Quebec Platelet Disorder disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: QBC001 MIFTS: 43	Quebec Platelet Disorder Categories: Genetic diseases, Rare diseases, Blood diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Purpura and other haemorrhagic conditions

Qualitative platelet defects

Orphanet: ⁵⁹

Rare haematological diseases

External Ids:

OMIM ⁵⁷ 601709

Disease Ontology ¹² DOID:0111050

ICD10 ³³ D69.1

MeSH ⁴⁴ C536260 D006470

Orphanet ⁵⁹ ORPHA220436

MESH via Orphanet ⁴⁵ C536260

UMLS via Orphanet ⁷⁴ C1866423

ICD10 via Orphanet ³⁴ D69.1

MedGen ⁴² C1866423

SNOMED-CT via HPO ⁶⁹ 263681008 386692008 12441001 more

UMLS ⁷³ C1866423

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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...

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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:

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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 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

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Drugs & Therapeutics for Quebec Platelet Disorder

Search Clinical Trials , NIH Clinical Center for Quebec Platelet Disorder

Cochrane evidence based reviews: quebec platelet disorder

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Genetic Tests for Quebec Platelet Disorder

Genetic tests related to Quebec Platelet Disorder:

#	Genetic test	Affiliating Genes
1	Quebec Platelet Disorder ²⁹	PLAU

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Anatomical Context for Quebec Platelet Disorder

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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 )	Hayward C.P.M....Rivard G.E.	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 )	Hayward C.P....Wilson M.D.	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 )	Hayward C.P....Rivard G.E.	2012
4	Quebec platelet disorder. ( 21495923 )	Hayward C.P....Rivard G.E.	2011
5	Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. ( 22102275 )	Blavignac J....Hayward C.P.	2011
6	Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. ( 20007542 )	Paterson A.D....Hayward C.P.	2010
7	Quebec platelet disorder. ( 20688024 )	Abbasi A.H....Hussain S.A.	2010
8	Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. ( 18988861 )	Diamandis M....Hayward C.P.	2009
9	Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. ( 19029443 )	Veljkovic D.K....Hayward C.P.	2009
10	Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. ( 18600101 )	Diamandis M....Hayward C.P.	2008
11	Quebec platelet disorder: features, pathogenesis and treatment. ( 18277131 )	Diamandis M....Hayward C.P.	2008
12	Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. ( 16689763 )	Diamandis M....Hayward C.P.	2006
13	Bleeding risks associated with inheritance of the Quebec platelet disorder. ( 15026313 )	McKay H....Hayward C.P.	2004
14	Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder. ( 12888877 )	Sheth P.M....Hayward C.P.	2003
15	Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. ( 11435291 )	Kahr W.H....Hayward C.P.	2001
16	Fibrinogen degradation products in patients with the Quebec platelet disorder. ( 9163623 )	Hayward C.P....Rivard G.E.	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 )	Hayward C.P....Rivard G.E.	1997

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Genes for Quebec Platelet Disorder

Genes related to Quebec Platelet Disorder (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PLAU	Plasminogen Activator, Urokinase	Protein Coding	1410.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	19029443 12888877 18600101 (more) 15026313 18988861 11435291
2	ADAMTSL1	ADAMTS Like 1	Protein Coding	26	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8652809
3	C10orf55	Chromosome 10 Open Reading Frame 55	Protein Coding	19.41	GeneCards inferred via : Publications Variants (show sections)
4	F5	Coagulation Factor V	Protein Coding	19.38	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	8652809 8611679 11421293 (more) 9154319 19408196 9057642
5	F10	Coagulation Factor X	Protein Coding	17.92	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	19408196 11421293
6	MMRN1	Multimerin 1	Protein Coding	17.91	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8652809
7	SPARC	Secreted Protein Acidic And Cysteine Rich	Protein Coding	17.01	GeneCards inferred via : Publications (show sections)
8	SERPINE1	Serpin Family E Member 1	Protein Coding	17.01	GeneCards inferred via : Publications (show sections)
9	SELP	Selectin P	Protein Coding	17.01	GeneCards inferred via : Publications (show sections)
10	VCL	Vinculin	Protein Coding	17.01	GeneCards inferred via : Publications (show sections)
11	RECK	Reversion Inducing Cysteine Rich Protein With Kazal Motifs	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)
12	CD63	CD63 Molecule	Protein Coding	7.01	GeneCards inferred via : Publications (show sections)

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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

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Expression for Quebec Platelet Disorder

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

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Pathways for Quebec Platelet Disorder

Pathways related to Quebec Platelet Disorder according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.35	CD63 F10 F5 MMRN1 PLAU SELP
2	Adhesion ⁴	11.67	CD63 SERPINE1 VCL
3	Formation of Fibrin Clot (Clotting Cascade) ⁶⁶ Show member pathways Blood Clotting Cascade ¹ Blood Coagulation Signaling Pathways ⁶⁵ Common Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Prothrombin Activation Pathway ⁶⁴ Intrinsic Pathway of Fibrin Clot Formation ⁶⁶	11.66	F10 F5 PLAU SERPINE1
4	Senescence and Autophagy in Cancer ¹	11.52	PLAU SERPINE1 SPARC
5	Complement and coagulation cascades ¹ ³⁷	11.4	F10 F5 PLAU SERPINE1
6	Cell adhesion_ECM remodeling ²²	11.22	PLAU SERPINE1 SPARC
7	amb2 Integrin signaling ¹	11.11	PLAU SELP
8	Dissolution of Fibrin Clot ⁶⁶	10.48	PLAU SERPINE1

Sources

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

Sources for Quebec Platelet Disorder

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia