MCID: QBC001
MIFTS: 43

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 57 12 76 53 59 75 29 13 55 6 44 73
Factor V Quebec 57 12 53 59 75
Bdplt5 57 12 75
Qpd 57 53 75
Bleeding Disorder, Platelet-Type, 5; Bdplt5 57
Bleeding Disorder, Platelet-Type, 5 57
Platelet-Type Bleeding Disorder 5 12
Bleeding Disorder Platelet-Type 5 75
Platelet Disorder, Quebec 40

Characteristics:

Orphanet epidemiological data:

59
quebec platelet disorder
Inheritance: Autosomal dominant;

OMIM:

57
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:

32
quebec platelet disorder:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601709
Disease Ontology 12 DOID:0111050
ICD10 33 D69.1
Orphanet 59 ORPHA220436
MESH via Orphanet 45 C536260
UMLS via Orphanet 74 C1866423
ICD10 via Orphanet 34 D69.1
MedGen 42 C1866423
UMLS 73 C1866423

Summaries for Quebec Platelet Disorder

OMIM : 57 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. 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 thrombocytopenia and epistaxis

UniProtKB/Swiss-Prot : 75 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 : 53 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.

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 : 76 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 54)
# Related Disease Score Top Affiliating Genes
1 factor v deficiency 30.5 F10 F5
2 buerger disease 10.6 PLAU SERPINE1
3 paranasal sinus disease 10.5 PLAU SERPINE1
4 acute cor pulmonale 10.4 SERPINE1 VCL
5 blood platelet disease 10.4
6 acute pulmonary heart disease 10.4 SERPINE1 VCL
7 chronic venous insufficiency 10.4 SELP SERPINE1
8 venous insufficiency 10.4 SELP SERPINE1
9 gray platelet syndrome 10.3 SELP SPARC
10 heparin-induced thrombocytopenia 10.3 F10 SELP
11 thrombotic thrombocytopenic purpura 10.3 ADAMTSL1 SELP
12 intermittent claudication 10.3 SELP SERPINE1
13 shwartzman phenomenon 10.2 CD63 SERPINE1
14 inferior vena cava interruption 10.0 F5 SERPINE1
15 amaurosis fugax 10.0 F5 SERPINE1
16 livedoid vasculopathy 10.0 F5 SERPINE1
17 sticky platelet syndrome 10.0 F5 SERPINE1
18 catastrophic antiphospholipid syndrome 10.0 F5 SERPINE1
19 cryptogenic cirrhosis 10.0 F5 SERPINE1
20 retinal artery occlusion 10.0 F5 SERPINE1
21 thrombophlebitis 10.0 F5 SERPINE1
22 meningococcemia 10.0 F5 SERPINE1
23 factor xiii deficiency 10.0 F5 SERPINE1
24 post-thrombotic syndrome 9.9 F5 SERPINE1
25 retinal vascular occlusion 9.9 F5 SELP
26 carotid artery thrombosis 9.9 F10 SELP SERPINE1
27 acquired hemophilia 9.8 F10 F5
28 intracranial hypertension 9.8 F5 SERPINE1
29 prothrombin deficiency, congenital 9.8 F10 F5
30 thrombasthenia 9.8 F5 SELP
31 thrombocytopenia 9.8
32 retinal vein occlusion 9.8 F5 SERPINE1
33 antithrombin iii deficiency 9.8 F10 F5
34 essential thrombocythemia 9.8 CD63 SELP SERPINE1
35 scott syndrome 9.7 F10 F5
36 hemophilia a 9.7 F10 F5
37 blood coagulation disease 9.7 F5 SELP
38 legg-calve-perthes disease 9.6 F5 SELP SERPINE1
39 portal vein thrombosis 9.6 F5 SELP SERPINE1
40 cerebrovascular disease 9.5 F5 SELP SERPINE1
41 factor x deficiency 9.5 F10 F5
42 afibrinogenemia 9.5 F10 F5
43 stroke, ischemic 9.4 F5 SELP SERPINE1
44 thrombophilia due to activated protein c resistance 9.4 F10 F5 SERPINE1
45 thrombophilia due to thrombin defect 9.4 F10 F5 SERPINE1
46 thrombophilia 9.4 F10 F5 SERPINE1
47 antiphospholipid syndrome 9.4 F10 F5 SELP
48 von willebrand's disease 9.4 F5 SELP
49 pulmonary embolism 9.1 F10 F5 PLAU SERPINE1
50 vascular disease 9.1 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:

