MCID: ESS003
MIFTS: 70

Essential Thrombocythemia

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

Aliases & Classifications for Essential Thrombocythemia

MalaCards integrated aliases for Essential Thrombocythemia:

Name: Essential Thrombocythemia 12 50 25 56 29 14
Essential Thrombocytosis 50 25 56
Hemorrhagic Thrombocythemia 12 50
Hereditary Thrombocythemia 12 56
Thrombocythemia, Essential 42 69
Familial Thrombocytosis 12 56
Primary Thrombocythemia 50 25
Primary Thrombocytosis 12 25
Essential Thrombocythaemia 12
Idiopathic Thrombocythemia 50
Thrombocythemia Essential 52
Familial Thrombocythemia 56
Et 56

Characteristics:

Orphanet epidemiological data:

56
essential thrombocythemia
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (United States),1-5/10000 (Sweden); Age of onset: All ages; Age of death: normal life expectancy;
familial thrombocytosis
Inheritance: Autosomal dominant,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



Summaries for Essential Thrombocythemia

NIH Rare Diseases : 50 essential thrombocythemia belongs to a group of conditions called myeloproliferative disorders. myeloproliferative disorders cause platelets, white blood cells and red blood cells to grow abnormally in the bone marrow (the soft tissue inside the hollow part of bones that helps form blood cells). in essential thrombocythemia, the body produces too many platelet cells. the signs and symptoms vary from person to person, with up to two-thirds of patients not having any symptoms when the platelet cell count first increases. signs and symptoms may include significant increased production of megakaryocyte (a cell in the bone marrow that is responsible for making platelets), enlargement of the spleen (splenomegaly), and bleeding and/or clotting episodes. last updated: 12/30/2015

MalaCards based summary : Essential Thrombocythemia, also known as essential thrombocytosis, is related to myeloproliferative neoplasm and budd-chiari syndrome, and has symptoms including dysarthria, headache and splenomegaly. An important gene associated with Essential Thrombocythemia is THPO (Thrombopoietin), and among its related pathways/superpathways are PEDF Induced Signaling and TGF-Beta Pathway. The drugs Anagrelide and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are cellular and hematopoietic system

Genetics Home Reference : 25 Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets.

Disease Ontology : 12 A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.

Wikipedia : 72 Essential thrombocytosis (ET; also known as essential thrombocythemia, essential thrombocythaemia,... more...

Related Diseases for Essential Thrombocythemia

Diseases in the Essential Thrombocythemia family:

Thrombocythemia 2 Thrombocythemia 1
Thrombocythemia 3 Calr-Related Essential Thrombocythemia
Thpo-Related Essential Thrombocythemia

