MCID: THR014
MIFTS: 66

Thrombocytopenia

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases

Aliases & Classifications for Thrombocytopenia

Summaries for Thrombocytopenia

KEGG : 36 Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are relatively rare causes of thrombocytopenia, but some genes underlying these disorders have been elucidated. Some inherited syndromes predispose to the development of bone marrow failure or leukemia. For example, familial platelet disorder with associated myeloid malignancy (FPDMM) is characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia.

MalaCards based summary : Thrombocytopenia is related to thrombocytopenia-absent radius syndrome and bernard-soulier syndrome. An important gene associated with Thrombocytopenia is ANKRD26 (Ankyrin Repeat Domain 26), and among its related pathways/superpathways are Tight junction and Response to elevated platelet cytosolic Ca2+. The drugs Certoparin and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are cellular and hematopoietic system

Disease Ontology : 12 A blood platelet disease that is characterized by low a platelet count in the blood.

PubMed Health : 62 About thrombocytopenia: Thrombocytopenia (THROM-bo-si-to-PE-ne-ah) is a condition in which your blood has a lower than normal number of blood cell fragments called platelets (PLATE-lets). Platelets are made in your bone marrow along with other kinds of blood cells. They travel through your blood vessels and stick together (clot) to stop any bleeding that may happen if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites) because a clot also is called a thrombus.

Wikipedia : 73 Thrombocytopenia is a condition characterized by abnormally low levels of platelets, also known as... more...

Related Diseases for Thrombocytopenia

Diseases in the Thrombocytopenia family:

Thrombocytopenia 2 Thrombocytopenia 3
Thrombocytopenia 1 Thrombocytopenia 4
Thrombocytopenia 5 Thrombocytopenia 6
Thrombocytopenia 7 Acquired Thrombocytopenia
Thrombocytopenia Due to Platelet Alloimmunization Primary Thrombocytopenia
Ankrd26-Related Thrombocytopenia

Diseases related to Thrombocytopenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1570)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia-absent radius syndrome 33.9 SLFN14 NBEAL2 MPL GP1BB GFI1B ANKRD26
2 bernard-soulier syndrome 33.2 VWF SEPT5-GP1BB P2RY12 NBEAL2 MYH9 MPL
3 thrombocytopenic purpura, autoimmune 33.2 MPL ITGA2B ADAMTS13
4 fetal and neonatal alloimmune thrombocytopenia 33.2 ITGA2B GP1BB
5 acquired thrombocytopenia 33.1 MYH9 MPL ITGA2B GP1BB F11 ANKRD26
6 myh-9 related disease 33.0 MYH9 MPL GP1BB ANKRD26 ACTN1
7 platelet disorder, familial, with associated myeloid malignancy 32.8 RUNX1 ETV6 ANKRD26
8 blood platelet disease 32.8 WAS VWF RUNX1 NBEAL2 MYH9 MPL
9 primary thrombocytopenia 32.8 VWF MPL ITGA2B ADAMTS13
10 purpura 32.7 VWF MPL ITGA2B ADAMTS13
11 gray platelet syndrome 32.7 VWF NBEAL2 MYH9 ITGA2B GFI1B
12 ankrd26-related thrombocytopenia 32.6 MYH9 ANKRD26
13 etv6 thrombocytopenia and predisposition to leukemia 32.5 RUNX1 ETV6
14 thrombotic microangiopathy 32.3 VWF ADAMTS13
15 thrombosis 32.2 VWF P2RY12 ITGA2B F11 ADAMTS13
16 pseudo-von willebrand disease 32.0 VWF GP1BB
17 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 32.0 RUNX1 ETV6
18 myelodysplastic syndrome 32.0 RUNX1 MPL ITGA2B ETV6 ANKRD26
19 storage pool platelet disease 31.9 RUNX1 GFI1B
20 aplastic anemia 31.9 VWF RUNX1 MPL ITGA2B GFI1B
21 hemorrhagic disease 31.7 VWF SLFN14 RUNX1 P2RY12 NBEAL2 MYH9
22 von willebrand's disease 31.6 VWF ITGA2B F11 ADAMTS13
23 splenic sequestration 31.5 VWF MPL ITGA2B ADAMTS13
24 autosomal dominant macrothrombocytopenia 31.4 MYH9 ITGA2B GP1BB GFI1B ACTN1
25 intermediate coronary syndrome 31.3 VWF P2RY12 ITGA2B
26 myeloproliferative neoplasm 31.2 VWF RUNX1 MPL ETV6
27 glanzmann thrombasthenia 31.1 VWF ITGA2B GP1BB
28 coronary thrombosis 31.1 VWF P2RY12 ITGA2B
29 refractory anemia 30.8 RUNX1 MPL
30 intracranial thrombosis 30.7 VWF ITGA2B F11
31 acute megakaryocytic leukemia 30.6 RUNX1 MPL ITGA2B ETV6
32 von willebrand disease, type 2 30.6 VWF ADAMTS13
33 kaposiform hemangioendothelioma 30.6 VWF FLI1
34 aspirin allergy 30.4 P2RY12 ITGA2B
35 carotid artery thrombosis 30.3 VWF ITGA2B F11
36 hemarthrosis 30.1 VWF F11
37 angiodysplasia 30.1 VWF ADAMTS13
38 left bundle branch hemiblock 30.1 P2RY12 ITGA2B
39 thrombocytopenia due to platelet alloimmunization 11.8
40 thrombocytopenia 1 11.7
41 amegakaryocytic thrombocytopenia, congenital 11.7
42 heparin-induced thrombocytopenia 11.6
43 thrombocytopenia with beta-thalassemia, x-linked 11.6
44 dyserythropoietic anemia and thrombocytopenia 11.6
45 thrombocytopenia 2 11.5
46 thrombocytopenia 5 11.5
47 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.5
48 wiskott-aldrich syndrome 11.5
49 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 11.5
50 thrombocytopenia 3 11.5

Graphical network of the top 20 diseases related to Thrombocytopenia:



Diseases related to Thrombocytopenia

Symptoms & Phenotypes for Thrombocytopenia

MGI Mouse Phenotypes related to Thrombocytopenia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 ETV6 F11 FLI1 GBA GFI1B ITGA2B
2 hematopoietic system MP:0005397 10.03 ADAMTS13 ETV6 F11 FLI1 GBA GFI1B
3 cardiovascular system MP:0005385 10.02 ANKRD26 ETV6 F11 FLI1 GBA GFI1B
4 homeostasis/metabolism MP:0005376 9.83 ADAMTS13 ANKRD26 ETV6 F11 GBA GFI1B
5 immune system MP:0005387 9.47 ADAMTS13 ETV6 F11 FLI1 GBA GFI1B

Drugs & Therapeutics for Thrombocytopenia

PubMed Health treatment related to Thrombocytopenia: 62

Treatment for thrombocytopenia depends on its cause and severity. The main goal of treatment is to prevent death and disability caused by bleeding . If your condition is mild, you may not need treatment . A fully normal platelet count isn't necessary to prevent bleeding , even with severe cuts or accidents. Thrombocytopenia often improves when its underlying cause is treated. People who inherit the condition usually don't need treatment . If a reaction to a medicine is causing a low platelet count, your doctor may prescribe another medicine. Most people recover after the initial medicine has been stopped. For heparin -induced thrombocytopenia (HIT), stopping the heparin isn't enough. Often, you'll need another medicine to prevent blood clotting . If your immune system is causing a low platelet count, your doctor may prescribe medicines to suppress the immune system.

Drugs for Thrombocytopenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 299)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Certoparin Approved, Investigational Phase 4
2
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
3
Hydroxychloroquine Approved Phase 4 118-42-3 3652
4
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
5
Clarithromycin Approved Phase 4 81103-11-9 84029
6
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
7
glycyrrhizin Approved, Experimental Phase 4 1405-86-3 3495
8
Dimethyl sulfoxide Approved, Vet_approved Phase 4 67-68-5 679
9
Ribavirin Approved Phase 4 36791-04-5 37542
10
Desirudin Approved Phase 4 120993-53-5
11
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
12
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453 134070
13
Enoxolone Investigational Phase 4 471-53-4 18526330
14 Antiparasitic Agents Phase 4
15 Antiprotozoal Agents Phase 4
16 Antimalarials Phase 4
17
Caffeic acid Phase 4 331-39-5, 501-16-6 689043
18 Autoantibodies Phase 4
19 Cytochrome P-450 CYP3A Inhibitors Phase 4
20 Cytochrome P-450 Enzyme Inhibitors Phase 4
21 Tin Fluorides Phase 4
22 Nutrients Phase 4
23 Trace Elements Phase 4
24 Vitamins Phase 4
25 Micronutrients Phase 4
26 Calcium, Dietary Phase 4
27 Calciferol Phase 4
28 Vasoconstrictor Agents Phase 4
29 Antioxidants Phase 4
30 Protective Agents Phase 4
31 Liver Extracts Phase 4
32
Bilirubin Phase 4 635-65-4 5280352
33 Immunoglobulins, Intravenous Phase 4
34 gamma-Globulins Phase 4
35 Rho(D) Immune Globulin Phase 4
36 interferons Phase 4
37
Calcium Nutraceutical Phase 4 7440-70-2 271
38
Warfarin Approved Phase 3 81-81-2 54678486 6691
39
Selenium Approved, Investigational, Vet_approved Phase 2, Phase 3 7782-49-2
40
Dapsone Approved, Investigational Phase 3 80-08-0 2955
41
Pantoprazole Approved Phase 3 102625-70-7 4679
42
Metronidazole Approved Phase 3 443-48-1 4173
43
Ifosfamide Approved Phase 3 3778-73-2 3690
44
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
45
Tranexamic Acid Approved Phase 3 1197-18-8 5526
46
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
47
Sodium citrate Approved, Investigational Phase 3 68-04-2
48
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
49
Oseltamivir Approved Phase 3 204255-11-8, 196618-13-0 65028
50
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1

Interventional clinical trials:

(show top 50) (show all 527)
# Name Status NCT ID Phase Drugs
1 High-dose Use of Recombinant Human Thrombopoietin in Patients With Moderate or Severe Thrombocytopenia Induced by Chemotherapy Unknown status NCT03633019 Phase 4 rhTPO
2 Sirolimus in Patients With Connective Tissue Disease Related Thrombocytopenia (CTD-TP): a Single-arm, Open-label Clinical Trial in China Unknown status NCT03688191 Phase 4 Sirolimus
3 Randomized-Double Blind Trial to Assess the Incidence and Clinical Relevance of Heparin-Induced Thrombocytopenia (HIT) Antibodies in Trauma Patients Treated With Unfractionated or Low-Molecular Weight Heparin, the HIT-TRAP Trial Unknown status NCT00196417 Phase 4 Standard heparin (UFH) versus certoparin (LMWH)
4 Assessment of Platelet Function in Patients With Chronic Autoimmune Thrombocytopenic Purpura (cAITP) Treated With the Thrombopoietin Receptor (MPL) Agonist Eltrombopag. Completed NCT00888901 Phase 4 eltrombopag;corticosteroids (Aprednislon)
5 The Clinical Randomized Controlled Study of Different Dose Rituximab in the Treatment of Primary Immune Thrombocytopenia Completed NCT03258866 Phase 4 Rituximab;Rituximab
6 A Prospective, Phase IV, Open-Label, Multi-Center Study Evaluating Changes in Bone Marrow Morphology in Adult Subjects Receiving Romiplostim for the Treatment of Thrombocytopenia Associated With Immune (Idiopathic) Thrombocytopenia Purpura (ITP) Completed NCT00907478 Phase 4
7 Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin Completed NCT00039858 Phase 4 Argatroban
8 Evaluation of the Efficacy of Platelets Treated With Pathogen Reduction Process Completed NCT01789762 Phase 4
9 A Clinical Trial to Evaluate the Efficacy and Safety of Recombinant Human Thrombopoietin in the Treatment of Thrombocytopenia After Chemotherapy in Acute Myeloid Leukemia Completed NCT02267993 Phase 4 recombinant human thrombopoietin
10 Thrombopoietin-receptor Agonist-immunomodulation in Young Adult Primary Immune Thrombocytopenia (ITP): A Multi-center Open Label Trial With Romiplostim Completed NCT02760251 Phase 4 romiplostim
11 Reposition of Second Line Treatment in Chronic Immune Thrombocytopenia Completed NCT03229746 Phase 4 Hydroxychloroquine;vincristine;azathioprine
12 A Prospective, Multicenter, Placebo Controlled Study on Caffeic Acid Tablet Combining High-dose Dexamethasone in Management of Adult Primary Immune Thrombocytopenia (ITP) Completed NCT02556814 Phase 4 Caffeic acid tablets;Dexamethasone;placebo
13 Effect of Treatment Using rhIL-11 in Patients With Thrombocytopenia After Chemotherapy for Childhood Acute Lymphoblastic Leukemia Completed NCT02314273 Phase 4 rhIL-11
14 A Multicenter Study to Confirm the Efficacy and Safety of Fludara i.v. (Fludarabine Phosphate, SH L 573), Administered in 6 Treatment Cycles (1 Treatment Cycle: 5-consecutive Day Dosing, Followed by an Observation Period of 23 Days) in Untreated Chronic Lymphocytic Leukemia Patients With Anemia and/or Thrombocytopenia Completed NCT00220311 Phase 4 Fludarabine Phosphate (Fludara)
15 Bicentric Clinical Trial With in Vitro Experiments to Assess the Effect of Fibrinogen (FGTW) on Coagulation in Thrombocytopenia Completed NCT01955811 Phase 4 Administration of platelet concentrate and taking blood samples
16 Multicenter, Randomized, Open, Parallel Controlled Trials Evaluating the Efficacy and Safety of Different Human Thrombopoietin (rhTPO) Regimens in the Treatment of Patients With Primary Immune Thrombocytopenia (ITP) Completed NCT04089267 Phase 4 TPO
17 Post-Marketing Study to Evaluate the Efficacy and Safety of PANZYGA in Pediatric Patients With Chronic Immune Thrombocytopenia (ITP) Recruiting NCT03866798 Phase 4
18 Efficacy and Safety of rhTPO and Eltrombopag in the Treatment of Chinese Adults With Primary Immune Thrombocytopenia (ITP):a Multicenter, Double-blind, Randomized, Controlled Trial Recruiting NCT03771378 Phase 4 rhTPO;eltrombopag
19 Prospective, Multi-center, Open-label Study Measuring Safety and Treatment Satisfaction in Adult Subjects With Chronic Immune Thrombocytopenia (ITP) After Switching to Avatrombopag From Eltrombopag or Romiplostim Recruiting NCT04638829 Phase 4 Avatrombopag Oral Tablet
20 Effects of Helicobacter Pylori Eradication Therapy in Children With Chronic Immune Thrombocytopenic Purpura Recruiting NCT03172676 Phase 4 Amoxicillin 50 mg/kg/day in 2 divided doses for 14 days.;Clarithromycin 15 mg/kg/day in 2 divided doses for 14 days.;Proton pump inhibitor 1 mg/kg/day in 2 divided doses 1 month
21 A Single-center Prospective Randomized Study of Atorvastatin in the Treatment of Newly Diagnosed Primary Immune Thrombocytopenia (ITP) Recruiting NCT03692754 Phase 4 Atorvastatin 20mg;Atorvastatin 10mg
22 A Multisite, Randomized, Double-Blind, Placebo-Controlled, and Parallel Study to Evaluate the Efficacy and Safety of Huaiqihuang Granule in Children With Chronic Primary Immune Thrombocytopenia (Qi Yin Deficiency) Recruiting NCT03201848 Phase 4 Placebo;Huaiqihuang Granule
23 A Prospective, Single-center Clinical Trial of Pegylated Interferon Alfa-2b Versus Interferon Alfa Therapy in the Treatment of Childhood Essential Thrombocythemia Recruiting NCT04226950 Phase 4 Recombinant Interferon Alpha;Pegylated interferon alfa-2b