57
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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 epistaxis 32 HP:0000421
3 bruising susceptibility 32 HP:0000978
4 menorrhagia 32 HP:0000132
5 joint hemorrhage 32 HP:0005261
6 impaired epinephrine-induced platelet aggregation 32 HP:0008148

MGI Mouse Phenotypes related to Quebec Platelet Disorder:

46
# 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 F5 PLAU RECK SELP SERPINE1 SPARC
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 29 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. ( 21495923 )
2011
5
Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. ( 22102275 )
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
Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. ( 18600101 )
2008
11
Quebec platelet disorder: features, pathogenesis and treatment. ( 18277131 )
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
(show top 50) (show all 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLAU NC_000010.9: g.75329022_75406959dup duplication Pathogenic GRCh37 Chromosome 10, 75659016: 75736953
2 PLAU NC_000010.9: g.75329022_75406959dup duplication Pathogenic GRCh38 Chromosome 10, 73899258: 73977195
3 PLAU NC_000010.9: g.75329022_75406959dup duplication Pathogenic NCBI36 Chromosome 10, 75329022: 75406959
4 PLAU NM_002658.4(PLAU): c.172G> A (p.Gly58Arg) single nucleotide variant Likely benign rs55744193 GRCh37 Chromosome 10, 75672059: 75672059
5 PLAU NM_002658.4(PLAU): c.172G> A (p.Gly58Arg) single nucleotide variant Likely benign rs55744193 GRCh38 Chromosome 10, 73912301: 73912301
6 PLAU NM_002658.4(PLAU): c.-32+9C> G single nucleotide variant Likely benign rs538342269 GRCh37 Chromosome 10, 75670985: 75670985
7 PLAU NM_002658.4(PLAU): c.-32+9C> G single nucleotide variant Likely benign rs538342269 GRCh38 Chromosome 10, 73911227: 73911227
8 PLAU NM_002658.4(PLAU): c.-20A> G single nucleotide variant Likely benign rs201591610 GRCh37 Chromosome 10, 75671294: 75671294
9 PLAU NM_002658.4(PLAU): c.-20A> G single nucleotide variant Likely benign rs201591610 GRCh38 Chromosome 10, 73911536: 73911536
10 PLAU NM_002658.4(PLAU): c.17C> A (p.Ala6Glu) single nucleotide variant Uncertain significance rs371106595 GRCh37 Chromosome 10, 75671330: 75671330
11 PLAU NM_002658.4(PLAU): c.17C> A (p.Ala6Glu) single nucleotide variant Uncertain significance rs371106595 GRCh38 Chromosome 10, 73911572: 73911572
12 PLAU NM_002658.4(PLAU): c.163A> G (p.Lys55Glu) single nucleotide variant Uncertain significance rs147372618 GRCh37 Chromosome 10, 75672050: 75672050
13 PLAU NM_002658.4(PLAU): c.163A> G (p.Lys55Glu) single nucleotide variant Uncertain significance rs147372618 GRCh38 Chromosome 10, 73912292: 73912292
14 PLAU NM_002658.4(PLAU): c.308C> T (p.Thr103Met) single nucleotide variant Uncertain significance rs370278611 GRCh38 Chromosome 10, 73913038: 73913038
15 PLAU NM_002658.4(PLAU): c.308C> T (p.Thr103Met) single nucleotide variant Uncertain significance rs370278611 GRCh37 Chromosome 10, 75672796: 75672796