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

(show top 50) (show all 156)
id Related Disease Score Top Affiliating Genes
1 myeloproliferative neoplasm 33.1 MPL PF4 SELP THPO VWF
2 budd-chiari syndrome 31.5 CALR JAK2 MPL
3 myocardial infarction 31.1 PF4 PPBP SELP THBD VWF
4 angina pectoris 30.7 PPBP SELP THBD VWF
5 hemoglobin c disease 30.5 IFNA1 IFNA2 IL3
6 dilated cardiomyopathy 30.3 EPO IL3 MPL THPO
7 inherited predisposition to essential thrombocythemia 12.0
8 calr-related essential thrombocythemia 12.0
9 thpo-related essential thrombocythemia 12.0
10 thrombocythemia 1 11.3
11 acquired von willebrand syndrome 11.3
12 unna-thost palmoplantar keratoderma 11.0 THBD VWF
13 thrombocythemia 2 11.0
14 inflammatory bowel disease 18 11.0 MPL THPO
15 localized anterior staphyloma 11.0 IFNA1 TP53
16 hypotrichosis, congenital, with juvenile macular dystrophy 11.0 MPL THPO
17 autonomic peripheral neuropathy 11.0 MPL THPO VWF
18 mental depression 11.0 MPL SELP THPO
19 waardenburg's syndrome 10.9 PF4 PPBP THBD
20 thrombocytopenia-absent radius syndrome 10.9 CALR JAK2 MPL THPO
21 acro-pectoro-renal field defect 10.9 JAK2 VWF
22 thrombophilia due to activated protein c resistance 10.9 PF4 THBD VWF
23 fiedler's myocarditis 10.9 SELP THBD VWF
24 male infertility 10.9 IFNA1 IFNA2
25 breast ductal adenoma 10.9 IFNA1 IFNA2
26 ube2t-related fanconi anemia 10.9 SELP VWF
27 temporal lobe epilepsy 10.9 IFNA2 JAK2 TET2
28 retromolar area cancer 10.9 MPL SELP THPO VWF
29 partial sensory epilepsy 10.9 MPL THBD THPO VWF
30 hereditary thrombocytosis with transverse limb defect 10.9
31 thrombocytopenia, congenital amegakaryocytic 10.9 IL3 MPL THPO
32 poems syndrome 10.8 EPO TET2 THPO
33 polycythemia 10.8
34 kowarski syndrome 10.8 JAK2 STAT5A STAT5B
35 nephrolithiasis 10.8 ASXL1 JAK2 TET2
36 thumb stiff brachydactyly mental retardation 10.8 PPBP SELP THBD VWF
37 tracheal cancer 10.8 MPL PF4 THBD THPO
38 thrombocytopenic purpura, autoimmune 10.8 IFNA2 MPL SELP THPO
39 primary cutaneous peripheral t-cell lymphoma not otherwise specified 10.8 ASXL1 TET2
40 chronic venous leg ulcers 10.8 ASXL1 JAK2 TET2
41 charcot-marie-tooth disease, type 4c 10.8 EPO TET2
42 goodpasture syndrome 10.8 IFNA1 IFNA2 JAK2 THBD
43 blood coagulation disease 10.8 EPO MPL THPO
44 bone remodeling disease 10.8 JAK2 PF4 SELP THBD VWF
45 giant papillary conjunctivitis 10.7 JAK2 THBD VWF
46 acrofrontofacionasal dysostosis 10.7 PF4 PPBP SELP VWF
47 split hand/foot malformation x-linked 10.7 EPO IFNA2 JAK2 MPL
48 pontocerebellar hypoplasia type 2b 10.7 EPO IL3 JAK2
49 methemoglobinemia 10.7 EPO IL3 JAK2
50 ocular hyperemia 10.7 JAK2 MPL PF4 THBD THPO VWF

Graphical network of the top 20 diseases related to Essential Thrombocythemia:



Diseases related to Essential Thrombocythemia

Symptoms & Phenotypes for Essential Thrombocythemia

Human phenotypes related to Essential Thrombocythemia:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001260
2 headache 56 32 frequent (33%) Frequent (79-30%) HP:0002315
3 splenomegaly 56 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001744
4 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 syncope 56 32 occasional (7.5%) Occasional (29-5%) HP:0001279
6 venous thrombosis 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004936
7 vertigo 56 32 occasional (7.5%) Occasional (29-5%) HP:0002321
8 weight loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0001824
9 hyperhidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000975
10 pruritus 56 32 frequent (33%) Frequent (79-30%) HP:0000989
11 myocardial infarction 56 32 hallmark (90%) Very frequent (99-80%) HP:0001658
12 myelofibrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0011974
13 chest pain 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0100749
14 arterial thrombosis 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004420
15 prolonged bleeding time 56 32 hallmark (90%) Very frequent (99-80%) HP:0003010
16 abnormal bleeding 56 32 hallmark (90%) Very frequent (99-80%) HP:0001892
17 visual field defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001123
18 myelodysplasia 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002863
19 thrombocytosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001894
20 transient ischemic attack 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002326
21 paresthesia 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003401
22 chronic myelogenous leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0005506
23 acute myeloid leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0004808
24 amaurosis fugax 56 32 hallmark (90%) Very frequent (99-80%) HP:0100576
25 acute leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002488
26 abnormal platelet morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0011875
27 spontaneous abortion 56 32 occasional (7.5%) Occasional (29-5%) HP:0005268
28 increased megakaryocyte count 56 32 hallmark (90%) Very frequent (99-80%) HP:0005513
29 pulmonary hypertension 56 Occasional (29-5%)
30 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
31 cerebral ischemia 56 Frequent (79-30%)
32 abnormality of the cerebral vasculature 56 Very frequent (99-80%)
33 abnormality of thrombocytes 56 Very frequent (99-80%)
34 abnormality of bone marrow cell morphology 56 Very frequent (99-80%)
35 occlusive vascular disease 56 Frequent (79-30%)
36 peripheral artery occlusive disease 32 frequent (33%) HP:0005315