24 A Multicenter, Randomized, Open-label Study To Compare The Efficacy And Safety Of Eltrombopag Combining Rituximab With Eltrombopag In Adult ITP Patients Recruiting NCT04518475 Phase 4 eltrombopag combining rituximab;eltrombopag
25 A Single-center Prospective Randomized Study of Glycyrrhetinic Acid Combined With Dexamethasone in the Treatment of Newly Diagnosed Primary Immune Thrombocytopenia (ITP) Recruiting NCT03998982 Phase 4 Glycyrrhetinic Acid;Dexamethasone
26 Rate of Prolonged Response After Stopping Thrombopoietin-receptor Agonists Treatment in Immune Thrombocytopenia: a Prospective Multicenter Open Study Recruiting NCT03119974 Phase 4 Tpo-RA discontinuation
27 Study 200170: A Rollover Study to Provide Continued Treatment With Eltrombopag Active, not recruiting NCT01957176 Phase 4 ELT
28 Thromboprophylaxis With Fondaparinux of Deep Vein Thrombosis and Pulmonary Embolism in the Acutely-ill Medical Inpatients With Thrombocytopenia Active, not recruiting NCT01727401 Phase 4 Fondaparinux
29 Efficacy of Eltrombopag in Chronic Immune Thrombocytopenia in Pediatrics Not yet recruiting NCT04102033 Phase 4 Eltrombopag
30 A Multicenter Randomized Open-label Clinical Trial of Vitamin D Combined With HD-DXM Versus HD-DXM for the Treatment of ITP Not yet recruiting NCT04094805 Phase 4 Rocaltrol;Dexamethasone
31 Argatroban Versus Lepirudin in Critically Ill Patients - A Randomized Double-blind Trial Terminated NCT00798525 Phase 4 Argatroban;Lepirudin
32 Experimental Protocol for the Infusion of Platelets,Cryopreserved With Dimethyl Sulphoxide (DMSO) and Obtained From Multiple Donors Buffy Coats, in Patients With Severe Thrombocytopenia Terminated NCT02032134 Phase 4
33 The Safety and Efficacy of Intravenous Anti-D for the Treatment of Thrombocytopenia in Patients With HCV Infection Prior to or During Treatment With Pegylated-interferon and Ribavirin Terminated NCT00239733 Phase 4 Anti-D
34 A Comparative Clinical and Pharmacoeconomic Study Comparing Argatroban® IV vs Desirudin SC for Patients With Suspected Heparin-Induced Thrombocytopenia (HIT)With or Without Thrombosis Syndrome (HIT/TS) Terminated NCT00787332 Phase 4 Desirudin or Argatroban®
35 Fondaparinux in Patients With Acute Heparin-Induced Thrombocytopenia Withdrawn NCT00603824 Phase 4 fondaparinux;argatroban or lepirudin
36 Bivalirudin PCI Registry in HIT/HITTS Patients Withdrawn NCT00759083 Phase 4 bivalirudin
37 Different Cycles of High-dose Dexamethasone for Initial Management of Primary Immune Thrombocytopenia (ITP): a Prospective, Randomized Controlled Trial Withdrawn NCT02642380 Phase 4 Dexamethasone (4 cycles);Dexamethasone (1 cycle)
38 A Phase IV Study Evaluating Eltrombopag Concentrations in Breast Milk of Nursing Mothers Taking Eltrombopag Withdrawn NCT01055600 Phase 4 eltrombopag
39 Cyclophosphamide and Hydroxychloroquine for the Treatment of Severe Thrombocytopenia in Systemic Lupus Erythematosus Unknown status NCT02444728 Phase 3 Hydroxychloroquine;Cyclophosphamide;Azathioprine;Methylprednisolone
40 Evaluation of Oxidant Status in Patients With Immune Thrombocytopenia (ITP) and the Role of an Adjuvant Antioxidant Therapy Unknown status NCT01763658 Phase 2, Phase 3 Antox tablets(Mepaco)
41 Multi-Center Single Arm Trial to Determine The Effectiveness of Warfarin Therapy Duration For Heparin-Induced Thrombocytopenia (HIT) Unknown status NCT03147638 Phase 3 Warfarin, NOAC
42 A Multicenter Randomized Study of Dexamethasone Combined With Rituximab, Cyclosporin and Intravenous Immunoglobulin in the Management of Newly Diagnosed ITP Patients Unknown status NCT02834468 Phase 3 DEX Combined With RTX, CSA and IVIG
43 Thrombocytopenia in Gestational Period Unknown status NCT02751593 Phase 2, Phase 3 Dexamethasone
44 A Multicenter, Single-Arm, Open Label Study Evaluating the Efficacy and Safety of Maintenance Treatment With Recombinant Human Thrombopoietin in Thrombocytopenic Subjects With Immune Thrombocytopenia Unknown status NCT01805648 Phase 3 rhTPO
45 Recombinant Human Thrombopoietin (rhTPO) in Management of Immune Thrombocytopenia (ITP)in Pregnancy: a Single-center Clinical Trial Unknown status NCT02270801 Phase 3 rhTPO
46 Prospective Multicenter Randomized Open-label Controlled Trial Assessing Efficacy and Safety of DAPSone as a Second-line Option in Adult Immune Thrombocytopenia Unknown status NCT02627417 Phase 3 Dapsone (Disulone®);Prednisone (Cortancyl®) alone followed by monitoring and "standard of care";Prednisone (Cortancyl®)
47 A Multicenter Prospective Randomized Study of Rituximab Combined With Bortezomib Versus Rituximab in the Treatment of Newly Diagnosed Primary Immune Thrombocytopenia (ITP) Unknown status NCT03443570 Phase 3 Rituximab;Bortezomib
48 Recombinant Human Thrombopoietin (rhTPO) in Management of Chemotherapy-induced Thrombocytopenia in Acute Myelocytic Leukemia: a Multicenter Clinical Trial Unknown status NCT02244658 Phase 3 rhTPO
49 Megakaryocytic Progenitor Cells for Prophylaxis and Treatment of Thrombocytopenia in Patients With Acute Leukemia Receiving Chemotherapy Unknown status NCT02241031 Phase 2, Phase 3 thrombopoietin (TPO) and interleukin-11
50 Efficacy of Helicobacter Pylori Eradication for the Treatment of Chronic or Persistent Immune Thrombocytopenic Purpura Patients With Moderate Thrombocytopenia: Multicenter Prospective Randomized Phase 3 Study Unknown status NCT03177629 Phase 3 treatment : H. pylori eradication

