Blood Platelet Disease

Categories: Blood diseases, Bone diseases, Immune diseases

Aliases & Classifications for Blood Platelet Disease

MalaCards integrated aliases for Blood Platelet Disease:

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


External Ids:

Disease Ontology 12 DOID:2218
MeSH 43 D001791
NCIt 49 C131634
SNOMED-CT 67 22716005
UMLS 71 C0005818 C0235604 C0679429 more

Summaries for Blood Platelet Disease

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 blood platelet disorders, is related to bernard-soulier syndrome and pseudo-von willebrand disease, and has symptoms including edema, chest pain and angina pectoris. An important gene associated with Blood Platelet Disease is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and ECM-receptor interaction. The drugs Tranexamic Acid and Heparin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are Decreased viability and Decreased viability

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

Related Diseases for Blood Platelet Disease

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

(show top 50) (show all 388)
# Related Disease Score Top Affiliating Genes
1 bernard-soulier syndrome 33.5 VWF THPO SELP MYH9 ITGA2B GP9
2 pseudo-von willebrand disease 32.9 VWF GP9 GP1BB GP1BA
3 factor v deficiency 32.9 VWF F8 F3 F10 COX5A
4 purpura 32.8 VWF THPO SERPINC1 ITGA2B GP1BA F3
5 myh-9 related disease 32.6 MYH9 GP9 GP1BB GP1BA
6 gray platelet syndrome 32.6 VWF THPO SELP PF4 MYH9 ITGA2B
7 thrombocytosis 32.4 VWF U2AF1 THPO SERPINC1 SELP PF4
8 thrombocytopenia 31.7 VWF U2AF1 THPO SERPINC1 SELP RUNX1
9 thrombasthenia 31.4 SELP ITGA2B GP9 GP1BA F3
10 von willebrand disease, type 1 31.2 VWF GP1BA F8 F3
11 von willebrand's disease 31.1 VWF SELP PF4 GP9 GP1BA F8
12 endocarditis 31.0 SERPINC1 PF4 GP1BA
13 von willebrand disease, type 2 31.0 VWF GP1BA F8
14 thrombocytopenia due to platelet alloimmunization 31.0 THPO SELP PF4 ITGA2B GP9 GP1BA
15 angiodysplasia 31.0 VWF F8 F3
16 hemophilia a 30.9 VWF F8 F3
17 marantic endocarditis 30.9 VWF SERPINC1 SELP F3
18 thrombocytopenic purpura, autoimmune 30.9 THPO SELP ITGA2B GP5 GP1BA F8
19 glanzmann thrombasthenia 30.9 VWF SELP PF4 ITGA2B GP9 GP1BA
20 factor xi deficiency 30.8 VWF SERPINC1 F8 F3 F10
21 acquired von willebrand syndrome 30.8 VWF U2AF1 GP1BA F8 F3
22 hemophilia b 30.8 VWF SERPINC1 PF4 F8 F3 F10
23 thrombophilia 30.7 VWF SERPINC1 SELP PF4 F8 F3
24 compartment syndrome 30.7 SERPINC1 F8 F3
25 disseminated intravascular coagulation 30.7 VWF SERPINC1 F3 F10
26 thrombophilia due to thrombin defect 30.6 SERPINC1 PF4 F8 F3 F10
27 thrombotic thrombocytopenic purpura 30.6 VWF SERPINC1 SELP F3
28 autosomal dominant macrothrombocytopenia 30.5 MYH9 ITGA2B GP1BB GP1BA
29 factor xiii deficiency 30.5 VWF SERPINC1 F8 F3
30 fetal and neonatal alloimmune thrombocytopenia 30.4 ITGA2B GP1BB GP1BA
31 megakaryocytic leukemia 30.4 VWF U2AF1 THPO SELP RUNX1 PF4
32 diabetes mellitus 30.4 VWF SERPINC1 SELP PF4 GP1BA F8
33 heparin-induced thrombocytopenia 30.3 SERPINC1 PF4 F3 F10
34 hemorrhagic disease 30.3 VWF SERPINC1 PF4 ITGA2B GP1BA F8
35 essential thrombocythemia 30.3 VWF U2AF1 THPO SERPINC1 SELP PTGS1
36 peripheral vascular disease 30.3 VWF SERPINC1 SELP PF4 F3
37 pulmonary embolism 30.3 VWF SERPINC1 PF4 GP1BA F8 F3
38 polycythemia vera 30.2 VWF U2AF1 THPO SELP PF4
39 portal hypertension 30.2 VWF THPO F3
40 deficiency anemia 30.2 U2AF1 THPO SERPINC1 SELP
41 myeloproliferative neoplasm 30.2 VWF U2AF1 THPO SELP RUNX1 PF4
42 thrombosis 30.2 VWF SERPINC1 SELP PTGS1 PF4 ITGA2B
43 pre-eclampsia 30.2 VWF SERPINC1 SELP F8 F3
44 aplastic anemia 30.2 VWF U2AF1 THPO SERPINC1 ITGA2B
45 stroke, ischemic 30.1 VWF SERPINC1 SELP PF4 GP1BA F3
46 heart disease 30.1 VWF SERPINC1 SELP PTGS1 PF4 F8
47 myelofibrosis 30.1 U2AF1 THPO SELP RUNX1
48 vascular disease 30.0 VWF SERPINC1 SELP PTGS1 PF4 ITGA2B
49 myocardial infarction 29.8 VWF SERPINC1 SELP PTGS1 PF4 ITGA2B
50 malaria 29.6 VWF SERPINC1 SELP PTGS1 PF4 F3

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

Diseases related to Blood Platelet Disease

Symptoms & Phenotypes for Blood Platelet Disease

UMLS symptoms related to Blood Platelet Disease:

edema, chest pain, angina pectoris

GenomeRNAi Phenotypes related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.53 U2AF1
2 Decreased viability GR00249-S 9.53 COX5A F10 PF4 RUNX1
3 Decreased viability GR00386-A-1 9.53 F8 GP1BA ITGA2B PF4 SELP THPO
4 Decreased viability GR00402-S-2 9.53 COX5A PF4 RUNX1 THPO U2AF1

MGI Mouse Phenotypes related to Blood Platelet Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 F2R F3 F8 GP1BA GP1BB GP9
2 cardiovascular system MP:0005385 9.96 F10 F2R F3 ITGA2B MYH9 PTGS1
3 homeostasis/metabolism MP:0005376 9.86 F10 F2R F3 F8 GP1BA GP1BB
4 immune system MP:0005387 9.4 F2R F3 F8 GP1BB ITGA2B MYH9

Drugs & Therapeutics for Blood Platelet Disease

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

(show top 50) (show all 137)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Tranexamic Acid Approved Phase 4 1197-18-8 5526
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
Sodium citrate Approved, Investigational Phase 4 68-04-2
Acetaminophen Approved Phase 4 103-90-2 1983
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
7 Liver Extracts Phase 4
8 Antifibrinolytic Agents Phase 4
9 calcium heparin Phase 4
10 Calcium, Dietary Phase 4
11 Citrate Phase 4
12 Anticoagulants Phase 4
13 Analgesics, Opioid Phase 4
14 Chelating Agents Phase 4
15 Dialysis Solutions Phase 4
16 Pharmaceutical Solutions Phase 4
17 Ketorolac Tromethamine Phase 4
18 Hemostatics Phase 4
19 Deamino Arginine Vasopressin Phase 4
20 Vasopressins Phase 4
21 Arginine Vasopressin Phase 4
22 Coagulants Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
Thrombin Approved, Investigational Phase 3
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
Salicylic acid Approved, Investigational, Vet_approved Phase 2, Phase 3 69-72-7 338
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
33 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
Empagliflozin Approved Phase 2, Phase 3 864070-44-0
Danazol Approved Phase 3 17230-88-5 28417
Hydroxyurea Approved Phase 3 127-07-1 3657
Melphalan Approved Phase 3 148-82-3 460612 4053
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
40 Immunosuppressive Agents Phase 3
41 Anti-Infective Agents Phase 2, Phase 3
42 Antifungal Agents Phase 2, Phase 3
43 Protamines Phase 3
44 Dermatologic Agents Phase 2, Phase 3
45 Antineoplastic Agents, Hormonal Phase 2, Phase 3
46 Methylprednisolone Acetate Phase 2, Phase 3
47 Salicylates Phase 2, Phase 3
48 Keratolytic Agents Phase 2, Phase 3
49 Sodium-Glucose Transporter 2 Inhibitors Phase 2, Phase 3
50 Hypoglycemic Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 126)
# 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 Pacritinib Versus Physician's Choice in Patients With Primary Myelofibrosis, Post Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis With Severe Thrombocytopenia (Platelet Count <50,000/μL)(PACIFICA) Recruiting NCT03165734 Phase 3 Pacritinib;Physician's Choice medications
18 The Effect of empagliFlozin on Platelet Function profilEs in diabetiC patienTs - The EFFECT Study. Recruiting NCT04342819 Phase 2, Phase 3 SGLT2 inhibitor
19 The Effect of Dapagliflozin on Platelet Function testinG Profiles in Diabetic PatiEnts: The EDGE Study. Recruiting NCT04400760 Phase 2, Phase 3 DAPA Tx
20 A Randomized Trial of Recombinant Human Thrombopoietin Versus Placebo for Low/Intermediate-1 Risk Myelodysplastic Syndromes With Thrombocytopenia Active, not recruiting NCT04324060 Phase 2, Phase 3 Danazol + rhTPO (recombinant human thrombopoietin injection);Danazol + sodium chloride
21 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
22 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
23 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
24 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)
25 An Exploratory Phase II Dose Escalation Study of Eltrombopag in MYH9 Related Disease Completed NCT01133860 Phase 2 eltrombopag
26 Eltrombopag for Inherited Thrombocytopenias Completed NCT02422394 Phase 2 Eltrombopag
27 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
28 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
29 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
30 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
31 Fibrinogen vs Placebo for Improvement of Clot Strength Completed NCT00493272 Phase 1, Phase 2 Fibrinogen
32 The Effects of loW Dose tIcagrelor on Platelet Function Testing in Patients With Stable Coronary arTery Disease: TWIST Trial Completed NCT04206176 Phase 1, Phase 2 Ticagrelor
33 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
34 Trimetazidine as an Adjunct to Enhance Clopidogrel Response: The TRACER Study. Completed NCT03603249 Phase 2 Trimetazidine
35 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
36 Desmopressin for Reversal of Antiplatelet Drugs in Stroke Due to Haemorrhage (DASH) Recruiting NCT03696121 Phase 2 Desmopressin Injection;Normal saline
37 Intrauterine Infusion of Autologous Platelet-Rich Plasma (PRP) in Women With Thin Endometrium Undergoing Embryo-transfer. Recruiting NCT03067623 Phase 2 PRP
38 A Phase II Trial of Avatrombopag for the Treatment of Thrombocytopenia After Allogeneic Hematopoietic Stem Cell Transplant Not yet recruiting NCT04312789 Phase 2 Avatrombopag
39 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
40 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
41 Post-operative Administration of Platelet Rich Plasma Sequestered Prior to Cardiopulmonary Bypass Reduces the Coagulopathy Associated With Complex Cardiac Surgery Terminated NCT00359398 Phase 2
42 The Impact of Various Storage Techniques on Platelet Function Withdrawn NCT03338660 Phase 2
43 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
44 Phase I Study of Cytolytic Viral Activation Therapy (CVAT) for Recurrent/Metastatic Nasopharyngeal Carcinoma Unknown status NCT02761291 Phase 1 Gemcitabine;Valproic acid;Valganciclovir
45 Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers Completed NCT02506023 Phase 1 Desmopressin
46 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
47 Impact of Citalopharm and Fluvoxamine on Platelet Response to Clopidogrel, a Randomized, Double-blind, Crossover Trial Completed NCT01396720 Phase 1 fluvoxamine;citalopharm
48 Safety and Efficacy of Octreotide LAR Depot in Left Ventricular Assist Device (LVAD) Associate Gastrointestinal (GI) Completed NCT01707225 Phase 1 Octreotide LAR Depot
49 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
50 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

Search NIH Clinical Center for Blood Platelet Disease

Cochrane evidence based reviews: blood platelet disorders

Genetic Tests for Blood Platelet Disease

Anatomical Context for Blood Platelet Disease

MalaCards organs/tissues related to Blood Platelet Disease:

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

Publications for Blood Platelet Disease

Articles related to Blood Platelet Disease:

(show top 50) (show all 424)
# Title Authors PMID Year
The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects. 42
31659778 2020
Essential Thrombocythemia. 42
31774958 2019
Shared and Tissue-Specific Expression Signatures between Bone Marrow from Primary Myelofibrosis and Essential Thrombocythemia. 42
31678370 2019
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
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 61 54
19357396 2009
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 61 54
18723428 2008
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. 61 54
18478040 2008
Familial myelodysplasia and acute myeloid leukaemia--a review. 54 61
18173751 2008
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies. 54 61
18166807 2008
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 54 61
17290219 2007
Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report. 54 61
16651876 2006
AML1 deletion in adult mice causes splenomegaly and lymphomas. 54 61
16247465 2006
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. 54 61
16044442 2005
Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. 61 54
15741216 2005
Structure and function of snake venom toxins interacting with human von Willebrand factor. 61 54
15922776 2005
Targeting platelet GPIbalpha transgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbbeta and GPIX. 54 61
15550031 2004
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
Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia. 54 61
15156185 2004
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
Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2. 61 54
14594802 2004
AML1/RUNX1 mutations are infrequent, but related to AML-M0, acquired trisomy 21, and leukemic transformation in pediatric hematologic malignancies. 54 61
12874780 2003
The role of a Runt domain transcription factor AML1/RUNX1 in leukemogenesis and its clinical implications. 54 61
12604126 2003
Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. 54 61
12393679 2003
Core binding factor genes and human leukemia. 61 54
12495904 2002
Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder. 54 61
11754414 2001
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. 54 61
11675361 2001
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. 61 54
9116284 1997
PMA induces platelet activation of specific antigens (CD62/CD63) in GpIIb-IIIa deficient platelets from Glanzmann's thrombasthenia. 61 54
16793673 1997
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. 61 54
8652809 1996
Down syndrome and leukemia, an update. 54 61
8545449 1995
Human platelet glycoprotein V: a surface leucine-rich glycoprotein related to adhesion. 61 54
2372284 1990
High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML. 61
32315381 2020
Baseline dysmegakaryopoiesis in inherited thrombocytopenia/platelet disorder with predisposition to haematological malignancies. 61
32103500 2020
Characterizing female patients with haemophilia A: Administrative claims analysis and medical chart review. 61
32268006 2020
RUNX1 and TGF-β signaling cross talk regulates Ca2+ ion channels expression and activity during megakaryocyte development. 61
32281291 2020
Management of Quebec Platelet Disorder for Cervical Facet Injections in the Outpatient Setting: A Case Report. 61
32224694 2020
Pseudothrombocytopenia by ethylenediaminetetraacetic acid can jeopardize patient safety - report. 61
32256290 2020
Management of siblings with Glanzmann's thrombasthenia: A case report. 61
32509680 2020
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. 61
32208489 2020
Comparison of the structural dynamic and mitochondrial electron-transfer properties of the proapoptotic human cytochrome c variants, G41S, Y48H and A51V. 61
31760234 2020
Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms. 61
32060405 2020
The Clinical, Molecular, and Mechanistic Basis of RUNX1 Mutations Identified in Hematological Malignancies. 61
31964134 2020
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
Genomic analysis of a familial myelodysplasia/acute myeloid leukemia and inherited RUNX1 mutations without a pre-existing platelet disorder. 61
31385734 2020
A 2/1 Sunitinib Dosing Schedule Provides Superior Antitumor Effectiveness and Less Toxicity Than a 4/2 Schedule for Metastatic Renal Cell Carcinoma: A Systematic Review and Meta-Analysis. 61
32211333 2020
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. 61
31562665 2020
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
Successful Use of Hematopoietic Stem Cell Transplantation for 2 Pediatric Cases of Glanzmann Thrombasthenia and Review of the Literature. 61
31693514 2019
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. 61
31648317 2019
Inherited disorders of the fibrinolytic pathway. 61
31427261 2019

Variations for Blood Platelet Disease

Copy number variations for Blood Platelet Disease from CNVD:

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

Expression for Blood Platelet Disease

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

Pathways for Blood Platelet Disease

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

(show all 12)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
3 12.14 VWF SERPINC1 F8 F3 F2R F10
Show member pathways
Show member pathways
10 11.37 RUNX1 ITGA2B GP9
11 10.88 VWF GP9 GP5 GP1BB GP1BA
12 10.72 VWF GP9 GP5 GP1BB GP1BA

GO Terms for Blood Platelet Disease

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 extracellular space GO:0005615 9.86 THPO SERPINC1 SELP PF4 GP1BA F8
3 extracellular region GO:0005576 9.81 VWF THPO SERPINC1 PF4 F8 F3
4 platelet alpha granule membrane GO:0031092 9.32 SELP ITGA2B
5 platelet alpha granule lumen GO:0031093 9.13 VWF PF4 F8
6 intrinsic component of external side of plasma membrane GO:0031233 8.62 F3 F10

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.92 VWF SELP MYH9 ITGA2B GP9 GP5
2 platelet activation GO:0030168 9.86 VWF PF4 GP9 GP5 GP1BB GP1BA
3 platelet degranulation GO:0002576 9.77 VWF SELP PF4 ITGA2B F8
4 regulation of megakaryocyte differentiation GO:0045652 9.73 RUNX1 PF4 ITGA2B GP1BA
5 platelet aggregation GO:0070527 9.65 MYH9 ITGA2B GP1BA
6 blood coagulation GO:0007596 9.65 VWF SERPINC1 GP9 GP5 GP1BB GP1BA
7 blood coagulation, intrinsic pathway GO:0007597 9.63 VWF GP9 GP5 GP1BB GP1BA F8
8 regulation of blood coagulation GO:0030193 9.58 SERPINC1 GP1BA F2R
9 positive regulation of leukocyte migration GO:0002687 9.51 SELP ITGA2B
10 thrombin-activated receptor signaling pathway GO:0070493 9.49 GP1BA F2R
11 blood coagulation, extrinsic pathway GO:0007598 9.46 F3 F10
12 hemostasis GO:0007599 9.32 VWF SERPINC1 GP9 GP5 GP1BB GP1BA

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 for Blood Platelet Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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