MGI Mouse Phenotypes related to Essential Thrombocythemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 ASXL1 CALR EPO JAK2 MPL SELP
2 hematopoietic system MP:0005397 10.13 SELP SH2B3 STAT5A STAT5B TET2 THBD
3 homeostasis/metabolism MP:0005376 9.97 ASXL1 CALR EPO JAK2 MPL PF4
4 immune system MP:0005387 9.8 ASXL1 CD177 EPO JAK2 MPL SELP
5 liver/biliary system MP:0005370 9.28 TET2 THBD TP53 ASXL1 EPO JAK2

Drugs & Therapeutics for Essential Thrombocythemia

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

(show top 50) (show all 259)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anagrelide Approved Phase 4,Phase 3,Phase 2 68475-42-3 2182
2
Hydroxyurea Approved Phase 4,Phase 3,Phase 2 127-07-1 3657
3
Benzocaine Approved Phase 4,Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
4
Zinc Approved Phase 4 7440-66-6 32051 23994
5 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2
6
Lactitol Investigational Phase 4,Phase 2,Phase 3 585-86-4 3871
7 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
8 Fibrinolytic Agents Phase 4,Phase 3,Phase 2
9 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2
10
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
11
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
12
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
14
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
15
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
16
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
17
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
18
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
19
Ondansetron Approved Phase 3,Phase 1,Phase 2 99614-02-5 4595
20
Dalteparin Approved Phase 3 9005-49-6
21
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
22
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
23
Guaifenesin Approved, Vet_approved Phase 3 93-14-1 3516
24
Morphine Approved, Investigational Phase 3 57-27-2 5288826
25
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
26
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
27 Pomalidomide Approved Phase 3,Phase 1,Phase 2 19171-19-8
28
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
29
Melphalan Approved Phase 2, Phase 3, Phase 1 148-82-3 4053 460612
30 Thiotepa Approved Phase 2, Phase 3,Phase 1 52-24-4 5453
31
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
32
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
33
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
34
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
35 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
36 Analgesics Phase 3,Phase 2,Phase 1
37 Anesthetics Phase 3
38 Anesthetics, Dissociative Phase 3
39 Anesthetics, General Phase 3
40 Anesthetics, Intravenous Phase 3
41 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
42 Excitatory Amino Acid Antagonists Phase 3
43 Excitatory Amino Acids Phase 3
44 Neurotransmitter Agents Phase 3,Phase 2
45 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
46 Anti-Bacterial Agents Phase 3,Phase 1,Phase 2
47 Dermatologic Agents Phase 3,Phase 2,Phase 1
48 Antirheumatic Agents Phase 3,Phase 2,Phase 1
49 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
50 Alkylating Agents Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 234)

id Name Status NCT ID Phase Drugs
1 Exploratory Phase II Study of INC424 Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4 INC424
2 A Study of Anagrelide and Hydroxyurea in High-Risk Essential Thrombocythemia Patients Completed NCT00202644 Phase 4 Anagrelide;Hydroxyurea
3 Anagre Cap. in Patients With High-Risk Essential Thrombocythemia Recruiting NCT03232177 Phase 4 Anagre Cap.
4 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4 Ruxolitinib
5 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
6 Anagrelide Retard in Essential Thrombocythemia Completed NCT02076815 Phase 3 Anagrelide retard;Thromboreductin
7 Anagrelide Retard vs. Placebo: Efficacy and Safety in "At-risk" Patients With Essential Thrombocythaemia Completed NCT01230775 Phase 3 Anagrelide retard;Placebo
8 Anagrelide vs. Hydroxyurea - Efficacy and Tolerability Study in Patients With Essential Thrombocythaemia Completed NCT01065038 Phase 3 Anagrelide;Hydroxyurea
9 Long-term Safety of SPD422 in Japanese Adults With Essential Thrombocythaemia Completed NCT01467661 Phase 3 SPD422 (anagrelide hydrochloride)
10 A Clinical Study of Ruxolitinib in Patients With Primary Myelofibrosis (PM), Post-polycythemia Vera (PV) Myelofibrosis, or Post-essential Thrombocythemia (ET) Myelofibrosis Completed NCT02087059 Phase 3 Ruxolitinib
11 Effect of SPD422 on Platelet Lowering and Safety in Japanese Adults With At Risk Essential Thrombocythaemia Completed NCT01214915 Phase 3 Anagrelide Hydrochloride
12 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
13 Controlled Myelofibrosis Study With Oral Janus-associated Kinase (JAK) Inhibitor Treatment-II: The COMFORT-II Trial Completed NCT00934544 Phase 3 INC424/INCB018424;Best Available Therapy (BAT)
14 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3 SAR302503;Placebo
15 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
16 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
17 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
18 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
19 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
20 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
21 Dalteparin to Prevent Complications in Cancer Patients Receiving Chemotherapy Through a Catheter Completed NCT00006083 Phase 3 Fragmin
22 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
23 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
24 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
25 Hydroxyurea Versus Aspirin and Hydroxyurea in Essential Thrombocythemia Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
26 The Ruxo-BEAT Trial in Patients With High-risk Polycythemia Vera or High-risk Essential Thrombocythemia Recruiting NCT02577926 Phase 3 Ruxolitinib;BAT
27 The Ruxolitinib Versus Best Available Therapy Trial in Patients With High Risk ET in Second Line Recruiting NCT02962388 Phase 2, Phase 3 Anagrelide;Ruxolitinib (JAKAVI®);IFNα/ PegIFNα
28 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Active, not recruiting NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
29 Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis (MF), Post-polycythemia Vera MF, or Post-essential Thrombocythemia MF Active, not recruiting NCT02101268 Phase 3 Momelotinib;Best Available Therapy (BAT)
30 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
31 A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms Active, not recruiting NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
32 Phase-3 Double-Blind, Placebo-Controlled Study of Pomalidomide in Persons With Myeloproliferative-Neoplasm-Associated Myelofibrosis and RBC-Transfusion-Dependence Myelofibrosis and RBC-Transfusion-Dependence Active, not recruiting NCT01178281 Phase 3 Pomalidomide 0.5 mg;Placebo
33 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
34 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
35 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
36 A Study of the Efficacy of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
37 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2 LBH589
38 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2 CEP-701 (Lestaurtinib)
39 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2 PEGASYS;Aspirin
40 The Pharmacokinetics of Anagrelide in Elderly and Young Patients With Essential Thrombocythaemia (ET) Completed NCT00413634 Phase 2 anagrelide hydrochloride
41 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2 Imetelstat
42 Safety Study Evaluating Twice-Daily Administration of Momelotinib in Primary Myelofibrosis or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis Completed NCT01423058 Phase 1, Phase 2 Momelotinib
43 Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT00935987 Phase 1, Phase 2 CYT387
44 Extension Study Evaluating the Long Term Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT01236638 Phase 2 Momelotinib
45 Open Label Ruxolitinib (INCB018424) in Patients With Myelofibrosis and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis Completed NCT00509899 Phase 1, Phase 2 Ruxolitinib
46 Efficacy and Safety of Simtuzumab in Adults With Primary, Post Polycythemia Vera or Post Essential Thrombocythemia Myelofibrosis Completed NCT01369498 Phase 2 Simtuzumab;Ruxolitinib
47 Study With SAR302503 in Patients With Polycythemia Vera or Essential Thrombocythemia Completed NCT01420783 Phase 2 SAR302503
48 Open-Label Study of Oral CEP-701 (Lestaurtinib) in Patients With Polycythemia Vera or Essential Thrombocytosis Completed NCT00586651 Phase 2 lestaurtinib
49 Alternative Dosing Strategy of Ruxolitinib in Patients With Myelofibrosis Completed NCT01445769 Phase 2 Ruxolitinib
50 Momelotinib in Transfusion-Dependent Adults With Primary Myelofibrosis (PMF) or Post-polycythemia Vera or Post-essential Thrombocythemia Myelofibrosis (Post-PV/ET MF) Completed NCT02515630 Phase 2 MMB