Search NIH Clinical Center for Thrombocytopenia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Thrombocytopenia cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: thrombocytopenia

Genetic Tests for Thrombocytopenia

Genetic tests related to Thrombocytopenia:

# Genetic test Affiliating Genes
1 Thrombocytopenia 29

Anatomical Context for Thrombocytopenia

MalaCards organs/tissues related to Thrombocytopenia:

40
Bone Marrow, Bone, Myeloid, Liver, Breast, Kidney, Heart

Publications for Thrombocytopenia

Articles related to Thrombocytopenia:

(show top 50) (show all 30468)
# Title Authors PMID Year
1
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 6 61
25581430 2015
2
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
3
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. 6
32098966 2020
4
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
5
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 6
18723428 2008
6
Review article: optimizing SVR and management of the haematological side effects of peginterferon/ribavirin antiviral therapy for HCV - the role of epoetin, G-CSF and novel agents. 61 54
20175767 2010
7
Fructose-1,6-bisphosphate inhibits in vitro and ex vivo platelet aggregation induced by ADP and ameliorates coagulation alterations in experimental sepsis in rats. 61 54
19705256 2010
8
The prothrombotic potential of platelet factor 4. 61 54
20206875 2010
9
RUNX1/core binding factor A2 regulates platelet 12-lipoxygenase gene (ALOX12): studies in human RUNX1 haplodeficiency. 61 54
20181616 2010
10
Posttransplantation calcineurin inhibitor-induced hemolytic uremic syndrome: single-center experience. 54 61
20430179 2010
11
Proteinase-activated receptor (PAR1) polymorphic variant correlates with thrombocytopenia in Gaucher disease. 61 54
19969492 2010
12
Serum thrombopoietin level and thrombocytopenia during the neonatal period in infants with Down's syndrome. 54 61
19675574 2010
13
A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers. 61 54
19740526 2010
14
Alteration of serum thrombopoietin levels in patients with chronic hepatitis C under interferon therapy. 61 54
20203368 2010
15
Studies of the anti-platelet factor 4/heparin immune response: adapting the enzyme-linked immunosorbent spot assay for detection of memory B cells against complex antigens. 54 61
19709391 2010
16
Heparin-induced thrombocytopenia. 54 61
20059332 2010
17
Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation. 61 54
19679353 2010
18
Eltrombopag (Promacta), a thrombopoietin receptor agonist for the treatment of thrombocytopenia: current and future considerations. 54 61
19451811 2010
19
Heparin induced thrombocytopenia in a patient with factor V Leiden following cardiac surgery. 54 61
19783545 2009
20
Infectious causes of chronic immune thrombocytopenia. 54 61
19932434 2009
21
Mutation of the H-bond acceptor S119 in the ADAMTS13 metalloprotease domain reduces secretion and substrate turnover in a patient with congenital thrombotic thrombocytopenic purpura. 61 54
19786614 2009
22
An outbreak of Crimean-Congo hemorrhagic fever in western Anatolia, Turkey. 54 61
19409826 2009
23
Intracranial hemorrhage in dengue fever: management and outcome: a series of 5 cases and review of literature. 61 54
19328535 2009
24
Hereditary thrombocytopenia and acute myeloid leukemia: a common link due to a germline mutation in the AML1 gene. 54 61
19337732 2009
25
[Two Crimean-Congo hemorrhagic fever cases without history of tick contact from Ankara region]. 54 61
20084924 2009
26
Platelet function and the von Willebrand factor antigen in the hepatosplenic form of schistosomiasis mansoni. 54 61
19118853 2009
27
Evaluation of bone marrow reticulin formation in chronic immune thrombocytopenia patients treated with romiplostim. 61 54
19671919 2009
28
Immune mechanisms in heparin-induced thrombocytopenia: no evidence for immunoglobulin M anti-idiotype antibodies. 61 54
19497062 2009
29
Argatroban dosage requirements and outcomes in intensive care versus non-intensive care patients. 61 54
19698012 2009
30
Thrombopoietin receptor agonists in the treatment of thrombocytopenia. 61 54
19553811 2009
31
Treatment of autoimmune thrombocytopenia in a case of chronic hepatitis C with ursodeoxycholic acid. 54 61
19801810 2009
32
Thrombopoietin agonists for the treatment of thrombocytopenia in liver disease and hepatitis C. 61 54
19628164 2009
33
Therapeutic benefits of partial splenic embolization for thrombocytopenia in hepatocellular carcinoma patients treated with radiofrequency ablation. 61 54
19473438 2009
34
The new tyrosine-kinase inhibitor and anticancer drug dasatinib reversibly affects platelet activation in vitro and in vivo. 61 54
19494352 2009
35
Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. 54 61
19572073 2009
36
Association of genetic polymorphisms with interferon-induced haematologic adverse effects in chronic hepatitis C patients. 61 54
19200137 2009
37
Heparin induced thrombocytopenia and thrombosis in a tertiary care hospital. 61 54
19195684 2009
38
Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. 54 61
19351959 2009
39
Mutational inhibition of c-Myb or p300 ameliorates treatment-induced thrombocytopenia. 54 61
19252138 2009
40
Effectiveness of combination therapy of splenectomy and long-term interferon in patients with hepatitis C virus-related cirrhosis and thrombocytopenia. 54 61
19207581 2009
41
Identification of a predictive biomarker for hematologic toxicities of gemcitabine. 54 61
19289617 2009
42
An update on the prevalence and characterization of H-PF4 antibodies in Asian-Indian patients. 54 61
19452409 2009
43
Prolonged and severe thrombocytopenia with pancytopenia induced by radiation-combined temozolomide therapy in a patient with newly diagnosed glioblastoma--analysis of O6-methylguanine-DNA methyltransferase status. 61 54
19037596 2009
44
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 54 61
19302922 2009
45
Prevalence of heparin-induced antibody in African-American hemodialysis patients--comparison to non-dialysis patients. 61 54
19281736 2009
46
Clinical implications of alpha-fetoprotein in chronic hepatitis C. 54 61
19293036 2009
47
Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients. 54 61
19055667 2009
48
Incomplete restoration of Mpl expression in the mpl-/- mouse produces partial correction of the stem cell-repopulating defect and paradoxical thrombocytosis. 61 54
18796624 2009
49
[The analysis of thrombopoietin and clinical parameters as a marker for disease progression in patients with multiple myeloma]. 54 61
19262084 2009
50
Thrombocytopenia, an important interfering factor of antiviral therapy and hepatocellular carcinoma treatment for chronic liver diseases. 54 61
20103996 2009

Variations for Thrombocytopenia

ClinVar genetic disease variations for Thrombocytopenia:

