MCID: THR014
MIFTS: 65

Thrombocytopenia

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Thrombocytopenia

Summaries for Thrombocytopenia

PubMed Health : 63 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.

MalaCards based summary: Thrombocytopenia, also known as platelet dysfunction nos, is related to thrombocytopenia due to platelet alloimmunization and amegakaryocytic thrombocytopenia, congenital. An important gene associated with Thrombocytopenia is WAS (WASP Actin Nucleation Promoting Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and NF-kappaB Signaling. The drugs Certoparin and Amoxicillin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and liver, and related phenotypes are homeostasis/metabolism and cellular

Disease Ontology: 11 A blood platelet disease that is characterized by low a platelet count in the blood.

Wikipedia: 75 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 1922)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia due to platelet alloimmunization 34.0 VWF THPO MPL ITGA2B ANKRD26 ADAMTS13
2 amegakaryocytic thrombocytopenia, congenital 33.9 THPO SLFN14 NBEAL2 MYH9 MPL ITGA2B
3 thrombocytopenia-absent radius syndrome 33.8 THPO NBEAL2 MPL GP1BB ANKRD26
4 thrombocytopenia 1 33.5 WAS THPO
5 thrombocytopenic purpura, autoimmune 33.5 THPO MPL ITGA2B ADAMTS13
6 acquired thrombocytopenia 33.3 THPO NBEAL2 MYH9 MPL ITGA2B GP1BB
7 fetal and neonatal alloimmune thrombocytopenia 33.2 ITGA2B GP1BB
8 myh-9 related disease 33.2 SLFN14 NBEAL2 MYH9 MPL GP1BB GFI1B
9 platelet disorder, familial, with associated myeloid malignancy 33.1 RUNX1 ETV6 ANKRD26
10 bernard-soulier syndrome 33.0 VWF THPO SLFN14 SEPT5-GP1BB P2RY12 NBEAL2
11 jacobsen syndrome 32.9 NBEAL2 GP1BB GFI1B FLI1
12 evans' syndrome 32.9 THPO MPL ADAMTS13
13 primary thrombocytopenia 32.9 VWF THPO MPL ITGA2B ADAMTS13
14 blood platelet disease 32.8 WAS VWF THPO RUNX1 P2RY12 NBEAL2
15 bleeding disorder, platelet-type, 17 32.8 NBEAL2 GFI1B
16 purpura 32.7 VWF THPO MPL ITGA2B ADAMTS13
17 stormorken syndrome 32.6 SLFN14 NBEAL2 GP1BB ANKRD26
18 ankrd26-related thrombocytopenia 32.6 MYH9 ANKRD26
19 gray platelet syndrome 32.6 VWF NBEAL2 ITGA2B GFI1B
20 dyskeratosis congenita, autosomal dominant 6 32.6 THPO MPL
21 leukemia, acute myeloid 32.5 THPO RUNX1 MPL ITGA2B GFI1B ETV6
22 pseudo-von willebrand disease 32.4 VWF NBEAL2 GP1BB ANKRD26
23 myeloproliferative syndrome, transient 32.4 THPO MPL ITGA2B
24 deficiency anemia 32.3 VWF THPO MPL GBA1 ADAMTS13
25 glanzmann thrombasthenia 1 32.3 VWF P2RY12 NBEAL2 MYH9 ITGA2B GP1BB
26 autosomal dominant macrothrombocytopenia 32.3 ITGA2B GP1BB GFI1B ACTN1
27 thrombosis 32.2 VWF P2RY12 MPL ITGA2B ADAMTS13
28 von willebrand disease, type 2 31.9 VWF ADAMTS13
29 bleeding disorder, platelet-type, 11 31.9 VWF P2RY12 ITGA2B
30 thrombocytosis 31.8 VWF THPO MPL
31 myelofibrosis 31.8 THPO RUNX1 MPL ETV6
32 pancytopenia 31.7 THPO RUNX1 MPL GBA1
33 essential thrombocythemia 31.7 VWF THPO MPL ITGA2B ETV6
34 qualitative platelet defect 31.7 VWF THPO ITGA2B ANKRD26
35 von willebrand's disease 31.7 VWF ITGA2B GP1BB ADAMTS13
36 splenic sequestration 31.7 VWF THPO MPL ITGA2B ADAMTS13
37 hemorrhagic disease 31.6 VWF THPO P2RY12 ITGA2B GBA1 ADAMTS13
38 hematologic cancer 31.5 THPO RUNX1 MPL ETV6
39 portal vein thrombosis 31.5 VWF THPO MPL
40 acute leukemia 31.5 THPO RUNX1 MPL ETV6
41 myeloproliferative neoplasm 31.5 VWF THPO RUNX1 MPL ETV6
42 polycythemia vera 31.3 VWF THPO MPL ETV6
43 thrombocythemia 1 31.2 THPO MPL
44 intermediate coronary syndrome 31.1 VWF P2RY12 ITGA2B
45 severe congenital neutropenia 30.9 WAS THPO RUNX1 GFI1B ANKRD26
46 radioulnar synostosis 30.9 NBEAL2 MPL GFI1B ANKRD26
47 chronic myelomonocytic leukemia 30.8 RUNX1 MPL ETV6
48 coronary thrombosis 30.8 VWF P2RY12 ITGA2B
49 acute erythroid leukemia 30.8 ITGA2B GFI1B FLI1
50 acute megakaryocytic leukemia 30.7 THPO RUNX1 MPL ITGA2B

Graphical network of the top 20 diseases related to Thrombocytopenia:



Diseases related to Thrombocytopenia

Symptoms & Phenotypes for Thrombocytopenia

MGI Mouse Phenotypes related to Thrombocytopenia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ADAMTS13 ANKRD26 ETV6 GBA1 GFI1B GP1BB
2 cellular MP:0005384 10 ETV6 FLI1 GBA1 GFI1B ITGA2B MPL
3 cardiovascular system MP:0005385 9.85 ANKRD26 ETV6 FLI1 GBA1 GFI1B ITGA2B
4 immune system MP:0005387 9.8 ADAMTS13 ETV6 FLI1 GBA1 GFI1B ITGA2B
5 hematopoietic system MP:0005397 9.53 ADAMTS13 ETV6 FLI1 GBA1 GFI1B GP1BB

Drugs & Therapeutics for Thrombocytopenia

PubMed Health treatment related to Thrombocytopenia: 63

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 315)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Certoparin Approved, Investigational Phase 4
2
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
3
Clarithromycin Approved Phase 4 81103-11-9 84029
4
Hydroxychloroquine Approved Phase 4 118-42-3 3652
5
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
6
Oprelvekin Approved, Investigational Phase 4 145941-26-0
7
Glycyrrhizic acid Approved, Experimental Phase 4 1405-86-3 3495 14982
8
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
9
Dimethyl sulfoxide Approved, Vet_approved Phase 4 67-68-5 679
10
Desirudin Approved Phase 4 120993-53-5 16129703
11
Ribavirin Approved Phase 4 36791-04-5 37542
12
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
13
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 5280453
14
3,4-Dihydroxycinnamic Acid Experimental, Investigational Phase 4 331-39-5, 501-16-6 689043
15
Maleic acid Experimental, Investigational Phase 4 110-16-7, 110-17-8 444266 444972
16
Enoxolone Investigational Phase 4 471-53-4 3230 18526330 10114
17 Immunoglobulins Phase 4
18 Antibodies Phase 4
19 Calciferol Phase 4
20 Tin Fluorides Phase 4
21 Vasoconstrictor Agents Phase 4
22 Antiprotozoal Agents Phase 4
23 Antiparasitic Agents Phase 4
24 Antimalarials Phase 4
25 Pharmaceutical Solutions Phase 4
26 Antimitotic Agents Phase 4
27 Tubulin Modulators Phase 4
28 Immunologic Factors Phase 4
29 Anti-Infective Agents Phase 4
30 Autoantibodies Phase 4
31 Mitogens Phase 4
32 Interferon alpha-2 Phase 4
33 Interferon-alpha Phase 4
34 Antioxidants Phase 4
35 Protective Agents Phase 4
36 Liver Extracts Phase 4
37 Immunoglobulins, Intravenous Phase 4
38 gamma-Globulins Phase 4
39 Rho(D) Immune Globulin Phase 4
40 interferons Phase 4
41
bilirubin Phase 4 635-65-4 5280352
42
Dapsone Approved, Investigational Phase 3 80-08-0 2955
43
Oseltamivir Approved Phase 3 204255-11-8, 196618-13-0 65028
44
Warfarin Approved Phase 3 81-81-2, 129-06-6 54678486
45
Hydrocortisone succinate Approved Phase 3 2203-97-6 3643
46
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
47
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 3640 5754
48
Pantoprazole Approved Phase 3 102625-70-7, 138786-67-1 4679
49
Metronidazole Approved Phase 3 443-48-1, 69198-10-3 4173
50
Selenium Approved, Investigational, Vet_approved Phase 2, Phase 3 7783-07-5, 7782-49-2 533

Interventional clinical trials:

(show top 50) (show all 616)
# Name Status NCT ID Phase Drugs
1 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
2 Efficacy of Eltrombopag in Chronic Immune Thrombocytopenia in Pediatrics Unknown status NCT04102033 Phase 4 Eltrombopag
3 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 Unknown status NCT03771378 Phase 4 rhTPO;eltrombopag
4 Rate of Prolonged Response After Stopping Thrombopoietin-receptor Agonists Treatment in Immune Thrombocytopenia: a Prospective Multicenter Open Study Unknown status NCT03119974 Phase 4 Tpo-RA discontinuation
5 High-dose Use of Recombinant Human Thrombopoietin in Patients With Moderate or Severe Thrombocytopenia Induced by Chemotherapy Unknown status NCT03633019 Phase 4 rhTPO
6 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)
7 A Multicenter Randomized Open-label Clinical Trial of Vitamin D Combined With HD-DXM Versus HD-DXM for the Treatment of ITP Unknown status NCT04094805 Phase 4 Rocaltrol;Dexamethasone
8 Effects of Helicobacter Pylori Eradication Therapy in Children With Chronic Immune Thrombocytopenic Purpura Unknown status 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
9 A Multicenter, Randomized, Open-label Study To Compare The Efficacy And Safety Of Eltrombopag Combining Rituximab With Eltrombopag In Adult ITP Patients Unknown status NCT04518475 Phase 4 eltrombopag combining rituximab;eltrombopag
10 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
11 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
12 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
13 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
14 Thrombopoietin-receptor Agonist-immunomodulation in Young Adult Primary Immune Thrombocytopenia (ITP): A Multi-center Open Label Trial With Romiplostim Completed NCT02760251 Phase 4 romiplostim
15 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
16 The Clinical Randomized Controlled Study of Different Dose Rituximab in the Treatment of Primary Immune Thrombocytopenia Completed NCT03258866 Phase 4 Rituximab
17 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)
18 Effect of Treatment Using rhIL-11 in Patients With Thrombocytopenia After Chemotherapy for Childhood Acute Lymphoblastic Leukemia Completed NCT02314273 Phase 4 rhIL-11
19 Reposition of Second Line Treatment in Chronic Immune Thrombocytopenia Completed NCT03229746 Phase 4 Hydroxychloroquine;vincristine;azathioprine
20 Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin Completed NCT00039858 Phase 4 Argatroban
21 Evaluation of the Efficacy of Platelets Treated With Pathogen Reduction Process Completed NCT01789762 Phase 4
22 Study 200170: A Rollover Study to Provide Continued Treatment With Eltrombopag Completed NCT01957176 Phase 4 ELT
23 Evaluate the Efficacy and Safety of Various Treatment Schemes for Severe Fever With Thrombocytopenia Syndrome:a Prospective, Multicenter, Non-randomized Controlled Intervention Study Recruiting NCT05604859 Phase 4 Methylprednisolone;intravenous immunoglobulin;Tocilizumab;Low molecular weight heparin
24 An Exploring Single Arm Study on the Efficacy and Safety of Herombopag Olamine in the Treatment of Thrombocytopenia After Chemotherapy in Malignant Tumors of the Digestive System Recruiting NCT05575986 Phase 4 Hetrombopag Olamine
25 Short-course High-dose Prednisone and Dexamethasone in Children With Immune A Multicenter, Randomized Controlled Study of Thrombocytopenia Recruiting NCT05522465 Phase 4 Prednisone;Dexamethasone
26 Post-Marketing Study to Evaluate the Efficacy and Safety of PANZYGA in Pediatric Patients With Chronic Immune Thrombocytopenia (ITP) Recruiting NCT03866798 Phase 4
27 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
28 A Multicenter, Randomized Controlled Study of Two Regimens of Intravenous Immune Globulin in the Treatment of Newly Diagnosed Immune Thrombocytopenia in Children Recruiting NCT05520892 Phase 4 intravenous immunoglobulin
