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MCID: BLD053
MIFTS: 51

Blood Platelet Disease

Categories: Blood diseases, Bone diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Blood Platelet Disease

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MalaCards integrated aliases for Blood Platelet Disease:

Name: Blood Platelet Disease 12 15 71
Platelet Disorder 12 74 54 6
Blood Platelet Disorders 74 43 71
Platelet Dysfunction 54 71
Thrombocytopathy 12 74
Qualitative Platelet Deficiency 71
Platelet Disorders 42

Classifications:

MalaCards categories:
Anatomical: Blood diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:2218
MeSH 43 D001791
SNOMED-CT 67 22716005
UMLS 71 C0005818 C0235604 C0679429 more
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Summaries for Blood Platelet Disease

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MedlinePlus : 42 Platelets, also known as thrombocytes, are blood cells. They form in your bone marrow, a sponge-like tissue in your bones. Platelets play a major role in blood clotting. Normally, when one of your blood vessels is injured, you start to bleed. Your platelets will clot (clump together) to plug the hole in the blood vessel and stop the bleeding. You can have different problems with your platelets: If your blood has a low number of platelets, it is called thrombocytopenia. This can put you at risk for mild to serious bleeding. The bleeding could be external or internal. There can be various causes. If the problem is mild, you may not need treatment. For more serious cases, you may need medicines or blood or platelet transfusions. If your blood has too many platelets, you may have a higher risk of blood clots. When the cause is unknown, this is called thrombocythemia. It is rare. You may not need treatment if there are no signs or symptoms. In other cases, people who have it may need treatment with medicines or procedures. If another disease or condition is causing the high platelet count, it is thrombocytosis. The treatment and outlook for thrombocytosis depends on what is causing it. Another possible problem is that your platelets do not work as they should. For example, in von Willebrand Disease, your platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. There are different types of in von Willebrand Disease; treatment depends on which type you have. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Blood Platelet Disease, also known as platelet disorder, is related to bernard-soulier syndrome and factor v deficiency, and has symptoms including angina pectoris, edema and chest pain. An important gene associated with Blood Platelet Disease is ANKRD26 (Ankyrin Repeat Domain 26), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and ECM-receptor interaction. The drugs Tranexamic Acid and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and heart, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 74 Platelets, also called thrombocytes (from Greek ???????, "clot" and ?????, "cell"), are a component of... more...

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Related Diseases for Blood Platelet Disease

