QPD
MCID: QBC001
MIFTS: 41

Quebec Platelet Disorder (QPD)

Categories: Blood diseases, Genetic diseases, Rare 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 15 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
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 blood platelet 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 Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include heart, and related phenotypes are thrombocytopenia and epistaxis

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.

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.

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.

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 all 33)
# Related Disease Score Top Affiliating Genes
1 factor v deficiency 11.5
2 blood platelet disease 10.5
3 buerger disease 10.0 PLAU SERPINE1
4 paranasal sinus disease 9.9 PLAU SERPINE1
5 inferior vena cava interruption 9.9 F5 SERPINE1
6 amaurosis fugax 9.9 F5 SERPINE1
7 sticky platelet syndrome 9.9 F5 SERPINE1
8 cryptogenic cirrhosis 9.9 F5 SERPINE1
9 ischemic colitis 9.9 F5 SERPINE1
10 catastrophic antiphospholipid syndrome 9.9 F5 SERPINE1
11 thrombophlebitis 9.9 F5 SERPINE1
12 meningococcemia 9.9 F5 SERPINE1
13 factor xiii deficiency 9.9 F5 SERPINE1
14 post-thrombotic syndrome 9.9 F5 SERPINE1
15 legg-calve-perthes disease 9.9 F5 SERPINE1
16 retinal artery occlusion 9.9 F5 SERPINE1
17 portal vein thrombosis 9.9 F5 SERPINE1
18 thrombosis 9.9 F5 SERPINE1
19 thrombocytopenia 9.9
20 vein disease 9.9 F5 SERPINE1
21 intracranial hypertension 9.9 F5 SERPINE1
22 retinal vein occlusion 9.9 F5 SERPINE1
23 thrombophilia due to activated protein c resistance 9.9 F5 SERPINE1
24 thrombophilia 9.9 F5 SERPINE1
25 disseminated intravascular coagulation 9.9 F5 SERPINE1
26 thrombophilia due to thrombin defect 9.9 F5 SERPINE1
27 hirschsprung disease 1 9.9 C10orf55 PLAU
28 pulmonary embolism 9.9 F5 SERPINE1
29 hemorrhagic disease 9.8 F5 SERPINE1
30 hellp syndrome 9.8 F5 SERPINE1
31 coronary artery anomaly 9.8 F5 SERPINE1
32 fibrosarcoma 9.8 PLAU SERPINE1
33 cerebrovascular disease 9.8 F5 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 integument MP:0010771 8.92 F5 PLAU SERPINE1 SPARC

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

MalaCards organs/tissues related to Quebec Platelet Disorder:

41
Heart

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_000010.11: g.73899258_73977195dup duplication Pathogenic GRCh37 Chromosome 10, 75659016: 75736953
2 PLAU NC_000010.11: g.73899258_73977195dup duplication Pathogenic GRCh38 Chromosome 10, 73899258: 73977195
3 PLAU NC_000010.11: g.73899258_73977195dup 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 9.56 F5 PLAU SERPINE1 SPARC
2 extracellular region GO:0005576 9.55 ADAMTSL1 F5 PLAU SERPINE1 SPARC
3 platelet alpha granule GO:0031091 8.96 F5 SPARC
4 platelet alpha granule lumen GO:0031093 8.8 F5 SERPINE1 SPARC

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

# Name GO ID Score Top Affiliating Genes
1 hemostasis GO:0007599 9.16 F5 PLAU
2 fibrinolysis GO:0042730 8.96 PLAU SERPINE1
3 platelet degranulation GO:0002576 8.8 F5 SERPINE1 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
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