Search NIH Clinical Center for Essential Thrombocythemia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: thrombocythemia, essential

Genetic Tests for Essential Thrombocythemia

Genetic tests related to Essential Thrombocythemia:

id Genetic test Affiliating Genes
1 Essential Thrombocythemia 29

Anatomical Context for Essential Thrombocythemia

MalaCards organs/tissues related to Essential Thrombocythemia:

39
Bone, Bone Marrow, Myeloid, Spleen, Liver, Endothelial, T Cells

Publications for Essential Thrombocythemia

Articles related to Essential Thrombocythemia:

(show top 50) (show all 790)
id Title Authors Year
1
Genomics of clonal evolution in a case of essential thrombocythemia. ( 28604261 )
2018
2
A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia. ( 28587547 )
2018
3
A phase 1 study of the Janus kinase 2 (JAK2)(V617F) inhibitor, gandotinib (LY2784544), in patients with primary myelofibrosis, polycythemia vera, and essential thrombocythemia. ( 28934680 )
2017
4
Ruxolitinib for essential thrombocythemia refractory to or intolerant of hydroxyurea: long-term phase 2 study results. ( 28827411 )
2017
5
Are Antiplatelet Agents Beneficial in Essential Thrombocythemia? Maybe Yes, Probably No. ( 28654952 )
2017
6
Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia. ( 28450924 )
2017
7
Acute transmural myocardial infarction by coronary embolism in a patient with JAK2 V617F-positive essential thrombocythemia. ( 28692109 )
2017
8
Hemorrhage and Infarction of the Conjunctiva and Orbit in Essential Thrombocythemia. ( 28328595 )
2017
9
Peripheral circulatory disorders in essential thrombocythemia. ( 28495449 )
2017
10
Calreticulin in Essential Thrombocythemia: StressINg OUT the Megakaryocyte Nucleus. ( 28589084 )
2017
11
Acquired RhD mosaicism identifies fibrotic transformation of thrombopoietin receptor-mutated essential thrombocythemia. ( 28653329 )
2017
12
Risk of venous thromboembolism in pregnant women with essential thrombocythemia: a systematic review and meta-analysis. ( 28049641 )
2017
13
Gender and survival in essential thrombocythemia: A two-center study of 1,494 patients. ( 28795425 )
2017
14
Generation of human iPSCs from an essential thrombocythemia patient carrying a V501L mutation in the MPL gene. ( 28395806 )
2017
15
Application of current prognostic models for primary myelofibrosis in the setting of post-polycythemia vera or post-essential thrombocythemia myelofibrosis. ( 28819279 )
2017
16
Putti MC, Pizzi M, Bertozzi I, et al. Bone marrow histology for the diagnosis of essential thrombocythemia in children: a multicenter Italian study. Blood. 2017;129(22):3040-3042. ( 28818981 )
2017
17
Drug-induced interstitial pneumonitis in essential thrombocythemia treated with anagrelide. ( 28321088 )
2017
18
Benefits and Risks of Antithrombotic Therapy in Essential Thrombocythemia: A Systematic Review. ( 28632284 )
2017
19
Successful management of intraperitoneal bleeding with platelet apheresis and von Willebrand factor supplementation in a patient with essential thrombocythemia and acquired von Willebrand syndrome. ( 28883275 )
2017
20
The prognostic relevance of serum lactate dehydrogenase and mild bone marrow reticulin fibrosis in essential thrombocythemia. ( 28211153 )
2017
21
Medical Management of Extensive Arterial Thromboembolism in a Patient with Essential Thrombocythemia and Warfarin Failure. ( 28259826 )
2017
22
A phase 2 study of momelotinib, a potent JAK1 and JAK2 inhibitor, in patients with polycythemia vera or essential thrombocythemia. ( 28622623 )
2017
23