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Diseases related to Blood Platelet Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 374)
# Related Disease Score Top Affiliating Genes
1 bernard-soulier syndrome 34.0 VWF THPO SELP MYH9 ITGA2B GP9
2 factor v deficiency 33.1 VWF F8 F3
3 pseudo-von willebrand disease 33.0 VWF GP9 GP1BB GP1BA F8
4 gray platelet syndrome 33.0 VWF SELP PF4 ITGA2B GP9 GP5
5 purpura 33.0 VWF THPO SERPINC1 SELP ITGA2B GP1BA
6 myh-9 related disease 32.8 MYH9 GP9 GP1BB GP1BA ANKRD26
7 thrombocytosis 32.6 VWF U2AF1 THPO SERPINC1 SELP PF4
8 thrombocytopenia 32.3 VWF U2AF1 THPO SERPINC1 SELP RUNX1
9 thrombasthenia 31.6 SELP ITGA2B GP9 GP1BA F3 CD36
10 von willebrand's disease 31.3 VWF SELP PF4 GP9 GP1BA F8
11 von willebrand disease, type 1 31.3 VWF GP1BA F8 F3
12 glanzmann thrombasthenia 31.3 VWF SELP PF4 ITGA2B GP9 GP1BA
13 thrombocytopenia due to platelet alloimmunization 31.2 THPO SELP PF4 ITGA2B GP9 ANKRD26
14 thrombocytopenic purpura, autoimmune 31.1 THPO SELP ITGA2B GP5 GP1BA F8
15 von willebrand disease, type 2 31.1 VWF GP1BA F8
16 marantic endocarditis 31.1 VWF SERPINC1 F3
17 angiodysplasia 31.1 VWF F8 F3
18 factor xi deficiency 31.1 VWF SERPINC1 F8 F3
19 factor viii deficiency 31.0 VWF F8 F3
20 hemophilia a 31.0 VWF F8 F3
21 hemophilia b 31.0 VWF SERPINC1 PF4 F8 F3
22 thrombophilia 31.0 VWF SERPINC1 SELP PF4 F8 F3
23 acquired von willebrand syndrome 31.0 VWF U2AF1 GP1BA F8 F3
24 myelofibrosis 30.9 U2AF1 THPO SELP RUNX1
25 myelodysplastic syndrome 30.9 U2AF1 THPO RUNX1 ITGA2B ANKRD26
26 compartment syndrome 30.8 SERPINC1 F8 F3
27 thrombosis 30.8 VWF SERPINC1 SELP PF4 ITGA2B GP1BA
28 megakaryocytic leukemia 30.7 VWF U2AF1 THPO SELP RUNX1 PF4
29 thrombotic thrombocytopenic purpura 30.7 VWF SERPINC1 SELP F3
30 disseminated intravascular coagulation 30.7 VWF SERPINC1 F3
31 hemorrhagic disease 30.7 VWF SERPINC1 PF4 GP1BA F8 F3
32 essential thrombocythemia 30.7 VWF U2AF1 THPO SERPINC1 SELP PTGS1
33 autosomal dominant macrothrombocytopenia 30.7 MYH9 ITGA2B GP1BB GP1BA
34 factor xiii deficiency 30.6 VWF SERPINC1 F8 F3
35 thrombophilia due to thrombin defect 30.6 SERPINC1 PF4 F8 F3
36 pulmonary embolism 30.6 VWF SERPINC1 PF4 F8 F3
37 cerebrovascular disease 30.6 VWF SELP ITGA2B GP1BA F8
38 fetal and neonatal alloimmune thrombocytopenia 30.6 ITGA2B GP1BB GP1BA
39 heparin-induced thrombocytopenia 30.6 SERPINC1 PF4 F3
40 platelet aggregation, spontaneous 30.5 VWF SERPINC1 SELP PF4
41 stroke, ischemic 30.5 VWF SERPINC1 SELP PF4 GP1BA F3
42 peripheral vascular disease 30.5 VWF SERPINC1 SELP PF4 F3
43 myeloproliferative neoplasm 30.5 VWF U2AF1 THPO SELP RUNX1 PF4
44 polycythemia vera 30.5 VWF THPO SELP PF4
45 heart disease 30.4 VWF SERPINC1 SELP PTGS1 PF4 F8
46 portal hypertension 30.4 VWF THPO F3
47 malaria 30.4 VWF SERPINC1 SELP PTGS1 PF4 F3
48 aplastic anemia 30.4 VWF U2AF1 THPO SERPINC1 ITGA2B
49 pre-eclampsia 30.4 VWF SERPINC1 SELP F8 F3
50 myocardial infarction 30.3 VWF SERPINC1 SELP PTGS1 PF4 MMRN1

Graphical network of the top 20 diseases related to Blood Platelet Disease:



Diseases related to Blood Platelet Disease
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Symptoms & Phenotypes for Blood Platelet Disease

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UMLS symptoms related to Blood Platelet Disease:


angina pectoris, edema, chest pain

MGI Mouse Phenotypes related to Blood Platelet Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.16 CD36 F2R F3 F8 GP1BA GP1BB
2 homeostasis/metabolism MP:0005376 10.09 ANKRD26 CD36 F2R F3 F8 GP1BA
3 cardiovascular system MP:0005385 10.06 ANKRD26 CD36 F2R F3 ITGA2B MYH9
4 immune system MP:0005387 9.77 CD36 F2R F3 F8 GP1BB ITGA2B
5 renal/urinary system MP:0005367 9.17 ANKRD26 CD36 F2R MYH9 PTGS1 SELP
Sources

