MCID: QBC001
MIFTS: 52

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 54 12 50 24 56 71 29 13 52 42 69
Factor V Quebec 12 50 24 56 71
Bdplt5 12 24 71
Qpd 50 24 71
Platelet-Type Bleeding Disorder 5 12 24
Bleeding Disorder Platelet-Type 5 71

Characteristics:

Orphanet epidemiological data:

56
quebec platelet disorder
Inheritance: Autosomal dominant;

OMIM:

54
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 54 601709
Disease Ontology 12 DOID:0111050
ICD10 33 D69.1
Orphanet 56 ORPHA220436
MESH via Orphanet 43 C536260
UMLS via Orphanet 70 C1866423
ICD10 via Orphanet 34 D69.1
MedGen 40 C1866423
UMLS 69 C1866423

Summaries for Quebec Platelet Disorder

OMIM : 54
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 elejalde disease, and has symptoms including thrombocytopenia, epistaxis and menorrhagia. 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). The drugs Esomeprazole and Histamine have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and lung, and related phenotypes are cardiovascular system and liver/biliary system

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 : 50 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

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.

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 all 47)
id Related Disease Score Top Affiliating Genes
1 factor v deficiency 31.8 F5 PLAU
2 elejalde disease 10.6 PLAU SERPINE1
3 hypopharynx cancer 10.5 SERPINE1 VCL
4 loiasis 10.5 PLAU SERPINE1
5 barbiturate abuse 10.5 SERPINE1 VCL
6 oppositional defiant disorder 10.5 SELP SERPINE1
7 hereditary amyloidosis 10.4 F10 SELP
8 psychosexual disorder 10.4 SELP SERPINE1
9 craniopharyngioma 10.3 CD63 SERPINE1
10 osteogenesis imperfecta, type vii 10.3 SELP SPARC
11 ischemic heart disease 10.2 SELP SERPINE1
12 thumb stiff brachydactyly mental retardation 10.2 ADAMTSL1 SELP SERPINE1
13 coronary sinus stenosis 10.1 F5 SERPINE1
14 amelogenesis imperfecta hypomaturation type 10.1 F5 SERPINE1
15 lockwood feingold syndrome 10.1 F5 SERPINE1
16 stoll alembik finck syndrome 10.1 F5 SERPINE1
17 optic nerve neoplasm 10.1 F10 SELP SERPINE1
18 collagenous colitis 10.1 F5 SERPINE1
19 cavernous lymphangioma 10.1 F5 SERPINE1
20 rheumatoid lung disease 10.1 F5 SERPINE1
21 basilar artery insufficiency 10.1 CD63 SELP SERPINE1
22 intestinal pseudo-obstruction 10.1 F5 SERPINE1
23 cryptosporidiosis 10.1 F5 SELP
24 mental retardation dysmorphism hypogonadism diabetes 10.1 F5 SERPINE1
25 neuroaxonal dystrophy 10.0 F5 SERPINE1
26 stickler sydrome, type i, nonsyndromic ocular 10.0 F5 SERPINE1
27 inherited blood coagulation disease 10.0 F5 SERPINE1
28 acquired pure red cell aplasia 9.9 F10 F5
29 thrombomodulin anomalies, familial 9.9 F5 SELP
30 cervix squamous papilloma 9.8 F5 SERPINE1
31 dysgammaglobulinemia 9.8 F5 SELP SERPINE1
32 irak4 deficiency 9.8 F10 F5
33 malignant type ab thymoma 9.8 F5 SELP SERPINE1
34 stroke, ischemic 9.7 F5 SELP SERPINE1
35 atrophic nonflaccid tympanic membrane 9.7 F5 SELP
36 glomerulosclerosis, focal segmental, 2 9.7 F10 F5
37 pericarditis 9.6 F5 SELP SERPINE1
38 thrombophilia due to activated protein c resistance 9.6 F10 F5 SERPINE1
39 pregnancy loss, recurrent 2 9.6 F10 F5 SERPINE1
40 meckel's diverticulum 9.6 F10 F5 SERPINE1
41 sacrococcygeal teratoma 9.6 F5 SERPINE1
42 mixed germ cell-sex cord neoplasm 9.6 F10 F5 SELP
43 spinocerebellar ataxia 27 9.6 F10 F5
44 bone remodeling disease 9.3 F10 F5 SELP SERPINE1
45 myocardial infarction 9.2 F10 F5 SELP SERPINE1
46 agenesis of the dorsal pancreas 9.2 F10 F5
47 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 6.3 ADAMTSL1 CD63 F10 F5 MMRN1 PLAU

