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 72
Blood Platelet Disorders 75 44 72
Platelet Disorder 12 75 55
Platelet Dysfunction 55 72
Thrombocytopathy 12 75
Qualitative Platelet Deficiency 72
Platelet Disorders 43


External Ids:

Disease Ontology 12 DOID:2218
MeSH 44 D001791
SNOMED-CT 68 22716005
UMLS 72 C0005818 C0235604 C0679429 more

Summaries for Blood Platelet Disease

MedlinePlus : 43 Platelets, also known as thrombocytes, are small pieces of 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 not known, 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 pseudo-von willebrand disease and myh-9 related disease, and has symptoms including angina pectoris, edema and chest pain. 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 Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are no effect and hematopoietic system

Wikipedia : 75 Platelets, also called thrombocytes (from Greek ???????, "clot" and ?????, "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 351)
# Related Disease Score Top Affiliating Genes
1 pseudo-von willebrand disease 32.7 VWF GP9 GP1BB GP1BA
2 myh-9 related disease 32.7 MYH9 GP1BA
3 gray platelet syndrome 32.5 VWF SELP GP9 GP5
4 factor v deficiency 32.2 VWF F8 F3 F10 COX5A
5 thrombocytosis 31.9 THPO SERPINC1 SELP MPL F3
6 bernard-soulier syndrome 31.8 VWF THPO MYH9 ITGB3 ITGA2B GP9
7 von willebrand disease, type 1 31.1 VWF F8 F3
9 hemophilia 30.9 VWF F8 F3
10 acquired von willebrand syndrome 30.9 VWF GP1BA F8
11 thrombophilia 30.7 VWF SERPINC1 F8 F3
12 thrombasthenia 30.6 SELP ITGB3 ITGA2B GP9 GP1BA F3
13 hemophilia a 30.6 VWF F8 F3 F10
14 von willebrand's disease 30.5 VWF SELP GP1BA F8 F3 ADAMTS13
15 hemophilia b 30.4 SERPINC1 F8 F3 F10
16 disseminated intravascular coagulation 30.4 SERPINC1 F3 ADAMTS13
17 thrombocytopenia-absent radius syndrome 30.4 THPO MPL GP1BA
18 bleeding disorder, platelet-type, 16 30.3 ITGB3 ITGA2B
19 thrombotic thrombocytopenic purpura 30.2 VWF SELP F3 ADAMTS13
20 heparin-induced thrombocytopenia 30.1 SERPINC1 F3 F10
21 thrombocytopenia 30.1 THPO PF4 MYH9 MPL ITGB3 ITGA2B
22 megakaryocytic leukemia 30.1 VWF THPO RUNX1 PF4 ITGA2B
23 thrombocytopenic purpura, autoimmune 30.0 THPO SELP MPL ITGB3 ITGA2B GP1BA
24 fetal and neonatal alloimmune thrombocytopenia 30.0 ITGB3 ITGA2B GP1BB GP1BA
25 peripheral vascular disease 30.0 VWF SERPINC1 SELP F3
26 cerebrovascular disease 30.0 VWF SELP ITGA2B
27 pulmonary embolism 30.0 VWF SERPINC1 F3 F10
28 autosomal dominant macrothrombocytopenia 29.9 MYH9 ITGB3 ITGA2B GP1BB GP1BA
29 pre-eclampsia 29.9 VWF SERPINC1 SELP F3
30 platelet aggregation, spontaneous 29.9 VWF SERPINC1 SELP PF4
31 thrombocytopenia due to platelet alloimmunization 29.9 THPO SELP MYH9 MPL ITGB3 ITGA2B
32 thrombophilia due to thrombin defect 29.8 VWF SERPINC1 F8 F3 F10
33 von willebrand disease, type 2 29.8 VWF ITGB3 ITGA2B GP1BA F8 F3
34 glanzmann thrombasthenia 29.7 VWF SELP ITGB3 ITGA2B GP9 GP1BA
35 vascular disease 29.4 VWF SERPINC1 SELP ITGB3 GP1BA F3
36 heart disease 29.4 VWF SERPINC1 SELP PF4 F8 F3
37 polycythemia vera 29.4 THPO SELP PF4 MPL ITGB3
38 stroke, ischemic 29.3 VWF SERPINC1 SELP PF4 F3 ADAMTS13
39 malaria 29.3 VWF SERPINC1 SELP PF4 F3 ADAMTS13
40 thrombosis 28.8 VWF SERPINC1 SELP PF4 GP1BA F8
41 essential thrombocythemia 28.7 VWF THPO SELP PF4 MPL ITGB3
42 hemorrhagic disease 28.1 VWF THPO SERPINC1 PF4 MPL ITGA2B
43 myocardial infarction 27.6 VWF SERPINC1 SELP PF4 ITGB3 ITGA2B
44 quebec platelet disorder 12.7
45 platelet disorder, familial, with associated myeloid malignancy 12.7
46 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality 12.4
47 platelet disorder, undefined 12.3
48 isolated hereditary giant platelet disorder 12.3
49 thrombocytopenia with beta-thalassemia, x-linked 12.2
50 gastrointestinal ulceration, recurrent, with dysfunctional platelets 12.1