Drugs & Therapeutics for Blood Platelet Disease

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Drugs for Blood Platelet Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 151)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2
Sodium citrate Approved, Investigational Phase 4 68-04-2
3
Acetaminophen Approved Phase 4 103-90-2 1983
4
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
5
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
6
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
7 Liver Extracts Phase 4
8 Antifibrinolytic Agents Phase 4
9 Factor VIII Phase 4
10 Calcium, Dietary Phase 4
11 Citrate Phase 4
12 Analgesics, Opioid Phase 4
13 Dialysis Solutions Phase 4
14 Chelating Agents Phase 4
15 Pharmaceutical Solutions Phase 4
16 Ketorolac Tromethamine Phase 4
17 Arginine Vasopressin Phase 4
18 Natriuretic Agents Phase 4
19 Hemostatics Phase 4
20 Deamino Arginine Vasopressin Phase 4
21 Vasopressins Phase 4
22 Coagulants Phase 4
23
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
24
Thrombin Approved, Investigational Phase 3
25
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
26
Salicylic acid Approved, Investigational, Vet_approved Phase 2, Phase 3 69-72-7 338
27
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
28
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
29
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
30 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
31
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
32
Hydroxyurea Approved Phase 3 127-07-1 3657
33
Melphalan Approved Phase 3 148-82-3 4053 460612
34
Danazol Approved Phase 3 17230-88-5 28417
35
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
36
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
37
Deslorelin Investigational, Vet_approved Phase 2, Phase 3 57773-65-6
38 Immunosuppressive Agents Phase 3
39 Anti-Infective Agents Phase 2, Phase 3
40 Protective Agents Phase 2, Phase 3
41 Hormones Phase 2, Phase 3
42 Protamines Phase 3
43 Hormone Antagonists Phase 2, Phase 3
44 Antifungal Agents Phase 2, Phase 3
45 Gastrointestinal Agents Phase 2, Phase 3
46 Dermatologic Agents Phase 2, Phase 3
47 Methylprednisolone Acetate Phase 2, Phase 3
48 Antiemetics Phase 2, Phase 3
49 Salicylates Phase 2, Phase 3
50 Keratolytic Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 116)
# Name Status NCT ID Phase Drugs
1 Effect of Desmopressin on Platelet Dysfunction Associated With Mild Hypothermia in Healthy Volunteers Unknown status NCT00902057 Phase 4 desmopressin;desmopressin;desmopressin;placebo
2 Platelet Function With New Pediatric Oxygenator and Heparin and Non Heparin Coating in Pediatric Cardiac Surgery Unknown status NCT01648712 Phase 4
3 Placebo-Controlled, Randomized, Double-Blind Trial of Prophylactic Desmopressin in Heart Valve Surgery Unknown status NCT03343418 Phase 4 Desmopressin;Placebo
4 Assessment of Coagulation Abnormalities in Acute on Chronic Liver Failure Patients Using Thromboelastography Unknown status NCT02757170 Phase 4
5 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex (Humate-P®) Using Individualized Dosing in Pediatric and Adult Surgical Subjects With Von Willebrand's Disease. Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
6 A UK Open-label, Multicentre, Exploratory Phase II Study of INC424 for Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4 INC424
7 Double Blinded Randomized Placebo Controlled Study in Evaluating the Effectiveness of IV Acetaminophen for Acute Post Operative Pain in C-Section Patients Completed NCT02069184 Phase 4 IV Acetaminophen
8 Citrate-based Regional Anticoagulation Versus Heparin for Continuous Renal Replacement Therapy in Critically Ill Patients With Acute Renal Failure: a Randomized Controlled Trial Completed NCT01269112 Phase 4
9 The Assessment of the Minimal Effective and Tolerated Dose of Tranexamic Acid in Women With Menorrhagia Who Have Bleeding Disorders Completed NCT00904709 Phase 4 tranexamic acid