Essential thrombocythemia: a review of the clinical features, diagnostic challenges, and treatment modalities in the era of molecular discovery. ( 28503969 )
2017
24
Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management. ( 27991718 )
2017
25
Clinical impact of bone marrow morphology for the diagnosis of essential thrombocythemia: comparison between the BCSH and the WHO criteria. ( 28248312 )
2017
26
Efficacy of interferon-alpha in essential thrombocythemia during pregnancy. ( 28194492 )
2017
27
European LeukemiaNet study on the reproducibility of bone marrow features in masked polycythemia vera and differentiation from essential thrombocythemia. ( 28685840 )
2017
28
Dissecating aneurysm of extracranial internal carotid artery presenting with Tapia syndrome in patient with essential thrombocythemia. ( 28601975 )
2017
29
Increased B cell activation is present in JAK2V617F-mutated, CALR-mutated and triple-negative essential thrombocythemia. ( 28415571 )
2017
30
Assessing the thrombotic risk of patients with essential thrombocythemia in the genomic Era. ( 28529308 )
2017
31
Essential thrombocythemia presenting as acute coronary syndrome: case reports and literature review. ( 28285408 )
2017
32
Efficacy and safety of anagrelide in childhood essential thrombocythemia. ( 28707720 )
2017
33
Immune Thrombocytopenia and JAK2V617F Positive Essential Thrombocythemia: Literature Review and Case Report. ( 28808591 )
2017
34
A novel germ-line mutation of c-mpl gene in a sporadic case of essential thrombocythemia. ( 28391042 )
2017
35
High platelet count at diagnosis is a protective factor for thrombosis in patients with essential thrombocythemia. ( 28662484 )
2017
36
Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia. ( 27855276 )
2017
37
Bone marrow histology for the diagnosis of essential thrombocythemia in children: a multi-center Italian study. ( 28408463 )
2017
38
Differences in Hematological and Clinical Features Between Essential Thrombocythemia Cases With JAK2- or CALR-Mutations. ( 28029004 )
2017
39
A Novel Approach to Essential Thrombocythemia and Cardiac Surgery. ( 28219560 )
2017
40
Patients with post-essential thrombocythemia and post-polycythemia vera differ from patients with primary myelofibrosis. ( 28601551 )
2017
41
Driver mutations (JAK2V617F, MPLW515L/K or CALR), pentraxin-3 and C-reactive protein in essential thrombocythemia and polycythemia vera. ( 28228104 )
2017
42
Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. ( 27684959 )
2017
43
A Case of Anagrelide-Induced Nonischemic Cardiomyopathy in a Patient With Essential Thrombocythemia. ( 28343445 )
2017
44
Observational retrospective study of vascular modulator changes during treatment in essential thrombocythemia. ( 28259616 )
2017
45
Sequential Analysis of 18 Genes in Polycythemia Vera and Essential Thrombocythemia Reveals an Association between Mutational Status and Clinical Outcome. ( 27997717 )
2016
46
Efficacy and safety of JAK inhibitor INC424 in patients with primary and post-polycythemia vera or post-essential thrombocythemia myelofibrosis in the Chinese population. ( 27858230 )
2016
47
Treatment of essential thrombocythemia. ( 27856474 )
2016
48
Impact of JAK2V617F Mutation Burden on Disease Phenotype in Chinese Patients with JAK2V617F-positive Polycythemia Vera (PV) and Essential thrombocythemia (ET). ( 26917989 )
2016
49
JAK2, MPL, and CALR mutations in children with essential thrombocythemia. ( 27209416 )
2016
50
Coexistence of Essential Thrombocythemia, Iron-Refractory Iron Deficiency Anemia and Renal Cell Carcinoma. ( 27103977 )
2016