6 (show top 50) (show all 352)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANKRD26 NM_014915.2(ANKRD26):c.-126T>C SNV Pathogenic 626941 rs1589393792 GRCh37: 10:27389381-27389381
GRCh38: 10:27100452-27100452
2 ANKRD26 NM_014915.2(ANKRD26):c.-127A>G SNV Pathogenic 626942 rs1589393799 GRCh37: 10:27389382-27389382
GRCh38: 10:27100453-27100453
3 ACTN1 NM_001102.4(ACTN1):c.136C>T (p.Arg46Trp) SNV Pathogenic 626995 rs747559032 GRCh37: 14:69392359-69392359
GRCh38: 14:68925642-68925642
4 SEPT5-GP1BB , GP1BB NM_000407.4(GP1BB):c.143C>A (p.Ser48Ter) SNV Pathogenic 627237 rs536874549 GRCh37: 22:19711509-19711509
GRCh38: 22:19723986-19723986
5 ANKRD26 NM_014915.3(ANKRD26):c.-128G>A SNV Pathogenic 812727 rs1589393809 GRCh37: 10:27389383-27389383
GRCh38: 10:27100454-27100454
6 SLFN14 NM_001129820.2(SLFN14):c.3_4insCTAGTCGACTATA (p.Glu2fs) Insertion Pathogenic 988815 GRCh37: 17:33885078-33885079
GRCh38: 17:35558059-35558060
7 ADAMTS13 NM_139027.6(ADAMTS13):c.1315G>T (p.Glu439Ter) SNV Pathogenic 988818 GRCh37: 9:136301955-136301955
GRCh38: 9:133436835-133436835
8 GFI1B NM_001377304.1(GFI1B):c.814+1G>A SNV Pathogenic 988821 GRCh37: 9:135865295-135865295
GRCh38: 9:132989908-132989908
9 ITGA2B NM_000419.5(ITGA2B):c.2176A>T (p.Lys726Ter) SNV Pathogenic 988822 GRCh37: 17:42455077-42455077
GRCh38: 17:44377709-44377709
10 NBEAL2 NM_015175.3(NBEAL2):c.6801+1G>C SNV Pathogenic 988824 GRCh37: 3:47047338-47047338
GRCh38: 3:47005848-47005848
11 VWF NM_000552.4(VWF):c.2516del (p.Gly839fs) Deletion Pathogenic 100225 rs61748481 GRCh37: 12:6145584-6145584
GRCh38: 12:6036418-6036418
12 SMAD4 NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAA Insertion Pathogenic 988858 GRCh37: 18:48584827-48584828
GRCh38: 18:51058457-51058458
13 MED12L , P2RY12 NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr) SNV Pathogenic 988856 GRCh37: 3:151055862-151055862
GRCh38: 3:151338074-151338074
14 LOC106627981 , GBA NM_000157.4(GBA):c.653G>A (p.Trp218Ter) SNV Pathogenic 632834 rs867929413 GRCh37: 1:155208033-155208033
GRCh38: 1:155238242-155238242
15 FLI1 NM_002017.5(FLI1):c.992_995del (p.Asn331fs) Deletion Pathogenic 424634 rs1064797085 GRCh37: 11:128680515-128680518
GRCh38: 11:128810620-128810623
16 MYH9 NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) SNV Pathogenic 14082 rs80338831 GRCh37: 22:36688106-36688106
GRCh38: 22:36292060-36292060
17 overlap with 4 genes GRCh37/hg19 15q11.2(chr15:22765628-23300287) copy number loss Pathogenic 523249 GRCh37: 15:22765628-23300287
GRCh38:
18 VWF NM_000552.4(VWF):c.7390C>T (p.Arg2464Cys) SNV Pathogenic 100467 rs61751286 GRCh37: 12:6085324-6085324
GRCh38: 12:5976158-5976158
19 ETV6 NM_001987.4(ETV6):c.1046T>C (p.Leu349Pro) SNV Pathogenic 190241 rs786205155 GRCh37: 12:12037415-12037415
GRCh38: 12:11884481-11884481
20 ETV6 NM_001987.4(ETV6):c.1046T>C (p.Leu349Pro) SNV Pathogenic 190241 rs786205155 GRCh37: 12:12037415-12037415
GRCh38: 12:11884481-11884481
21 ETV6 NM_001987.4(ETV6):c.1153-5_1153-1del Microsatellite Pathogenic 190240 GRCh37: 12:12038855-12038859
GRCh38: 12:11885921-11885925
22 ETV6 NM_001987.4(ETV6):c.1153-5_1153-1del Microsatellite Pathogenic 190240 GRCh37: 12:12038855-12038859
GRCh38: 12:11885921-11885925
23 RUNX1 NC_000021.9:g.34791392_34804065del Deletion Pathogenic 812915 GRCh37: 21:36163689-36176362
GRCh38:
24 RUNX1 NC_000021.8:g.36284364_37074805del Deletion Pathogenic 812916 GRCh37: 21:36284364-37074805
GRCh38:
25 RUNX1 NM_001754.5(RUNX1):c.508+1G>T SNV Pathogenic 988808 GRCh37: 21:36252853-36252853
GRCh38: 21:34880556-34880556