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:

54

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

Clinical features from OMIM:

601709

Human phenotypes related to Quebec Platelet Disorder:

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

MGI Mouse Phenotypes related to Quebec Platelet Disorder:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 F5 PLAU RECK SELP SERPINE1 VCL
2 liver/biliary system MP:0005370 9.02 F5 PLAU RECK SELP SERPINE1

Drugs & Therapeutics for Quebec Platelet Disorder

Drugs for Quebec Platelet Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 210)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
2
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
3
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 3 73590-58-6 4594
4
Pantoprazole Approved Phase 4,Phase 3 102625-70-7 4679
5
Ranitidine Approved Phase 4 66357-59-3, 66357-35-5 3001055
6
Ticlopidine Approved Phase 4,Phase 3,Phase 2,Phase 1 55142-85-3 5472
7
Abciximab Approved Phase 4 143653-53-6
8
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
9
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 120202-66-6, 113665-84-2 60606
10 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Antacids Phase 4,Phase 3
12 Anticholesteremic Agents Phase 4,Phase 3
13 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
14 Anti-Ulcer Agents Phase 4,Phase 3
15 Atorvastatin Calcium Phase 4,Phase 3 134523-03-8
16
Bismuth Phase 4 7440-69-9 16682734 105143
17 Bismuth tripotassium dicitrate Phase 4
18 Calcium, Dietary Phase 4,Phase 2
19 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
20 Fibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Gastrointestinal Agents Phase 4,Phase 3
22 Histamine Antagonists Phase 4
23 Histamine H2 Antagonists Phase 4
24
Histamine Phosphate Phase 4 51-74-1 65513
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 3
26 Hypolipidemic Agents Phase 4,Phase 3
27 Lipid Regulating Agents Phase 4,Phase 3
28 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
30
Proton pump inhibitors Phase 4,Phase 3
31 Purinergic P2 Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1
32 Purinergic P2Y Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1
33 Ranitidine bismuth citrate Phase 4
34 Rosuvastatin Calcium Phase 4,Phase 3 147098-20-2
35 Antibodies Phase 4,Phase 3
36 Antibodies, Monoclonal Phase 4
37 Anticoagulants Phase 4,Phase 3,Phase 2
38 Immunoglobulin Fab Fragments Phase 4
39 Immunoglobulins Phase 4,Phase 3
40 Analgesics Phase 4,Phase 3
41 Analgesics, Non-Narcotic Phase 4,Phase 3
42 Anti-Inflammatory Agents Phase 4,Phase 3
43 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3
44 Antipyretics Phase 4,Phase 3
45 Cyclooxygenase Inhibitors Phase 4,Phase 3
46 Peripheral Nervous System Agents Phase 4,Phase 3
47 Citrate Nutraceutical Phase 4
48
Citric Acid Nutraceutical, Vet_approved Phase 4 77-92-9 311
49
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
50
Azacitidine Approved, Investigational Phase 3 320-67-2 9444

Interventional clinical trials:

(show top 50) (show all 86)