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:

angina pectoris, edema, chest pain

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

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ADAMTS13 COX5A F10 F2R F3 F8

MGI Mouse Phenotypes related to Blood Platelet Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.19 ADAMTS13 F2R F3 F8 GP1BA GP1BB
2 homeostasis/metabolism MP:0005376 10.11 ADAMTS13 F10 F2R F3 F8 GP1BA
3 cardiovascular system MP:0005385 10.07 F10 F2R F3 ITGA2B ITGB3 MYH9
4 embryo MP:0005380 9.92 F2R F3 ITGA2B ITGB3 MPL MYH9
5 immune system MP:0005387 9.77 ADAMTS13 F2R F3 F8 ITGA2B ITGB3
6 mortality/aging MP:0010768 9.4 ADAMTS13 F10 F2R F3 F8 ITGB3

Drugs & Therapeutics for Blood Platelet Disease

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

(show top 50) (show all 166)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Tranexamic Acid Approved Phase 4 1197-18-8 5526
Sodium citrate Approved, Investigational Phase 4 68-04-2
Acetaminophen Approved Phase 4 103-90-2 1983
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
7 Liver Extracts Phase 4
8 Calcium, Dietary Phase 4
9 Antifibrinolytic Agents Phase 4
10 Factor VIII 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 Hemostatics Phase 4
18 Natriuretic Agents Phase 4
19 Coagulants Phase 4
20 Deamino Arginine Vasopressin Phase 4
21 arginine Phase 4
22 Vasopressins Phase 4
23 Arginine Vasopressin Phase 4
Thrombin Approved, Investigational Phase 3
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
Salicylic acid Approved, Investigational, Vet_approved Phase 2, Phase 3 69-72-7 338
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
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
35 Deslorelin Investigational, Vet_approved Phase 2, Phase 3 57773-65-6
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
37 Immunosuppressive Agents Phase 3
38 Anti-Infective Agents Phase 2, Phase 3
39 Protective Agents Phase 2, Phase 3
40 Hormones Phase 2, Phase 3
41 Protamines Phase 3
42 Antifungal Agents Phase 2, Phase 3
43 Hormone Antagonists Phase 2, Phase 3
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
45 Gastrointestinal Agents Phase 2, Phase 3
46 Dermatologic Agents Phase 2, Phase 3
47 Salicylates Phase 2, Phase 3
48 Neuroprotective Agents Phase 2, Phase 3
49 Antiemetics Phase 2, Phase 3
50 Methylprednisolone Acetate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 122)
# 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 Assessment of Coagulation Abnormalities in Acute on Chronic Liver Failure Patients Using Thromboelastography Unknown status NCT02757170 Phase 4
4 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
5 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
6 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
7 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
8 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
9 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
10 Placebo-Controlled, Randomized, Double-Blind Trial of Prophylactic Desmopressin in Heart Valve Surgery Active, not recruiting NCT03343418 Phase 4 Desmopressin;Placebo
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 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
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 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)
22 An Exploratory Phase II Dose Escalation Study of Eltrombopag in MYH9 Related Disease Completed NCT01133860 Phase 2 eltrombopag
23 Eltrombopag for Inherited Thrombocytopenias Completed NCT02422394 Phase 2 Eltrombopag
24 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
25 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
26 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
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 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
30 Desmopressin for Reversal of Antiplatelet Drugs in Stroke Due to Haemorrhage (DASH) Recruiting NCT03696121 Phase 2 Desmopressin Injection;Normal saline
31 Intrauterine Infusion of Autologous Platelet-Rich Plasma (PRP) in Women With Thin Endometrium Undergoing Embryo-transfer. Recruiting NCT03067623 Phase 2 PRP
32 Trimetazidine as an Adjunct to Enhance Clopidogrel Response: The TRACER Study. Active, not recruiting NCT03603249 Phase 2 Trimetazidine
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