29 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
30 Efficacy and Safety of Eltrombopag Combined With Low-dose Rituximab in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies Fail to First-line Treatment: a Prospective, Open-label, Nonrandomized, Multicenter Clinical Trial Recruiting NCT04915482 Phase 4 Combined use of eltrombopag with low-dose rituximab;The best available therapy
31 The Efficacy and Safety of Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia: A Multicenter, Prospective, Randomized Controlled Trial(EAST) Recruiting NCT04906083 Phase 4 Avatrombopag;Standard medical treatment
32 STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis Recruiting NCT05255003 Phase 4
33 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
34 A Multicenter Randomized Controlled Study to Assess the Efficacy and Safety of rhTPO's Prophylactic Treatment of Cancer Treatment-induced Thrombocytopenia in Patients With High Risk of Treatment-induced Cardiac Injury Recruiting NCT05411705 Phase 4 rhTPO;Control
35 Efficacy and Safety of Avatrombopag for Treating Thrombocytopenia in Hepatitis b Virus Related Acute-on-chronic Liver Failure Patients Receiving Artificial Liver Support System Treatment Recruiting NCT05382013 Phase 4 Avatrombopag
36 Efficacy and Safety of Avatrombopag in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies Fail to Eltrombopag or Herombopag Treatment: a Single-center, Prospective, One-arm Clinical Trial Recruiting NCT04993885 Phase 4 Avatrombopag
37 A Prospective, Single-center Clinical Trial of Pegylated Interferon Alfa-2b Versus Interferon Alfa Therapy in the Treatment of Childhood and Adolescent Essential Thrombocythemia Recruiting NCT04226950 Phase 4 Recombinant Interferon Alpha;Pegylated interferon alfa-2b
38 Efficacy of Avatrombopag in Thrombocytopenic Patients With Chronic Liver Disease Undergoing an Elective Procedure: A Prospective Non-randomized Controlled Trial Recruiting NCT04915287 Phase 4 Avatrombopag maleate;Medicine
39 A Prospective, Multicenter, Randomized Controlled Clinical Trial of Pegylated Interferon Alfa-2b Versus Interferon Alfa Therapy in the Treatment of Adult Essential Thrombocythemia Recruiting NCT05395507 Phase 4 Recombinant Interferon Alpha;Pegylated interferon alfa-2b
40 Comparing the Efficacy and Safety of Optimized rhTPO Treatment Versus Eltrombopag Treatment in Previously Treated Primary Immune Thrombocytopenia Patients: A Multicenter Randomized Open-label Trial Not yet recruiting NCT05583838 Phase 4 rhTPO;Eltrombopag
41 Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients With Pneumonia With Thrombocytopenia: a Multicenter, Single-blind, Randomized Controlled Study Not yet recruiting NCT05217719 Phase 4 recombinant human thrombopoietin;normal saline
42 Efficacy and Safety of TPO Receptor Agonists as First-line Drugs in the Treatment of Newly Diagnosed Elderly ITP Patients in China-an Open Label Study Not yet recruiting NCT05311930 Phase 4 2.5mg/d Hetrombopag
43 Treatment With Avatrombopaq in Patients With Cirrhosis Undergoing Small Invasive Procedure: A Prospective Case Series Not yet recruiting NCT04845659 Phase 4 Doptelet Pill
44 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
45 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®
46 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
47 Thromboprophylaxis With Fondaparinux of Deep Vein Thrombosis and Pulmonary Embolism in the Acutely-ill Medical Inpatients With Thrombocytopenia Terminated NCT01727401 Phase 4 Fondaparinux
48 Argatroban Versus Lepirudin in Critically Ill Patients - A Randomized Double-blind Trial Terminated NCT00798525 Phase 4 Argatroban;Lepirudin
49 Bivalirudin PCI Registry in HIT/HITTS Patients Withdrawn NCT00759083 Phase 4 bivalirudin
50 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)