Variations for Essential Thrombocythemia

ClinVar genetic disease variations for Essential Thrombocythemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 THPO THPO, IVS3, G-C, +1 single nucleotide variant Pathogenic
2 THPO THPO, 1-BP DEL, 3252G deletion Pathogenic
3 THPO THPO, 516G-T single nucleotide variant Pathogenic
4 MPL NM_005373.2(MPL): c.117G> T (p.Lys39Asn) single nucleotide variant risk factor rs17292650 GRCh37 Chromosome 1, 43803807: 43803807
5 MPL NM_005373.2(MPL): c.1514G> A (p.Ser505Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913614 GRCh37 Chromosome 1, 43814979: 43814979
6 SH2B3 NM_005475.2(SH2B3): c.622G> C (p.Glu208Gln) single nucleotide variant Pathogenic rs202080221 GRCh37 Chromosome 12, 111856571: 111856571
7 CALR NM_004343.3(CALR): c.1092_1143del52 (p.Leu367Thrfs) deletion Pathogenic GRCh37 Chromosome 19, 13054565: 13054616
8 ATG2B NC_000014.9: g.95696766_96390792dup694027 duplication Likely pathogenic GRCh37 Chromosome 14, 96163103: 96857129

Expression for Essential Thrombocythemia

Search GEO for disease gene expression data for Essential Thrombocythemia.

Pathways for Essential Thrombocythemia

Pathways related to Essential Thrombocythemia according to GeneCards Suite gene sharing:

(show all 40)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 EPO IFNA1 IFNA2 IL3 JAK2 MPL
2
Show member pathways
13.43 EPO IFNA1 IFNA2 IL3 JAK2 MPL
3
Show member pathways
13.38 IL3 JAK2 PF4 PPBP STAT5A STAT5B
4
Show member pathways
13.32 IFNA1 IFNA2 IL3 JAK2 STAT5A STAT5B
5
Show member pathways
12.88 CD177 IFNA1 IFNA2 IL3 JAK2 MPL
6
Show member pathways
12.83 CALR JAK2 PF4 PPBP STAT5A STAT5B
7
Show member pathways
12.74 JAK2 MPL STAT5A STAT5B THPO
8
Show member pathways
12.74 IFNA1 IFNA2 JAK2 STAT5A STAT5B TP53
9 12.64 EPO IFNA1 IFNA2 IL3 JAK2 TP53
10 12.47 IFNA1 IL3 JAK2 MPL STAT5A STAT5B
11 12.38 CALR STAT5A STAT5B TP53
12
Show member pathways
12.35 JAK2 STAT5A STAT5B TP53
13
Show member pathways
12.29 IL3 JAK2 STAT5A STAT5B
14
Show member pathways
12.26 IFNA1 IFNA2 JAK2 STAT5A STAT5B
15
Show member pathways
12.2 CD177 PF4 SELP THBD
16
Show member pathways
12.13 CD177 PF4 THBD VWF
17 12.1 IFNA1 IFNA2 JAK2 SH2B3 TP53
18
Show member pathways
12.01 EPO IL3 JAK2 SH2B3 STAT5A STAT5B
19
Show member pathways
11.91 IL3 JAK2 STAT5A STAT5B
20
Show member pathways
11.89 JAK2 STAT5A STAT5B
21
Show member pathways
11.86 JAK2 STAT5A STAT5B
22 11.86 JAK2 STAT5A STAT5B THBD
23
Show member pathways
11.85 MPL THPO VWF
24 11.84 EPO IL3 THPO
25
Show member pathways
11.82 EPO JAK2 SH2B3 STAT5A STAT5B
26 11.8 EPO IFNA2 IL3 MPL SH2B3 THPO
27 11.75 STAT5A STAT5B TP53
28 11.71 JAK2 STAT5A STAT5B
29 11.64 JAK2 STAT5A STAT5B
30 11.64 EPO IFNA1 IFNA2 IL3 JAK2 STAT5A
31 11.62 JAK2 SELP STAT5A STAT5B
32 11.51 JAK2 STAT5A STAT5B
33
Show member pathways
11.51 EPO IFNA1 IFNA2 IL3 JAK2 MPL
34 11.49 EPO IL3 STAT5A
35
Show member pathways
11.41 JAK2 STAT5A STAT5B
36 11.39 JAK2 STAT5A STAT5B
37
Show member pathways
11.36 JAK2 STAT5A STAT5B
38 11.24 JAK2 MPL STAT5A STAT5B THPO
39
Show member pathways
11.13 JAK2 SELP STAT5A STAT5B
40 10.99 JAK2 STAT5A STAT5B