10 A Randomized, Double-blinded, Placebo-controlled Study of Ketorolac Use in Pediatric Patients Undergoing Tonsillectomy Recruiting NCT03453541 Phase 4 Ketorolac Tromethamine;0.9% Normal Saline
11 Does An Abnormal PFA 100 Predict Bleeding After Renal Biopsy? Terminated NCT00334204 Phase 4
12 Desmopressin as Treatment for Postoperative Bleeding After Cardiac Surgery Terminated NCT00885924 Phase 4 Desmopressin;Placebo
13 Association of FC Gamma RIIIA Polymorphism and Thrombopoietin (THPO) Expression With Response to TPO Agonists in Refractory ITP and the Impact of Therapy on B and T Cells Subsets in the Patients With Mutated Genotypes Unknown status NCT02877212 Phase 3 Eltrombopag
14 A Two Part, Double-blind, Randomized, Placebo-controlled and Open-label Study to Investigate the Efficacy, Safety and Tolerability of Eltrombopag, a Thrombopoietin Receptor Agonist, in Pediatric Patients With Previously Treated Chronic Immune (Idiopathic) Thrombocytopenic Purpura (ITP). PETIT2: Eltrombopag in PEdiatric Patients With Thrombocytopenia From ITP Completed NCT01520909 Phase 3 Eltrombopag;Placebo
15 The Value of Addition of Prednisolone to Acetylsalicylic Acid Prior to Embryo Transfer in Patients With First ICSI Cycles: A Randomized Controlled Trial Completed NCT03503227 Phase 2, Phase 3 prednisolone;Acetyl Salicylic acid
16 The ZEroPLASmaTrial (ZEPLAST): a Randomized, Controlled Trial on Transfusion Avoidance in High Transfusion-risk Cardiac Surgery Patients Completed NCT01471730 Phase 3 Fibrinogen;Saline solution;Prothrombin complex
17 A Randomized Controlled Phase 3 Study of Oral Pacritinib Versus Best Available Therapy in Patients With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
18 A Randomized Controlled Phase 3 Study of Oral Pacritinib Versus Best Available Therapy in Patients With Thrombocytopenia and Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
19 Dose-Ranging Pharmacodynamic Assessment of Platelet Aggregation Inhibition With Clopidogrel in Children of Blalock-Taussig Shunt Age Categories (Neonates and Infants/Toddlers) Completed NCT00115375 Phase 2 Clopidogrel (SR25990)
20 An Open-label Safety Study of S-888711 in Adult Subjects With Relapsed Persistent or Chronic Immune Thrombocytopenia With or Without Prior Splenectomy Completed NCT01129024 Phase 2 S-888711 0.5 mg tablet
21 An Exploratory Phase II Dose Escalation Study of Eltrombopag in MYH9 Related Disease Completed NCT01133860 Phase 2 eltrombopag
22 Eltrombopag for Inherited Thrombocytopenias Completed NCT02422394 Phase 2 Eltrombopag
23 A Phase Ib/II, Open-label, Multi-center, Dose-finding Study to Assess the Safety and Efficacy of the Oral Combination of LDE225 and INC424 (Ruxolitinib) in Patients With Myelofibrosis Completed NCT01787552 Phase 1, Phase 2 LDE225;INC424
24 Safety and Efficacy of Eltrombopag at Escalated Doses up to 150mg in Patients With Persistent and Chronic Immune Thrombocytopenia (ITP) Not Responsive to 75 mg Completed NCT01880047 Phase 2 Eltrombopag;Placebo
25 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Analgesic Efficacy, Safety and Tolerability of ALGRX 4975 in Subjects After Open Cholecystectomy Completed NCT00133133 Phase 2 ALGRX 4975
26 Prospective, Randomized, Single Center, Open Label Study Designed to Evaluate the Effect on Platelet Reactivity in Response to High Doses of Atorvastatin or Rosuvastatin Administered Before Percutaneous Coronary Intervention (PCI) Completed NCT01526460 Phase 2 Atorvastatin;Rosuvastatin;Placebo
27 Fibrinogen vs Placebo for Improvement of Clot Strength Completed NCT00493272 Phase 1, Phase 2 Fibrinogen
28 A Phase 2 Pilot Study of the Safety, Pharmacokinetics, and Pharmacodynamics of ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779;ARC1779
29 Trimetazidine as an Adjunct to Enhance Clopidogrel Response: The TRACER Study. Completed NCT03603249 Phase 2 Trimetazidine
30 Reversal of Dual Antiplatelet Therapy With Cold Stored Platelets Recruiting NCT03787927 Phase 1, Phase 2 Autologous Platelet Transfusion (room-temperature-stored);Autologous Platelet Transfusion (cold-stored 5 days);Autologous Platelet Transfusion (cold-stored 10 days);Autologous Platelet Transfusion (cold-stored 15 days);Aspirin;Clopidogrel