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 28

Anatomical Context for Thrombocytopenia

Organs/tissues related to Thrombocytopenia:

MalaCards : Bone Marrow, Bone, Liver, Myeloid, Lung, Spleen, T Cells

Publications for Thrombocytopenia

Articles related to Thrombocytopenia:

(show top 50) (show all 32845)
# Title Authors PMID Year
1
Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia. 62 5
27885891 2017
2
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 62 5
25581430 2015
3
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
4
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. 5
32098966 2020
5
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 5
31064749 2019
6
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants. 5
29987015 2018
7
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 5
18723428 2008
8
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. 53 62
20175767 2010
9
Fructose-1,6-bisphosphate inhibits in vitro and ex vivo platelet aggregation induced by ADP and ameliorates coagulation alterations in experimental sepsis in rats. 53 62
19705256 2010
10
The prothrombotic potential of platelet factor 4. 53 62
20206875 2010
11
RUNX1/core binding factor A2 regulates platelet 12-lipoxygenase gene (ALOX12): studies in human RUNX1 haplodeficiency. 53 62
20181616 2010
12
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 53 62
20174760 2010
13
Posttransplantation calcineurin inhibitor-induced hemolytic uremic syndrome: single-center experience. 53 62
20430179 2010
14
Proteinase-activated receptor (PAR1) polymorphic variant correlates with thrombocytopenia in Gaucher disease. 53 62
19969492 2010
15
A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers. 53 62
19740526 2010
16
A phase I/II trial of enzastaurin in patients with recurrent high-grade gliomas. 53 62
20150385 2010
17
Serum thrombopoietin level and thrombocytopenia during the neonatal period in infants with Down's syndrome. 53 62
19675574 2010
18
Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation. 53 62
19679353 2010
19
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. 53 62
19709391 2010
20
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. 53 62
19847791 2010
21
Alteration of serum thrombopoietin levels in patients with chronic hepatitis C under interferon therapy. 53 62
20203368 2010
22
Heparin-induced thrombocytopenia. 53 62
20059332 2010
23
Eltrombopag (Promacta), a thrombopoietin receptor agonist for the treatment of thrombocytopenia: current and future considerations. 53 62
19451811 2010
24
Infectious causes of chronic immune thrombocytopenia. 53 62
19932434 2009
25
Perspectives on RUNX genes: an update. 53 62
19830829 2009
26
Heparin induced thrombocytopenia in a patient with factor V Leiden following cardiac surgery. 53 62
19783545 2009
27
Ex vivo expansion of human hematopoietic stem cells by a small-molecule agonist of c-MPL. 53 62
19744539 2009
28
An outbreak of Crimean-Congo hemorrhagic fever in western Anatolia, Turkey. 53 62
19409826 2009
29
[Two Crimean-Congo hemorrhagic fever cases without history of tick contact from Ankara region]. 53 62
20084924 2009
30
Intracranial hemorrhage in dengue fever: management and outcome: a series of 5 cases and review of literature. 53 62
19328535 2009
31
Hemostatic changes in Vietnamese children with mild dengue correlate with the severity of vascular leakage rather than bleeding. 53 62
19815879 2009
32
Prospective study of Chikungunya virus acute infection in the Island of La Réunion during the 2005-2006 outbreak. 53 62
19893613 2009
33
Hereditary thrombocytopenia and acute myeloid leukemia: a common link due to a germline mutation in the AML1 gene. 53 62
19337732 2009
34
Evaluation of bone marrow reticulin formation in chronic immune thrombocytopenia patients treated with romiplostim. 53 62
19671919 2009
35
Platelet function and the von Willebrand factor antigen in the hepatosplenic form of schistosomiasis mansoni. 53 62
19118853 2009
36
Thrombopoietin receptor agonists in the treatment of thrombocytopenia. 53 62
19553811 2009
37
Treatment of autoimmune thrombocytopenia in a case of chronic hepatitis C with ursodeoxycholic acid. 53 62
19801810 2009
38
Argatroban dosage requirements and outcomes in intensive care versus non-intensive care patients. 53 62
19698012 2009
39
Comparative analyses of the small molecule thrombopoietin receptor agonist eltrombopag and thrombopoietin on in vitro platelet function. 53 62
19631713 2009
40
Immune mechanisms in heparin-induced thrombocytopenia: no evidence for immunoglobulin M anti-idiotype antibodies. 53 62
19497062 2009
41
Therapeutic benefits of partial splenic embolization for thrombocytopenia in hepatocellular carcinoma patients treated with radiofrequency ablation. 53 62
19473438 2009
42
Thrombopoietin agonists for the treatment of thrombocytopenia in liver disease and hepatitis C. 53 62
19628164 2009
43
The new tyrosine-kinase inhibitor and anticancer drug dasatinib reversibly affects platelet activation in vitro and in vivo. 53 62
19494352 2009
44
Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. 53 62
19572073 2009
45
Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. 53 62
19351959 2009
46
Association of genetic polymorphisms with interferon-induced haematologic adverse effects in chronic hepatitis C patients. 53 62
19200137 2009
47
Heparin induced thrombocytopenia and thrombosis in a tertiary care hospital. 53 62
19195684 2009
48
Mutational inhibition of c-Myb or p300 ameliorates treatment-induced thrombocytopenia. 53 62
19252138 2009
49
Effectiveness of combination therapy of splenectomy and long-term interferon in patients with hepatitis C virus-related cirrhosis and thrombocytopenia. 53 62
19207581 2009
50
Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. 53 62
19336737 2009