26 RUNX1 NM_001754.5(RUNX1):c.98-1G>A SNV Pathogenic 988809 GRCh37: 21:36259394-36259394
GRCh38: 21:34887097-34887097
27 overlap with 3 genes NC_000021.8:g.36323351_37470324del Deletion Pathogenic 812918 GRCh37: 21:36323351-37470324
GRCh38:
28 ETV6 NM_001987.5(ETV6):c.1288C>T (p.Arg430Ter) SNV Pathogenic 988827 GRCh37: 12:12043909-12043909
GRCh38: 12:11890975-11890975
29 RUNX1 NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter) SNV Pathogenic 988835 GRCh37: 21:36259174-36259174
GRCh38: 21:34886877-34886877
30 RUNX1 NM_001754.5(RUNX1):c.351+1G>T SNV Pathogenic 988837 GRCh37: 21:36259139-36259139
GRCh38: 21:34886842-34886842
31 MYH9 NM_002473.5(MYH9):c.5797C>T (p.Arg1933Ter) SNV Pathogenic 14072 rs80338835 GRCh37: 22:36678800-36678800
GRCh38: 22:36282754-36282754
32 MYH9 NM_002473.5(MYH9):c.3493C>T (p.Arg1165Cys) SNV Pathogenic 14074 rs80338829 GRCh37: 22:36691115-36691115
GRCh38: 22:36295069-36295069
33 F11 NM_000128.3(F11):c.403G>T (p.Glu135Ter) SNV Pathogenic 11891 rs121965063 GRCh37: 4:187195347-187195347
GRCh38: 4:186274193-186274193
34 RUNX1 NM_001754.5(RUNX1):c.165dup (p.Leu56fs) Duplication Pathogenic 1013619 GRCh37: 21:36259325-36259326
GRCh38: 21:34887028-34887029
35 RUNX1 NM_001754.5(RUNX1):c.351+1G>A SNV Pathogenic 561236 rs1060502579 GRCh37: 21:36259139-36259139
GRCh38: 21:34886842-34886842
36 ETV6 NM_001987.4(ETV6):c.1195C>T (p.Arg399Cys) SNV Pathogenic 162220 rs724159945 GRCh37: 12:12038902-12038902
GRCh38: 12:11885968-11885968
37 ETV6 NM_001987.4(ETV6):c.1106G>A (p.Arg369Gln) SNV Pathogenic 162221 rs724159946 GRCh37: 12:12037475-12037475
GRCh38: 12:11884541-11884541
38 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs) Deletion Pathogenic 128042 rs555607708 GRCh37: 22:29091857-29091857
GRCh38: 22:28695869-28695869
39 ITGA2B NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) SNV Pathogenic 50233 rs766503255 GRCh37: 17:42449776-42449776
GRCh38: 17:44372408-44372408
40 MPL NM_005373.2(MPL):c.305G>C (p.Arg102Pro) SNV Pathogenic 14158 rs28928907 GRCh37: 1:43804305-43804305
GRCh38: 1:43338634-43338634
41 WAS NM_000377.2(WAS):c.134C>T (p.Thr45Met) SNV Pathogenic 11123 rs132630273 GRCh37: X:48542673-48542673
GRCh38: X:48684284-48684284
42 LOC106627981 , GBA NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) SNV Pathogenic 4327 rs121908311 GRCh37: 1:155205614-155205614
GRCh38: 1:155235823-155235823
43 MPL NM_005373.3(MPL):c.79+2T>A SNV Likely pathogenic 135563 rs146249964 GRCh37: 1:43803600-43803600
GRCh38: 1:43337929-43337929
44 GP9 NM_000174.4(GP9):c.182A>G (p.Asn61Ser) SNV Likely pathogenic 13529 rs5030764 GRCh37: 3:128780764-128780764
GRCh38: 3:129061921-129061921
45 GATA1 NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) SNV Likely pathogenic 10424 rs104894816 GRCh37: X:48650784-48650784
GRCh38: X:48792377-48792377
46 RUNX1 NM_001754.4(RUNX1):c.611G>A (p.Arg204Gln) SNV Likely pathogenic 561253 rs1569061762 GRCh37: 21:36231773-36231773
GRCh38: 21:34859476-34859476
47 RUNX1 NM_001754.4(RUNX1):c.610C>T (p.Arg204Ter) SNV Likely pathogenic 561252 rs1569061768 GRCh37: 21:36231774-36231774
GRCh38: 21:34859477-34859477
48 TUBB1 NM_030773.3(TUBB1):c.326G>A (p.Gly109Glu) SNV Likely pathogenic 626929 rs41303899 GRCh37: 20:57598808-57598808
GRCh38: 20:59023753-59023753
49 ETV6 NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) SNV Likely pathogenic 162222 rs724159947 GRCh37: 12:12022535-12022535
GRCh38: 12:11869601-11869601
50 RUNX1 NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser) SNV Likely pathogenic 988857 GRCh37: 21:36252959-36252959
GRCh38: 21:34880662-34880662