16 PLAU NM_002658.4(PLAU): c.368+6G> C single nucleotide variant Uncertain significance rs186447765 GRCh38 Chromosome 10, 73913104: 73913104
17 PLAU NM_002658.4(PLAU): c.368+6G> C single nucleotide variant Uncertain significance rs186447765 GRCh37 Chromosome 10, 75672862: 75672862
18 PLAU NM_002658.4(PLAU): c.581C> A (p.Ala194Glu) single nucleotide variant Uncertain significance rs145865648 GRCh38 Chromosome 10, 73913659: 73913659
19 PLAU NM_002658.4(PLAU): c.581C> A (p.Ala194Glu) single nucleotide variant Uncertain significance rs145865648 GRCh37 Chromosome 10, 75673417: 75673417
20 PLAU NM_002658.4(PLAU): c.878G> A (p.Arg293Gln) single nucleotide variant Likely benign rs546931331 GRCh38 Chromosome 10, 73914824: 73914824
21 PLAU NM_002658.4(PLAU): c.878G> A (p.Arg293Gln) single nucleotide variant Likely benign rs546931331 GRCh37 Chromosome 10, 75674582: 75674582
22 PLAU NM_002658.4(PLAU): c.1092C> T (p.Asp364=) single nucleotide variant Likely benign rs148333167 GRCh38 Chromosome 10, 73915372: 73915372
23 PLAU NM_002658.4(PLAU): c.1092C> T (p.Asp364=) single nucleotide variant Likely benign rs148333167 GRCh37 Chromosome 10, 75675130: 75675130
24 PLAU NM_002658.4(PLAU): c.*335G> A single nucleotide variant Likely benign rs185909762 GRCh37 Chromosome 10, 75676658: 75676658
25 PLAU NM_002658.4(PLAU): c.*335G> A single nucleotide variant Likely benign rs185909762 GRCh38 Chromosome 10, 73916900: 73916900
26 PLAU NM_002658.4(PLAU): c.*900A> G single nucleotide variant Uncertain significance rs886047213 GRCh37 Chromosome 10, 75677223: 75677223
27 PLAU NM_002658.4(PLAU): c.*900A> G single nucleotide variant Uncertain significance rs886047213 GRCh38 Chromosome 10, 73917465: 73917465
28 PLAU NM_002658.4(PLAU): c.43G> T (p.Val15Leu) single nucleotide variant Benign rs2227580 GRCh37 Chromosome 10, 75671356: 75671356
29 PLAU NM_002658.4(PLAU): c.43G> T (p.Val15Leu) single nucleotide variant Benign rs2227580 GRCh38 Chromosome 10, 73911598: 73911598
30 PLAU NM_002658.4(PLAU): c.162A> G (p.Pro54=) single nucleotide variant Likely benign rs142059320 GRCh37 Chromosome 10, 75672049: 75672049
31 PLAU NM_002658.4(PLAU): c.162A> G (p.Pro54=) single nucleotide variant Likely benign rs142059320 GRCh38 Chromosome 10, 73912291: 73912291
32 PLAU NM_002658.4(PLAU): c.236G> A (p.Arg79Gln) single nucleotide variant Likely benign rs201299522 GRCh38 Chromosome 10, 73912966: 73912966
33 PLAU NM_002658.4(PLAU): c.236G> A (p.Arg79Gln) single nucleotide variant Likely benign rs201299522 GRCh37 Chromosome 10, 75672724: 75672724
34 PLAU NM_002658.4(PLAU): c.581C> T (p.Ala194Val) single nucleotide variant Likely benign rs145865648 GRCh38 Chromosome 10, 73913659: 73913659
35 PLAU NM_002658.4(PLAU): c.581C> T (p.Ala194Val) single nucleotide variant Likely benign rs145865648 GRCh37 Chromosome 10, 75673417: 75673417
36 PLAU NM_002658.4(PLAU): c.602G> T (p.Arg201Leu) single nucleotide variant Likely benign rs549461157 GRCh38 Chromosome 10, 73913680: 73913680
37 PLAU NM_002658.4(PLAU): c.602G> T (p.Arg201Leu) single nucleotide variant Likely benign rs549461157 GRCh37 Chromosome 10, 75673438: 75673438
38 PLAU NM_002658.4(PLAU): c.706A> G (p.Ile236Val) single nucleotide variant Likely benign rs150389556 GRCh38 Chromosome 10, 73914005: 73914005
39 PLAU NM_002658.4(PLAU): c.706A> G (p.Ile236Val) single nucleotide variant Likely benign rs150389556 GRCh37 Chromosome 10, 75673763: 75673763
40 PLAU NM_002658.4(PLAU): c.1053C> T (p.Tyr351=) single nucleotide variant Likely benign rs558920700 GRCh38 Chromosome 10, 73915333: 73915333
41 PLAU NM_002658.4(PLAU): c.1053C> T (p.Tyr351=) single nucleotide variant Likely benign rs558920700 GRCh37 Chromosome 10, 75675091: 75675091
42 PLAU NM_002658.4(PLAU): c.1222G> A (p.Val408Ile) single nucleotide variant Likely benign rs200165551 GRCh38 Chromosome 10, 73916491: 73916491
43 PLAU NM_002658.4(PLAU): c.1222G> A (p.Val408Ile) single nucleotide variant Likely benign rs200165551 GRCh37 Chromosome 10, 75676249: 75676249
44 PLAU NM_002658.4(PLAU): c.*3G> A single nucleotide variant Uncertain significance rs886047208 GRCh38 Chromosome 10, 73916568: 73916568
45 PLAU NM_002658.4(PLAU): c.*3G> A single nucleotide variant Uncertain significance rs886047208 GRCh37 Chromosome 10, 75676326: 75676326
46 PLAU NM_002658.4(PLAU): c.*52T> A single nucleotide variant Likely benign rs560674195 GRCh38 Chromosome 10, 73916617: 73916617
47 PLAU NM_002658.4(PLAU): c.*52T> A single nucleotide variant Likely benign rs560674195 GRCh37 Chromosome 10, 75676375: 75676375
48 PLAU NM_002658.4(PLAU): c.*176G> T single nucleotide variant Uncertain significance rs886047209 GRCh37 Chromosome 10, 75676499: 75676499
49 PLAU NM_002658.4(PLAU): c.*176G> T single nucleotide variant Uncertain significance rs886047209 GRCh38 Chromosome 10, 73916741: 73916741
50 PLAU NM_002658.4(PLAU): c.*355C> T single nucleotide variant Likely benign rs140559980 GRCh37 Chromosome 10, 75676678: 75676678

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 extracellular region GO:0005576 9.61 CD63 F10 F5 MMRN1 PLAU RECK
3 platelet alpha granule membrane GO:0031092 9.32 SELP SPARC
4 platelet alpha granule GO:0031091 9.26 F5 SPARC
5 platelet dense granule membrane GO:0031088 9.16 CD63 SELP
6 platelet alpha granule lumen GO:0031093 8.92 F5 MMRN1 SERPINE1 SPARC
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 cell adhesion GO:0007155 9.71 CD63 MMRN1 SELP VCL
2 extracellular matrix organization GO:0030198 9.54 RECK SERPINE1 SPARC
3 pigmentation GO:0043473 9.43 CD63 SPARC
4 negative regulation of cell migration GO:0030336 9.43 RECK SERPINE1 VCL
5 hemostasis GO:0007599 9.33 F10 F5 PLAU
6 fibrinolysis GO:0042730 9.32 PLAU SERPINE1
7 blood coagulation GO:0007596 9.26 F10 F5 MMRN1 PLAU
8 platelet degranulation GO:0002576 9.17 CD63 F5 MMRN1 SELP SERPINE1 SPARC

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.92 F10 MMRN1 SELP SPARC

Sources for Quebec Platelet Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....