id Name Status NCT ID Phase Drugs
1 Evaluation of the Influence of Statins and Proton Pump Inhibitors on Clopidogrel Antiplatelet Effects Completed NCT00930670 Phase 4 Rosuvastatin-omeprazole;Rosuvastatin-pantoprazole;Rosuvastatin-esomeprazole;Rosuvastatin-ranitidine;Atorvastatin-omeprazole;Atorvastatin-pantoprazole;Atorvastatin-esomeprazole;Atorvastatin-ranitidine
2 H2 Haplotype and CYP3As Polymorphisms and the Antiplatelet Response to Clopidogrel Completed NCT00433784 Phase 4 Clopidogrel
3 EArly Discharge After Transradial Stenting of CoronarY Arteries: The EASY Study Completed NCT00169819 Phase 4 Abciximab
4 Aspirin Versus Aspirin + ClopidogRel Following Transcatheter Aortic Valve Implantation: the ARTE Trial Completed NCT01559298 Phase 4 Aspirin (80 mg/d) + clopidogrel (75 mg/d);Aspirin
5 Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia Completed NCT01352234 Phase 4 Acetylsalicylic Acid;Acetylsalicylic Acid
6 A Randomized Trial of Early Discharge After Trans-radial Stenting of Coronary Arteries in Acute MI Completed NCT00440778 Phase 4 Abciximab
7 A Randomized Trial of Early Discharge After Trans-radial Stenting of Coronary Arteries in Acute MI and Rescue-PCI Completed NCT00440895 Phase 4 Abciximab
8 Aspirin Versus Aspirin+Clopidogrel as Antithrombotic Treatment Following TAVI Active, not recruiting NCT02640794 Phase 4 Clopidogrel;Aspirin
9 Effect of Different Dosing Regimens of Clopidogrel Before Elective Percutaneous Coronary Intervention (PCI) on Platelet Function Completed NCT00693069 Phase 3 Clopidogrel;Clopidogrel;Clopidogrel;Clopidogrel
10 A Study of Eltrombopag or Placebo in Combination With Azacitidine in Subjects With International Prognostic Scoring System (IPSS) Intermediate-1, Intermediate-2 or High-risk Myelodysplastic Syndromes (MDS) Completed NCT02158936 Phase 3 Eltrombopag;Azacitidine;Placebo
11 Safety and Efficacy Study of Romiplostim to Treat Immune Thrombocytopenia (ITP) in Pediatric Patients Completed NCT01444417 Phase 3 Romiplostim;Placebo
12 RAISE: Randomized Placebo-Controlled Idiopathic Thrombocytopenic Purpura (ITP) Study With Eltrombopag Completed NCT00370331 Phase 3 eltrombopag;Placebo
13 A Study Evaluating the Safety and Efficacy of Long-term Dosing of Romiplostim in Thrombocytopenic Pediatric Subjects With Immune (Idiopathic) Thrombocytopenia Purpura Completed NCT01071954 Phase 3
14 EXTEND (Eltrombopag Extended Dosing Study) Completed NCT00351468 Phase 3 eltrombopag olamine (SB-497115-GR)
15 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
16 Phase III Trial With Caplacizumab in Patients With Acquired Thrombotic Thrombocytopenic Purpura Completed NCT02553317 Phase 3
17 Eltrombopag To Initiate And Maintain Interferon Antiviral Treatment To Subjects With Hepatitis C Related Liver Disease Completed NCT00516321 Phase 3 eltrombopag;placebo
18 Eltrombopag To Initiate And Maintain Interferon Antiviral Treatment To Benefit Subjects With Hepatitis C Liver Disease Completed NCT00529568 Phase 3 eltrombopag;placebo
19 A Comparison of Ticagrelor (AZD6140) and Clopidogrel in Patients With Acute Coronary Syndrome Completed NCT00391872 Phase 3 Ticagrelor;Clopidogrel
20 Secondary Prevention of Small Subcortical Strokes Trial Completed NCT00059306 Phase 3 aspirin;clopidogrel
21 Study to Determine Efficacy and Safety of Lenalidomide Plus Low-dose Dexamethasone Versus Melphalan, Prednisone, Thalidomide in Patients With Previously Untreated Multiple Myeloma Completed NCT00689936 Phase 3 Lenalidomide and low-dose dexamethasone;Lenalidomide plus low-dose dexamethasone given for 18 four-week cycles;Melphalan, Prednisone and Thalidomide
22 A Study Comparing Cardiovascular Effects of Ticagrelor and Clopidogrel in Patients With Peripheral Artery Disease Completed NCT01732822 Phase 3 Ticagrelor;Clopidogrel
23 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
24 Abatacept and Infliximab in Combination With Methotrexate in Subjects With Rheumatoid Arthritis Completed NCT00095147 Phase 3 Abatacept (ABA) + Methotrexate (MTX), double-blind (DB);Infliximab (INF) + MTX, DB;Placebo (PLA) + MTX, DB;PLA + MTX switched to ABA+ MTX, DB;ABA, open-label (OL)
25 Defibrotide for the Treatment of Severe Hepatic Veno-Occlusive Disease in Hematopoetic Stem Cell Transplant Patients Completed NCT00358501 Phase 3 Defibrotide
26 Tiotropium / Respimat One-Year Study Completed NCT00168831 Phase 3 Tiotropium Inhalation Solution