Variations for Thrombocytopenia

ClinVar genetic disease variations for Thrombocytopenia:

5 (show top 50) (show all 363)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ETV6 NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) SNV Pathogenic
Pathogenic
190241 rs786205155 GRCh37: 12:12037415-12037415
GRCh38: 12:11884481-11884481
2 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.143C>A (p.Ser48Ter) SNV Pathogenic
627237 rs536874549 GRCh37: 22:19711509-19711509
GRCh38: 22:19723986-19723986
3 RUNX1 NC_000021.9:g.34791392_34804065del DEL Pathogenic
812915 GRCh37: 21:36163689-36176362
GRCh38:
4 RUNX1 NM_001754.5(RUNX1):c.508+1G>T SNV Pathogenic
988808 rs1601515718 GRCh37: 21:36252853-36252853
GRCh38: 21:34880556-34880556
5 RUNX1 NM_001754.5(RUNX1):c.98-1G>A SNV Pathogenic
988809 rs2058006300 GRCh37: 21:36259394-36259394
GRCh38: 21:34887097-34887097
6 SLFN14 NM_001129820.2(SLFN14):c.3_4insCTAGTCGACTATA (p.Glu2fs) INSERT Pathogenic
988815 rs2072671208 GRCh37: 17:33885078-33885079
GRCh38: 17:35558059-35558060
7 GFI1B NM_001377304.1(GFI1B):c.814+1G>A SNV Pathogenic
988821 rs1849228141 GRCh37: 9:135865295-135865295
GRCh38: 9:132989908-132989908
8 ITGA2B NM_000419.5(ITGA2B):c.2176A>T (p.Lys726Ter) SNV Pathogenic
988822 rs2048557402 GRCh37: 17:42455077-42455077
GRCh38: 17:44377709-44377709
9 NBEAL2 NM_015175.3(NBEAL2):c.6801+1G>C SNV Pathogenic
988824 rs1285731171 GRCh37: 3:47047338-47047338
GRCh38: 3:47005848-47005848
10 FLI1 NM_002017.5(FLI1):c.992_995del (p.Asn331fs) DEL Pathogenic
Likely Pathogenic
424634 rs1064797085 GRCh37: 11:128680515-128680518
GRCh38: 11:128810620-128810623
11 ETV6 NM_001987.5(ETV6):c.1288C>T (p.Arg430Ter) SNV Pathogenic
988827 rs1437274494 GRCh37: 12:12043909-12043909
GRCh38: 12:11890975-11890975
12 ADAMTS13 NM_139027.6(ADAMTS13):c.1315G>T (p.Glu439Ter) SNV Pathogenic
988818 rs748223519 GRCh37: 9:136301955-136301955
GRCh38: 9:133436835-133436835
13 RUNX1 NM_001754.5(RUNX1):c.351+1G>T SNV Pathogenic
988837 rs1060502579 GRCh37: 21:36259139-36259139
GRCh38: 21:34886842-34886842
14 RUNX1 NM_001754.5(RUNX1):c.165dup (p.Leu56fs) DUP Pathogenic
1013619 rs2058004321 GRCh37: 21:36259325-36259326
GRCh38: 21:34887028-34887029
15 TPP2 NM_001330588.2(TPP2):c.2394-550_2952+659del DEL Pathogenic
995805 GRCh37: 13:103298090-103302491
GRCh38: 13:102645740-102650141
16 ANKRD26 NM_014915.3(ANKRD26):c.-128G>A SNV Pathogenic
812727 rs1589393809 GRCh37: 10:27389383-27389383
GRCh38: 10:27100454-27100454
17 overlap with 3 genes NC_000021.8:g.36323351_37470324del DEL Pathogenic
812918 GRCh37: 21:36323351-37470324
GRCh38:
18 THPO NM_000460.4(THPO):c.825del (p.Ser276fs) DEL Pathogenic
1684405 GRCh37: 3:184090538-184090538
GRCh38: 3:184372750-184372750
19 RUNX1 NC_000021.8:g.36284364_37074805del DEL Pathogenic
812916 GRCh37: 21:36284364-37074805
