to activated protein c resistance 9.7 F10 F5 SERPINE1
42 thrombophilia due to thrombin defect 9.7 F10 F5 SERPINE1
43 pulmonary embolism 9.7 F10 F5 SERPINE1
44 hemorrhagic disease 9.7 F10 F5 SERPINE1
45 vascular disease 9.7 F5 SELP SERPINE1
46 factor x deficiency 9.7 F10 F5
47 thrombophilia 9.7 F10 F5 SERPINE1
48 antiphospholipid syndrome 9.6 F10 F5 SELP
49 von willebrand's disease 9.6 F5 SELP
50 pre-eclampsia 9.5 CD63 F5 SELP SERPINE1

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



Diseases related to Quebec Platelet Disorder

Symptoms & Phenotypes for Quebec Platelet Disorder

Symptoms via clinical synopsis from OMIM:

53
Hematology:
normal platelet morphology
moderate-severe bleeding tendencies (epistaxis, menorrhagia, hemarthrosis, easy bruisability)
thrombocytopenia, mild
mildly decreased to low-normal platelet count (80-150 x 10(9)/l)
bleeding time normal to mildly prolonged
more

Clinical features from OMIM:

601709

Human phenotypes related to Quebec Platelet Disorder:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873
2 epistaxis 31 HP:0000421
3 bruising susceptibility 31 HP:0000978
4 menorrhagia 31 HP:0000132
5 joint hemorrhage 31 HP:0005261
6 impaired epinephrine-induced platelet aggregation 31 HP:0008148

MGI Mouse Phenotypes related to Quebec Platelet Disorder:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 F10 F5 PLAU RECK SELP SERPINE1
2 integument MP:0010771 9.43 SPARC F5 PLAU RECK SELP SERPINE1
3 liver/biliary system MP:0005370 9.02 F5 PLAU RECK SELP SERPINE1

Drugs & Therapeutics for Quebec Platelet Disorder

Search Clinical Trials , NIH Clinical Center for Quebec Platelet Disorder

Cochrane evidence based reviews: quebec platelet disorder

Genetic Tests for Quebec Platelet Disorder

Genetic tests related to Quebec Platelet Disorder:

# Genetic test Affiliating Genes
1 Quebec Platelet Disorder 28 PLAU

Anatomical Context for Quebec Platelet Disorder

Publications for Quebec Platelet Disorder

Articles related to Quebec Platelet Disorder:

(show all 17)
# Title Authors Year
1
Thrombopoietin levels in Quebec platelet disorder-Implications for the mechanism of thrombocytopenia. ( 29388746 )
2018
2
The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes. ( 28301587 )
2017
3
Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. ( 22234747 )
2012
4
Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. ( 22102275 )
2011
5
Quebec platelet disorder. ( 21495923 )
2011
6
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. ( 20007542 )
2010
7
Quebec platelet disorder. ( 20688024 )
2010
8
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. ( 18988861 )
2009
9
Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. ( 19029443 )
2009
10
Quebec platelet disorder: features, pathogenesis and treatment. ( 18277131 )
2008
11
Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. ( 18600101 )
2008
12
Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. ( 16689763 )
2006
13
Bleeding risks associated with inheritance of the Quebec platelet disorder. ( 15026313 )
2004
14
Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder. ( 12888877 )
2003
15
Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. ( 11435291 )
2001
16
Fibrinogen degradation products in patients with the Quebec platelet disorder. ( 9163623 )
1997
17
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

ClinVar genetic disease variations for Quebec Platelet Disorder:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLAU NC_000010.11: g.73899258_73977195dup77938 duplication Pathogenic GRCh37 Chromosome 10, 75659016: 75736953

Copy number variations for Quebec Platelet Disorder from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 45962 10 75670862 75677259 Mutation PLAU Quebec platelet disorder

Expression for Quebec Platelet Disorder

Search GEO for disease gene expression data for Quebec Platelet Disorder.

Pathways for Quebec Platelet Disorder

GO Terms for Quebec Platelet Disorder

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.88 CD63 F5 PLAU SELP SERPINE1 SPARC
2 platelet alpha granule membrane GO:0031092 9.32 SELP SPARC
3 extracellular region GO:0005576 9.32 ADAMTSL1 CD63 F10 F5 MMRN1 PLAU
4 platelet alpha granule GO:0031091 9.26 F5 SPARC
5 platelet alpha granule lumen GO:0031093 9.26 F5 MMRN1 SERPINE1 SPARC
6 platelet dense granule membrane GO:0031088 9.16 CD63 SELP
7 plasma membrane GO:0005886 10.02 CD63 F10 F5 PLAU RECK SELP

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.54 RECK SERPINE1 SPARC
2 negative regulation of cell migration GO:0030336 9.43 RECK SERPINE1 VCL
3 pigmentation GO:0043473 9.4 CD63 SPARC
4 hemostasis GO:0007599 9.33 F10 F5 PLAU
5 fibrinolysis GO:0042730 9.32 PLAU SERPINE1
6 blood coagulation GO:0007596 9.26 F10 F5 MMRN1 PLAU
7 platelet degranulation GO:0002576 9.17 CD63 F5 MMRN1 SELP SERPINE1 SPARC

Sources for Quebec Platelet Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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