27 Combination Chemotherapy in Treating Children With Progressive Brain Tumors Completed NCT00002944 Phase 3 carboplatin;lomustine;procarbazine hydrochloride;thioguanine;vincristine sulfate
28 Efficacy and Safety of Eplivanserin Treatment for Sleep Maintenance Insomnia Followed by Optional Extension up to 1 Year Completed NCT00253903 Phase 3 eplivanserin (SR46349);placebo
29 Warfarin and Antiplatelet Therapy in Chronic Heart Failure Completed NCT00007683 Phase 3 Warfarin titrated to an INR of 2.5-3.0;Aspirin;Clopidogrel 75
30 Tiotropium / Respimat One-Year Study Completed NCT00168844 Phase 3 Tiotropium Inhalation Solution
31 A Trial of Eltrombopag or Intravenous Immune Globulin Before Surgery for Immune Thrombocytopenia Patients Recruiting NCT01621204 Phase 3 Eltrombopag;IVIG infusion
32 The Efficacy and Safety of Oral Azacitidine Plus Best Supportive Care Versus Placebo and Best Supportive Care in Subjects With Red Blood Cell (RBC) Transfusion-Dependent Anemia and Thrombocytopenia Due to International Prognostic Scoring System (IPSS) Low Recruiting NCT01566695 Phase 3 Oral Azacitidine;Placebo
33 Follow-up Study for Patients Who Completed Study ALX0681-C301 (Post-HERCULES) Recruiting NCT02878603 Phase 3
34 Platelet-Oriented Inhibition in New TIA and Minor Ischemic Stroke (POINT) Trial Recruiting NCT00991029 Phase 3 Clopidogrel;placebo
35 GLOBAL LEADERS: A Clinical Study Comparing Two Forms of Anti-platelet Therapy After Stent Implantation Active, not recruiting NCT01813435 Phase 3 Ticagrelor;Acetylsalicylic Acid;Clopidogrel
36 Single Arm, Open-label, Long-term Study of Romiplostim in Thrombocytopenic Pediatric Subjects With ITP. Active, not recruiting NCT02279173 Phase 3 Romiplostim
37 A Study of AMR101 to Evaluate Its Ability to Reduce Cardiovascular Events in High Risk Patients With Hypertriglyceridemia and on Statin. The Primary Objective is to Evaluate the Effect of 4 g/Day AMR101 for Preventing the Occurrence of a First Major Cardi Active, not recruiting NCT01492361 Phase 3 AMR101;Placebo
38 Rivaroxaban for the Prevention of Major Cardiovascular Events in Coronary or Peripheral Artery Disease Active, not recruiting NCT01776424 Phase 3 Rivaroxaban (Xarelto, BAY59-7939);Rivaroxaban (Xarelto, BAY59-7939);Aspirin;Aspirin placebo;Rivaroxaban placebo;Pantoprazole
39 A Pharmacodynamic Study of a Personalized Strategy for P2Y12 Inhibition Versus Ticagrelor in Reducing Ischemic and Bleeding Risk Active, not recruiting NCT02044146 Phase 2, Phase 3 Ticagrelor, Prasugrel, Clopidogrel
40 Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures Terminated NCT00678587 Phase 3 Eltrombopag;Placebo
41 Study of the Efficacy and Safety of Tezosentan in Patients With Pre-operative Pulmonary Hypertension, Due to Left Heart Disease, Undergoing Open Heart Surgery Terminated NCT00458276 Phase 3 tezosentan;placebo
42 A Study of Prasugrel in Pediatric Participants With Sickle Cell Disease (SCD) Terminated NCT01794000 Phase 3 Prasugrel;Placebo
43 Trial Comparing the Effects of Aripiprazole With Those of Standard of Care on Non-HDL Cholesterol in Patients With Schizophrenia or Bipolar I Disorder Who Have Metabolic Syndrome Terminated NCT00857818 Phase 3 Aripiprazole;Oanzapine, risperidone, or quetiapine
44 Clopidogrel and the Optimization of Gastrointestinal Events (COGENT-1) Terminated NCT00557921 Phase 3 CGT-2168 (clopidogrel 75 mg/omeprazole 20 mg) and aspirin;Plavix (clopidogrel 75 mg) and aspirin
45 Rituximab in Patients With Relapsed or Refractory TTP-HUS Unknown status NCT00531089 Phase 2 Rituximab
46 A Three-part Study of Eltrombopag in Thrombocytopenic Subjects With Myelodysplastic Syndromes or Acute Myeloid Leukemia Completed NCT01440374 Phase 2 eltrombopag;placebo
47 Safety Study Evaluating Twice-Daily Administration of Momelotinib in Primary Myelofibrosis or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis Completed NCT01423058 Phase 1, Phase 2 Momelotinib
48 Extension Study Evaluating the Long Term Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT01236638 Phase 2 Momelotinib
49 Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT00935987 Phase 1, Phase 2 CYT387
50 Dose/ Schedule Finding Trial of Romiplostim for Chemotherapy-Induced Thrombocytopenia (CIT) in Non-Small Cell Lung Cancer (NSCLC) Completed NCT00413283 Phase 2 Placebo;Gemcitabine;Carboplatin;Cisplatin