Genetic Tests for Blood Platelet Disease

Anatomical Context for Blood Platelet Disease

MalaCards organs/tissues related to Blood Platelet Disease:

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

Publications for Blood Platelet Disease

Articles related to Blood Platelet Disease:

(show top 50) (show all 405)
# Title Authors PMID Year
Sticky Platelet Syndrome: 35 Years of Growing Evidence. 38 17
30630207 2019
Update on diagnostic testing for platelet function disorders: What is practical and useful? 17
31069975 2019
Cepeginterferon alfa-2b in the treatment of chronic myeloproliferative diseases. 17
30701919 2018
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. 9 38
19946261 2010
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 9 38
19357396 2009
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 9 38
18723428 2008
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. 9 38
18478040 2008
Familial myelodysplasia and acute myeloid leukaemia--a review. 9 38
18173751 2008
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies. 9 38
18166807 2008
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 9 38
17290219 2007
Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report. 9 38
16651876 2006
AML1 deletion in adult mice causes splenomegaly and lymphomas. 9 38
16247465 2006
Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. 9 38
16044442 2005
Structure and function of snake venom toxins interacting with human von Willebrand factor. 9 38
15922776 2005
Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. 9 38
15741216 2005
Targeting platelet GPIbalpha transgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbbeta and GPIX. 9 38
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. 9 38
15339695 2004
Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia. 9 38
15156185 2004
AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis. 9 38
14966519 2004
Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2. 9 38
14594802 2004
AML1/RUNX1 mutations are infrequent, but related to AML-M0, acquired trisomy 21, and leukemic transformation in pediatric hematologic malignancies. 9 38
12874780 2003
The role of a Runt domain transcription factor AML1/RUNX1 in leukemogenesis and its clinical implications. 9 38
12604126 2003
Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. 9 38
12393679 2003
Core binding factor genes and human leukemia. 9 38
12495904 2002
Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder. 9 38
11754414 2001
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. 9 38
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. 9 38
9116284 1997
PMA induces platelet activation of specific antigens (CD62/CD63) in GpIIb-IIIa deficient platelets from Glanzmann's thrombasthenia. 9 38
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. 9 38
8652809 1996
Down syndrome and leukemia, an update. 9 38
8545449 1995
Human platelet glycoprotein V: a surface leucine-rich glycoprotein related to adhesion. 9 38
2372284 1990
Longitudinal sequencing of RUNX1 familial platelet disorder: new insights into genetic mechanisms of transformation to myeloid malignancies. 38
31124578 2019
Genomic analysis of a familial myelodysplasia/acute myeloid leukemia and inherited RUNX1 mutations without a pre-existing platelet disorder. 38
31385734 2019
Inherited disorders of the fibrinolytic pathway. 38
31427261 2019
Mechanisms of thrombocytopenia in platelet-type von Willebrand disease. 38
30655369 2019
Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy. 38
30600763 2019
Whole Exome Sequencing of an X-linked Thrombocytopenia Patient with Normal Sized Platelets. 38
31379999 2019
RUNX1-targeted therapy for AML expressing somatic or germline mutation in RUNX1. 38
31023702 2019
Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs. 38
31010659 2019
A Case of Chronic Thrombocytopenia in a 17-Year-Old Female. 38
31228350 2019
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. 38
30545930 2019
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. 38
31079661 2019
Weak correlation of bleeding scores to platelet electron microscopy: A retrospective chart review of pediatric patients with delta-storage pool disorder. 38
30345617 2019
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing. 38
30990103 2019
Erratum: Quebec Platelet Disorder: Update on Pathogenesis, Diagnosis, and Treatment. 38
30641578 2019
Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1: Cytogenetic and Molecular Characterization. 38
30800047 2019
Usefulness of multiple electrode aggregometry as a screening tool for bleeding disorders in a pediatric hospital. 38
29787319 2019
Systematic literature review of treatments used for adult immune thrombocytopenia in the second-line setting. 38
30264861 2019
Long-Term Remission of Acquired Von-Willebrand's Disease and Platelet Dysfunction after High-Dose Melphalan in a Patient with Multiple Myeloma. 38
31205622 2019
Platelet function assays in diagnosis: an update. 38
30571151 2019