Expression for Thrombocytopenia

Search GEO for disease gene expression data for Thrombocytopenia.

Pathways for Thrombocytopenia

Pathways related to Thrombocytopenia according to KEGG:

36
# Name Kegg Source Accession
1 Tight junction hsa04530

GO Terms for Thrombocytopenia

Biological processes related to Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.65 VWF ITGA2B ACTN1
2 platelet activation GO:0030168 9.65 VWF P2RY12 GP1BB ADAMTS13 ACTN1
3 blood coagulation GO:0007596 9.63 WAS VWF P2RY12 GP1BB F11 ADAMTS13
4 integrin-mediated signaling pathway GO:0007229 9.61 MYH9 ITGA2B ADAMTS13
5 platelet formation GO:0030220 9.58 NBEAL2 MYH9 ACTN1
6 blood coagulation, intrinsic pathway GO:0007597 9.54 VWF GP1BB F11
7 hematopoietic stem cell proliferation GO:0071425 9.5 RUNX1 GBA ETV6
8 actin filament-based movement GO:0030048 9.46 WAS MYH9
9 platelet aggregation GO:0070527 9.35 P2RY12 MYH9 MPL ITGA2B ACTN1
10 hemostasis GO:0007599 9.1 VWF P2RY12 GP1BB FLI1 F11 ADAMTS13

Molecular functions related to Thrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.92 VWF MYH9 ADAMTS13 ACTN1

Sources for Thrombocytopenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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