GO Terms for Essential Thrombocythemia

Cellular components related to Essential Thrombocythemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 CALR EPO IFNA1 IFNA2 IL3 PF4
2 extracellular space GO:0005615 9.32 CALR EPO IFNA1 IFNA2 IL3 PF4
3 platelet alpha granule lumen GO:0031093 9.13 PF4 PPBP VWF

Biological processes related to Essential Thrombocythemia according to GeneCards Suite gene sharing:

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.86 IL3 JAK2 STAT5A STAT5B
2 defense response GO:0006952 9.81 IFNA1 IFNA2 PF4 PPBP
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 IL3 JAK2 TP53
4 platelet degranulation GO:0002576 9.76 PF4 PPBP SELP VWF
5 positive regulation of DNA replication GO:0045740 9.7 CALR EPO IL3
6 response to lipopolysaccharide GO:0032496 9.63 EPO JAK2 PF4 PPBP SELP THBD
7 embryonic hemopoiesis GO:0035162 9.62 IL3 SH2B3
8 oxaloacetate metabolic process GO:0006107 9.6 STAT5A STAT5B
9 creatine metabolic process GO:0006600 9.59 STAT5A STAT5B
10 negative regulation of retinoic acid receptor signaling pathway GO:0048387 9.58 ASXL1 CALR
11 succinate metabolic process GO:0006105 9.58 STAT5A STAT5B
12 citrate metabolic process GO:0006101 9.57 STAT5A STAT5B
13 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.56 EPO IFNA2 IL3 JAK2
14 taurine metabolic process GO:0019530 9.55 STAT5A STAT5B
15 valine metabolic process GO:0006573 9.54 STAT5A STAT5B
16 JAK-STAT cascade GO:0007259 9.54 JAK2 STAT5A STAT5B
17 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.5 JAK2 STAT5A STAT5B
18 blood coagulation GO:0007596 9.5 CD177 IFNA1 IFNA2 JAK2 SH2B3 THBD
19 creatinine metabolic process GO:0046449 9.49 STAT5A STAT5B
20 isoleucine metabolic process GO:0006549 9.48 STAT5A STAT5B
21 allantoin metabolic process GO:0000255 9.43 STAT5A STAT5B
22 thrombopoietin-mediated signaling pathway GO:0038163 9.4 MPL THPO
23 cytokine-mediated signaling pathway GO:0019221 9.17 IFNA1 IFNA2 IL3 JAK2 MPL PF4
24 positive regulation of cell proliferation GO:0008284 10.01 CALR EPO IL3 JAK2 STAT5B

Molecular functions related to Essential Thrombocythemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.33 CALR TP53 VWF
2 protein tyrosine kinase activity GO:0004713 9.26 IL3 JAK2 STAT5A STAT5B
3 cytokine activity GO:0005125 9.1 IFNA1 IFNA2 IL3 PF4 PPBP THPO

Sources for Essential Thrombocythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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