Variations for Blood Platelet Disease

Copy number variations for Blood Platelet Disease from CNVD:

# CNVD ID Chromosom 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 15)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
3 12.11 VWF SERPINC1 F8 F3 F2R F10
Show member pathways
Show member pathways
Show member pathways
10 11.65 VWF ITGB3 F3
12 11.49 RUNX1 ITGB3 ITGA2B GP9
13 10.92 VWF GP9 GP5 GP1BB GP1BA
14 10.87 ITGB3 ITGA2B
15 10.77 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 integral component of plasma membrane GO:0005887 9.91 SELP ITGB3 GP9 GP5 GP1BB GP1BA
2 extracellular space GO:0005615 9.91 THPO SERPINC1 SELP PF4 GP1BA F8
3 endoplasmic reticulum lumen GO:0005788 9.78 SERPINC1 F8 F10 ADAMTS13
4 collagen-containing extracellular matrix GO:0062023 9.76 VWF SERPINC1 PF4 F3
5 platelet alpha granule lumen GO:0031093 9.58 VWF PF4 F8
6 intrinsic component of external side of plasma membrane GO:0031233 9.32 F3 F10
7 cell surface GO:0009986 9.17 MPL ITGB3 ITGA2B GP1BA F3 F2R
8 platelet alpha granule membrane GO:0031092 9.13 SELP ITGB3 ITGA2B
9 extracellular region GO:0005576 10.09 VWF THPO SERPINC1 PF4 F8 F3
10 plasma membrane GO:0005886 10 SERPINC1 SELP MYH9 MPL ITGB3 ITGA2B

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.88 VWF SELP PF4 ITGB3 ITGA2B F8
2 platelet activation GO:0030168 9.85 VWF PF4 ITGB3 GP9 GP5 GP1BB
3 integrin-mediated signaling pathway GO:0007229 9.78 MYH9 ITGB3 ITGA2B ADAMTS13
4 regulation of megakaryocyte differentiation GO:0045652 9.76 RUNX1 PF4 ITGA2B GP1BA
5 blood coagulation, intrinsic pathway GO:0007597 9.73 VWF GP9 GP5 GP1BB GP1BA F8
6 cell-matrix adhesion GO:0007160 9.72 ITGB3 ITGA2B ADAMTS13
7 platelet aggregation GO:0070527 9.72 MYH9 MPL ITGB3 ITGA2B GP1BA
8 hemostasis GO:0007599 9.7 VWF SERPINC1 GP9 GP5 GP1BB GP1BA
9 regulation of blood coagulation GO:0030193 9.61 SERPINC1 GP1BA F2R
10 cell-substrate adhesion GO:0031589 9.56 VWF ITGB3
11 positive regulation of leukocyte migration GO:0002687 9.54 SELP ITGA2B
12 thrombin-activated receptor signaling pathway GO:0070493 9.52 GP1BA F2R
13 thrombopoietin-mediated signaling pathway GO:0038163 9.51 THPO MPL
14 blood coagulation, extrinsic pathway GO:0007598 9.49 F3 F10
15 blood coagulation GO:0007596 9.4 VWF SERPINC1 ITGB3 GP9 GP5 GP1BB
16 cell adhesion GO:0007155 10.02 VWF SELP MYH9 ITGB3 ITGA2B GP9

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 9.6 VWF SERPINC1 SELP RUNX1 PF4 MYH9
2 integrin binding GO:0005178 9.46 VWF MYH9 ITGB3 ADAMTS13
3 thrombin-activated receptor activity GO:0015057 9.32 GP1BA F2R
4 fibrinogen binding GO:0070051 9.26 ITGB3 ITGA2B
5 protease binding GO:0002020 9.26 VWF SERPINC1 ITGB3 F3

Sources for Blood Platelet Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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