GRCh38:
20 ANKRD26 NM_014915.3(ANKRD26):c.-126T>C SNV Pathogenic
626941 rs1589393792 GRCh37: 10:27389381-27389381
GRCh38: 10:27100452-27100452
21 RUNX1 NM_001754.5(RUNX1):c.351+1G>A SNV Pathogenic
561236 rs1060502579 GRCh37: 21:36259139-36259139
GRCh38: 21:34886842-34886842
22 RUNX1 NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter) SNV Pathogenic
988835 rs2057998110 GRCh37: 21:36259174-36259174
GRCh38: 21:34886877-34886877
23 MED12L, P2RY12 NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr) SNV Pathogenic
988856 rs202099742 GRCh37: 3:151055862-151055862
GRCh38: 3:151338074-151338074
24 WAS NM_000377.3(WAS):c.802del (p.Arg268fs) DEL Pathogenic
1684406 GRCh37: X:48546713-48546713
GRCh38: X:48688324-48688324
25 VWF NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) SNV Pathogenic
100467 rs61751286 GRCh37: 12:6085324-6085324
GRCh38: 12:5976158-5976158
26 MYH9 NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) SNV Pathogenic
14082 rs80338831 GRCh37: 22:36688106-36688106
GRCh38: 22:36292060-36292060
27 overlap with 4 genes GRCh37/hg19 15q11.2(chr15:22765628-23300287) CN LOSS Pathogenic
523249 GRCh37: 15:22765628-23300287
GRCh38:
28 ITGA2B NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) SNV Pathogenic
50233 rs766503255 GRCh37: 17:42449776-42449776
GRCh38: 17:44372408-44372408
29 WAS NM_000377.3(WAS):c.134C>T (p.Thr45Met) SNV Pathogenic
11123 rs132630273 GRCh37: X:48542673-48542673
GRCh38: X:48684284-48684284
30 MPL NM_005373.3(MPL):c.305G>C (p.Arg102Pro) SNV Pathogenic
14158 rs28928907 GRCh37: 1:43804305-43804305
GRCh38: 1:43338634-43338634
31 LOC106627981, GBA1 NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) SNV Pathogenic
4327 rs121908311 GRCh37: 1:155205614-155205614
GRCh38: 1:155235823-155235823
32 MYH9 NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) SNV Pathogenic
14072 rs80338835 GRCh37: 22:36678800-36678800
GRCh38: 22:36282754-36282754
33 SMAD4 NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAA INSERT Pathogenic
988858 rs771084683 GRCh37: 18:48584827-48584828
GRCh38: 18:51058457-51058458
34 F11 NM_000128.4(F11):c.403G>T (p.Glu135Ter) SNV Pathogenic
11891 rs121965063 GRCh37: 4:187195347-187195347
GRCh38: 4:186274193-186274193
35 ETV6 NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys) SNV Pathogenic
162220 rs724159945 GRCh37: 12:12038902-12038902
GRCh38: 12:11885968-11885968
36 ETV6 NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln) SNV Pathogenic
162221 rs724159946 GRCh37: 12:12037475-12037475
GRCh38: 12:11884541-11884541
37 ETV6 NM_001987.4(ETV6):c.1153-5_1153-1del MICROSAT Pathogenic
Pathogenic
190240 GRCh37: 12:12038855-12038859
GRCh38: 12:11885921-11885925
38 VWF NM_000552.5(VWF):c.2516del (p.Gly839fs) DEL Pathogenic
100225 rs61748481 GRCh37: 12:6145584-6145584
GRCh38: 12:6036418-6036418