Search 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:

id Genetic test Affiliating Genes
1 Quebec Platelet Disorder 29 24 PLAU

Anatomical Context for Quebec Platelet Disorder

MalaCards organs/tissues related to Quebec Platelet Disorder:

39
Liver, Heart, Lung, Bone, Prostate, Bone Marrow, Myeloid

Publications for Quebec Platelet Disorder

Articles related to Quebec Platelet Disorder:

(show all 16)
id Title Authors Year
1
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
2
Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. ( 22234747 )
2012
3
Quebec platelet disorder. ( 21495923 )
2011
4
Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. ( 22102275 )
2011
5
Quebec platelet disorder. ( 20688024 )
2010
6
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. ( 20007542 )
2010
7
Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. ( 19029443 )
2009
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
Quebec platelet disorder: features, pathogenesis and treatment. ( 18277131 )
2008
10
Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. ( 18600101 )
2008
11
Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. ( 16689763 )
2006
12
Bleeding risks associated with inheritance of the Quebec platelet disorder. ( 15026313 )
2004
13
Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder. ( 12888877 )
2003
14
Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. ( 11435291 )
2001
15
Fibrinogen degradation products in patients with the Quebec platelet disorder. ( 9163623 )
1997
16
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
id 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
id 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:

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 CD63 F10 F5 PLAU RECK SELP
2 extracellular space GO:0005615 9.88 CD63 F5 PLAU SELP SERPINE1 SPARC
3 extracellular vesicle GO:1903561 9.43 F5 VCL
4 platelet alpha granule membrane GO:0031092 9.37 SELP SPARC
5 extracellular region GO:0005576 9.28 CD63 F10 F5 MMRN1 PLAU RECK
6 platelet alpha granule GO:0031091 9.26 F5 SPARC
7 platelet alpha granule lumen GO:0031093 9.26 F5 MMRN1 SERPINE1 SPARC
8 platelet dense granule membrane GO:0031088 9.16 CD63 SELP

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.58 RECK SERPINE1 SPARC
2 negative regulation of cell migration GO:0030336 9.5 RECK SERPINE1 VCL
3 fibrinolysis GO:0042730 9.37 PLAU SERPINE1
4 hemostasis GO:0007599 9.33 F10 F5 PLAU
5 regulation of receptor activity GO:0010469 9.26 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
8 pigmentation GO:0043473 9.13 SPARC

Sources for Quebec Platelet Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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