31 Desmopressin for Reversal of Antiplatelet Drugs in Stroke Due to Haemorrhage (DASH) Recruiting NCT03696121 Phase 2 Desmopressin Injection;Normal saline
32 Intrauterine Infusion of Autologous Platelet-Rich Plasma (PRP) in Women With Thin Endometrium Undergoing Embryo-transfer. Recruiting NCT03067623 Phase 2 PRP
33 An Open-Label, Randomized, Phase 2 Dose-Finding Study of Pacritinib in Patients With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Previously Treated With Ruxolitinib Active, not recruiting NCT03165734 Phase 2 Pacritinib
34 A Phase 2, Open-label, Randomized Study to Evaluate the Safety and Efficacy of Momelotinib in Subjects With Polycythemia Vera or Essential Thrombocythemia Terminated NCT01998828 Phase 2 Momelotinib
35 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Investigate the Efficacy and Safety of S-888711 Tablets Administered Once-daily for 42 Days to Adult Subjects With Relapsed Persistent or Chronic Immune Thrombocytopenia With or Without Prior Splenectomy Terminated NCT01054443 Phase 2 placebo to S-888711;S-888711;S-888711;S-888711
36 Post-operative Administration of Platelet Rich Plasma Sequestered Prior to Cardiopulmonary Bypass Reduces the Coagulopathy Associated With Complex Cardiac Surgery Terminated NCT00359398 Phase 2
37 The Impact of Various Storage Techniques on Platelet Function Withdrawn NCT03338660 Phase 2
38 An Observational Study of the Immunopathogenesis of and Response to Step-Up Inflammatory Bowel Disease Therapy for Hermansky-Pudlak Syndrome-Associated Colitis Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
39 Phase I Study of Cytolytic Viral Activation Therapy (CVAT) for Recurrent/Metastatic Nasopharyngeal Carcinoma Unknown status NCT02761291 Phase 1 Gemcitabine;Valproic acid;Valganciclovir
40 Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers Completed NCT02506023 Phase 1 Desmopressin
41 Effect of Desmopressin on Platelet Function in CKD Patients on Antiplatelet Agent Who Need Emergent Temporary Catheter Insertion for Hemodialysis Completed NCT01841515 Phase 1 Desmopressin administration
42 Impact of Citalopharm and Fluvoxamine on Platelet Response to Clopidogrel, a Randomized, Double-blind, Crossover Trial Completed NCT01396720 Phase 1 fluvoxamine;citalopharm
43 Safety and Efficacy of Octreotide LAR Depot in Left Ventricular Assist Device (LVAD) Associate Gastrointestinal (GI) Completed NCT01707225 Phase 1 Octreotide LAR Depot
44 A Phase 1 Safety, Tolerability, and Pharmacokinetics & Pharmacodynamics Study of Multiple- Dose BIVV009 in Patients With Chronic Immune Thrombocytopenia (ITP) Recruiting NCT03275454 Phase 1 BIVV009 6.5 grams;BIVV009 7.5 grams
45 A Phase I/II Open-label Study of Eltrombopag for the Prevention of Chemotherapy Induced Thrombocytopenia (CIT) in Subjects With Advanced Soft Tissue and Bone Sarcomas Receiving Gemcitabine and Docetaxel Chemotherapy Terminated NCT01491594 Phase 1 Eltrombopag
46 Phase 1 Study to Assess the Safety of 500mg of Aspirin Added to IV TPA at Standard Doses to Prevent Re-occlusion of Cerebral Vessels After Successful Reperfusion. Withdrawn NCT00417898 Phase 1 Aspirin
47 A 1.5 Years Prospective Study Designed to Delineate the Cause of the Thrombocytopathy in Gaucher Disease Patients Unknown status NCT01344096
48 Cohort Study Examining the Effects of Short Daily Hemodialysis As Compared to Conventional Hemodialysis in Outpatients Treated at St Joseph's Healthcare, Hamilton Unknown status NCT00182156
49 Correction of Platelet Dysfunction Following Traumatic Brain Injury in Geriatric Patients Unknown status NCT03182946
50 Comparison of the Effects of Gelatine (Gelofusine ® B. Braun) Versus Crystalloid Solution (Ringerfundin ® B. Braun) for Volume Therapy on Coagulation, Thrombocyte Function and Thrombelastometry (ROTEM ®), in Elective Hip Replacement Surgery Unknown status NCT02461329 Gelofusine® B. Braun;Ringerfundin ® B. Braun

Search NIH Clinical Center for Blood Platelet Disease

Cochrane evidence based reviews: blood platelet disorders

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Genetic Tests for Blood Platelet Disease

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Anatomical Context for Blood Platelet Disease

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MalaCards organs/tissues related to Blood Platelet Disease:

40
Bone, Myeloid, Heart, Bone Marrow, Lung, Testes, Liver
Sources

Publications for Blood Platelet Disease

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Articles related to Blood Platelet Disease:

(show top 50) (show all 414)
# Title Authors PMID Year
1
CAL2 monoclonal antibody is a rapid and sensitive assay for the detection of calreticulin mutations in essential thrombocythemia patients. 42
31250082 2019
2
A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China. 42
31415434 2019
3
Update on diagnostic testing for platelet function disorders: What is practical and useful? 42
31069975 2019
4
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. 54 61
19946261 2010
5
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 54 61
19357396 2009
6
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 54 61
18723428 2008
7
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. 54 61
18478040 2008
8
Familial myelodysplasia and acute myeloid leukaemia--a review. 54 61
18173751 2008
9
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies. 54 61
18166807 2008
10
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 54 61
17290219 2007
11
Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report. 54 61
16651876 2006
12
AML1 deletion in adult mice causes splenomegaly and lymphomas. 54 61
16247465 2006
13
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. 54 61
16044442 2005
14
Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. 54 61
15741216 2005
15
Structure and function of snake venom toxins interacting with human von Willebrand factor. 54 61
15922776 2005
16
Targeting platelet GPIbalpha transgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbbeta and GPIX. 54 61
15550031 2004
17
Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia. 54 61
15339695 2004
18
Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia. 54 61
15156185 2004
19
AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis. 54 61
14966519 2004
20
Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2. 54 61
14594802 2004
21
AML1/RUNX1 mutations are infrequent, but related to AML-M0, acquired trisomy 21, and leukemic transformation in pediatric hematologic malignancies. 54 61
12874780 2003
22
The role of a Runt domain transcription factor AML1/RUNX1 in leukemogenesis and its clinical implications. 54 61
12604126 2003
23
Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. 54 61
12393679 2003
24
Core binding factor genes and human leukemia. 54 61
12495904 2002
25
Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder. 54 61
11754414 2001
26
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. 54 61
11675361 2001
27
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. 54 61
9116284 1997
28
PMA induces platelet activation of specific antigens (CD62/CD63) in GpIIb-IIIa deficient platelets from Glanzmann's thrombasthenia. 54 61
16793673 1997
29
An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect. 54 61
8652809 1996
30
Down syndrome and leukemia, an update. 54 61
8545449 1995
31
Human platelet glycoprotein V: a surface leucine-rich glycoprotein related to adhesion. 54 61
2372284 1990
32
Comparison of the structural dynamic and mitochondrial electron-transfer properties of the proapoptotic human cytochrome c variants, G41S, Y48H and A51V. 61
31760234 2020
33
The Clinical, Molecular, and Mechanistic Basis of RUNX1 Mutations Identified in Hematological Malignancies. 61
31964134 2020
34
Genomic analysis of a familial myelodysplasia/acute myeloid leukemia and inherited RUNX1 mutations without a pre-existing platelet disorder. 61
31385734 2020
35
The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy - A case series and review of the literature. 61
31989091 2020
36
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. 61
31562665 2020
37
GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant. 61
31698193 2019
38
Successful Use of Hematopoietic Stem Cell Transplantation for 2 Pediatric Cases of Glanzmann Thrombasthenia and Review of the Literature. 61
31693514 2019
39
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. 61
31648317 2019
40
Inherited disorders of the fibrinolytic pathway. 61
31427261 2019
41
A Case of Chronic Thrombocytopenia in a 17-Year-Old Female. 61
31228350 2019
42
Longitudinal sequencing of RUNX1 familial platelet disorder: new insights into genetic mechanisms of transformation to myeloid malignancies. 61
31124578 2019
43
Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy. 61
30600763 2019
44
Whole Exome Sequencing of an X-linked Thrombocytopenia Patient with Normal Sized Platelets. 61
31379999 2019
45
RUNX1-targeted therapy for AML expressing somatic or germline mutation in RUNX1. 61
31023702 2019
46
Mechanisms of thrombocytopenia in platelet-type von Willebrand disease. 61
30655369 2019
47
Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs. 61
31010659 2019
48
Downregulation of TREM-like transcript-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia. 61
30545930 2019
49
Sex-divided reference intervals for mean platelet volume, platelet large cell ratio and plateletcrit using the Sysmex XN-10 automated haematology analyzer in a UK population. 61
31079661 2019
50
Weak correlation of bleeding scores to platelet electron microscopy: A retrospective chart review of pediatric patients with delta-storage pool disorder. 61
30345617 2019
Sources