39 VWF NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) SNV Pathogenic
100307 rs267607337 GRCh37: 12:6128653-6128653
GRCh38: 12:6019487-6019487
40 LOC106627981, GBA1 NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) SNV Pathogenic
632834 rs867929413 GRCh37: 1:155208033-155208033
GRCh38: 1:155238242-155238242
41 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs) DEL Pathogenic
128042 rs555607708 GRCh37: 22:29091857-29091857
GRCh38: 22:28695869-28695869
42 MYH9 NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) SNV Pathogenic
14074 rs80338829 GRCh37: 22:36691115-36691115
GRCh38: 22:36295069-36295069
43 ACTN1 NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp) SNV Pathogenic
626995 rs747559032 GRCh37: 14:69392359-69392359
GRCh38: 14:68925642-68925642
44 ANKRD26 NM_014915.3(ANKRD26):c.-127A>G SNV Pathogenic
626942 rs1589393799 GRCh37: 10:27389382-27389382
GRCh38: 10:27100453-27100453
45 ANKRD26 NM_014915.3(ANKRD26):c.-128G>C SNV Likely Pathogenic
626920 rs1589393809 GRCh37: 10:27389383-27389383
GRCh38: 10:27100454-27100454
46 ETV6 NM_001987.5(ETV6):c.1105C>T (p.Arg369Trp) SNV Likely Pathogenic
626971 rs1591749480 GRCh37: 12:12037474-12037474
GRCh38: 12:11884540-11884540
47 ANKRD26 NM_014915.3(ANKRD26):c.-119C>G SNV Likely Pathogenic
434210 rs1554800065 GRCh37: 10:27389374-27389374
GRCh38: 10:27100445-27100445
48 SLFN14 NM_001129820.2(SLFN14):c.657A>T (p.Lys219Asn) SNV Likely Pathogenic
225534 rs869320715 GRCh37: 17:33884425-33884425
GRCh38: 17:35557406-35557406
49 MYH9 NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly) SNV Likely Pathogenic
523453 rs867593888 GRCh37: 22:36688105-36688105
GRCh38: 22:36292059-36292059
50 RUNX1 NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala) SNV Likely Pathogenic
988811 rs2057541324 GRCh37: 21:36231798-36231798
GRCh38: 21:34859501-34859501

Expression for Thrombocytopenia

Search GEO for disease gene expression data for Thrombocytopenia.

Pathways for Thrombocytopenia

GO Terms for Thrombocytopenia

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

# Name GO ID Score Top Affiliating Genes
1 hematopoietic stem cell proliferation GO:0071425 9.88 RUNX1 GBA1 ETV6
2 megakaryocyte development GO:0035855 9.85 THPO GP1BB FLI1
3 platelet formation GO:0030220 9.8 NBEAL2 MYH9 ACTN1
4 platelet aggregation GO:0070527 9.8 ACTN1 MPL MYH9 P2RY12
5 thrombopoietin-mediated signaling pathway GO:0038163 9.73 THPO MPL
6 blood coagulation GO:0007596 9.7 WAS VWF P2RY12 GP1BB ADAMTS13
7 platelet activation GO:0030168 9.61 VWF P2RY12 GP1BB ADAMTS13 ACTN1
8 hemostasis GO:0007599 9.23 VWF P2RY12 GP1BB FLI1 ADAMTS13

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.32 VWF MYH9 ITGA2B ADAMTS13 ACTN1

Sources for Thrombocytopenia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....