Variations for Blood Platelet Disease

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ClinVar genetic disease variations for Blood Platelet Disease:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD36 NM_001001547.3(CD36):c.268C>T (p.Pro90Ser)SNV Pathogenic 13535 rs75326924 7:80286003-80286003 7:80656687-80656687
2 ANKRD26 NM_014915.2(ANKRD26):c.-126T>CSNV Pathogenic/Likely pathogenic 626941 10:27389381-27389381 10:27100452-27100452

Copy number variations for Blood Platelet Disease from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 45936 10 75328946 75329067 Duplication PLAU Platelet disorder
Sources

Expression for Blood Platelet Disease

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Search GEO for disease gene expression data for Blood Platelet Disease.
Sources

Pathways for Blood Platelet Disease

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Pathways related to Blood Platelet Disease according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.11 VWF THPO SERPINC1 SELP PF4 MMRN1
2
ECM-receptor interaction 36
Show member pathways
 12.19 VWF ITGA2B GP9 GP5 GP1BB GP1BA
3
Complement and coagulation cascades 1 36
12.05 VWF SERPINC1 F8 F3 F2R
4
Hematopoietic cell lineage 36
11.97 THPO ITGA2B GP9 GP5 GP1BB GP1BA
5
Platelet activation 36
11.95 VWF PTGS1 ITGA2B GP9 GP5 GP1BB
6
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.94 THPO ITGA2B GP5 GP1BA CD36
7
Integrin alphaIIb beta3 signaling 65
Show member pathways
 11.94 VWF THPO ITGA2B GP9 GP5 GP1BB
8
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 11.52 VWF SERPINC1 PF4 GP9 GP5 GP1BB
9
Hematopoietic Stem Cell Differentiation 1
11.37 RUNX1 ITGA2B GP9
10
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.27 VWF PTGS1 ITGA2B GP9 GP5 GP1BB
11
Platelet Adhesion to exposed collagen 65
10.88 VWF GP9 GP5 GP1BB GP1BA
12
GP1b-IX-V activation signalling 65
10.72 VWF GP9 GP5 GP1BB GP1BA
Sources

GO Terms for Blood Platelet Disease

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Cellular components related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.15 SERPINC1 SELP MYH9 ITGA2B GP9 GP5
2 integral component of plasma membrane GO:0005887 9.87 SELP GP9 GP5 GP1BB GP1BA F2R
3 extracellular space GO:0005615 9.86 THPO SERPINC1 SELP PF4 GP1BA F8
4 collagen-containing extracellular matrix GO:0062023 9.55 VWF SERPINC1 PF4 MMRN1 F3
5 platelet alpha granule membrane GO:0031092 9.13 SELP ITGA2B CD36
6 platelet alpha granule lumen GO:0031093 8.92 VWF PF4 MMRN1 F8

Biological processes related to Blood Platelet Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.07 VWF SELP MYH9 MMRN1 ITGA2B GP9
2 platelet degranulation GO:0002576 9.87 VWF SELP PF4 MMRN1 ITGA2B F8
3 platelet activation GO:0030168 9.86 VWF PF4 GP9 GP5 GP1BB GP1BA
4 regulation of megakaryocyte differentiation GO:0045652 9.73 RUNX1 PF4 ITGA2B GP1BA
5 positive regulation of MAPK cascade GO:0043410 9.71 THPO F2R CD36
6 platelet aggregation GO:0070527 9.63 MYH9 ITGA2B GP1BA
7 blood coagulation, intrinsic pathway GO:0007597 9.63 VWF GP9 GP5 GP1BB GP1BA F8
8 hemostasis GO:0007599 9.61 VWF SERPINC1 GP9 GP5 GP1BB GP1BA
9 regulation of blood coagulation GO:0030193 9.58 SERPINC1 GP1BA F2R
10 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.52 PF4 CD36
11 positive regulation of blood coagulation GO:0030194 9.51 F2R CD36
12 positive regulation of leukocyte migration GO:0002687 9.49 SELP ITGA2B
13 thrombin-activated receptor signaling pathway GO:0070493 9.48 GP1BA F2R
14 blood coagulation GO:0007596 9.36 VWF SERPINC1 MMRN1 GP9 GP5 GP1BB

Molecular functions related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 VWF U2AF1 SERPINC1 SELP RUNX1 PF4
2 protease binding GO:0002020 9.33 VWF SERPINC1 F3
3 thrombin-activated receptor activity GO:0015057 8.62 GP1BA F2R
Sources

Sources for Blood Platelet Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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