MCID: ESS003
MIFTS: 71

Essential Thrombocythemia

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

Aliases & Classifications for Essential Thrombocythemia

MalaCards integrated aliases for Essential Thrombocythemia:

Name: Essential Thrombocythemia 12 72 49 24 55 28 14
Essential Thrombocytosis 49 24 55 36
Hemorrhagic Thrombocythemia 12 49
Hereditary Thrombocythemia 12 55
Thrombocythemia, Essential 41 69
Familial Thrombocytosis 12 55
Primary Thrombocythemia 49 24
Primary Thrombocytosis 12 24
Essential Thrombocythaemia 12
Idiopathic Thrombocythemia 49
Thrombocythemia Essential 51
Familial Thrombocythemia 55
Et 55

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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, but most people with essential thrombocythemia do not have any symptoms when the platelet cell count first increases. The main signs and symptoms include:Increased production of megakaryocytes (a type of cell in the bone marrow that is responsible for making platelets) Enlargement of the spleen (splenomegaly), and  Bleeding in several parts of the body and/or clotting episodes such as strokes, pain in the legs  and difficulty breathing. Other symptoms may include weakness, headaches, or burning, tingling or prickling sensations in the skin. Some people have episodes of severe pain, redness, and swelling, especially in the hands and feet. Essential thrombocythemia is caused by mutations in the JAK2 (most frequently) and CALR genes, and rarely, the disease is caused by mutations in the MPL, THPO, and TET2 genes.  Treatment may include medication such as hydroxyurea, anagrelide, or interferon-alpha.  Most people with the disease can live long lives.  In very rare cases, essential  thrombocythemia can transform into either primary myelofibrosis or acute myeloid leukemia. Last updated: 11/24/2017

MalaCards based summary : Essential Thrombocythemia, also known as essential thrombocytosis, is related to acquired von willebrand syndrome and thrombocythemia 1, and has symptoms including myocardial infarction, splenomegaly and transient ischemic attack. 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

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.

Genetics Home Reference : 24 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.

Wikipedia : 72 Essential thrombocythemia (ET) is a rare chronic blood condition characterised by the overproduction of... more...

Related Diseases for Essential Thrombocythemia

Diseases in the Essential Thrombocythemia family:

Thrombocythemia 1 Thrombocythemia 2
Thrombocythemia 3

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

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 acquired von willebrand syndrome 33.0 JAK2 VWF
2 thrombocythemia 1 32.7 CALR MPL SH2B3 THPO
3 myeloproliferative neoplasm 32.0 ABL1 CALR JAK2 MPL SH2B3 STAT5B
4 thrombosis 31.7 JAK2 PF4 SELP THBD VWF
5 polycythemia 31.6 CALR CD177 EPO IL3 JAK2 MPL
6 budd-chiari syndrome 31.2 CALR JAK2 MPL
7 myocardial infarction 31.0 PF4 PPBP SELP THBD VWF
8 thrombocytosis 30.8 EPO IL3 JAK2 MPL SELP TET2
9 thrombocytopenia 30.8 MPL PF4 THBD THPO
10 purpura 30.7 MPL THBD THPO VWF
11 splenomegaly 30.7 EPO IFNA2 JAK2 MPL
12 stroke, ischemic 30.7 PF4 PPBP SELP THBD VWF
13 thrombophilia 30.6 JAK2 PF4 PPBP THBD VWF
14 thrombocytopenia due to platelet alloimmunization 30.6 MPL SELP THPO
15 systemic mastocytosis 30.5 IFNA2 JAK2 TET2
16 thrombotic thrombocytopenic purpura 30.5 SELP THBD VWF
17 hairy cell leukemia 30.5 IFNA1 IFNA2 IL3
18 chronic myelomonocytic leukemia 30.4 ASXL1 JAK2 TET2
19 polycythemia vera 30.2 ABL1 ASXL1 CALR CD177 EPO IFNA1
20 megakaryocytic leukemia 30.2 IL3 JAK2 PF4 THPO TP53
21 refractory anemia 30.2 ASXL1 EPO IL3 JAK2 MPL TET2
22 myelofibrosis 30.0 ASXL1 CALR CD177 EPO IFNA1 IFNA2
23 leukemia, acute myeloid 29.9 ABL1 ASXL1 IL3 JAK2 MPL STAT5B
24 leukemia, chronic myeloid 29.8 ABL1 CD177 EPO IFNA1 IFNA2 IL3
25 myelodysplastic syndrome 29.6 ABL1 ASXL1 EPO IL3 JAK2 MPL
26 aplastic anemia 29.6 ASXL1 EPO IL3 MPL TET2 THPO
27 inherited predisposition to essential thrombocythemia 12.3
28 thrombocythemia with distal limb defects 11.0
29 unilateral absence of a pulmonary artery 10.7 THBD VWF
30 plantar wart 10.7 IFNA1 TP53
31 thrombocytopenia 3 10.7 MPL THPO
32 dyskeratosis congenita, autosomal dominant 6 10.7 MPL THPO
33 autoimmune disease of blood 10.7 MPL THPO VWF
34 platelet aggregation, spontaneous 10.6 PF4 SELP VWF
35 thrombocytopenia-absent radius syndrome 10.6 CALR JAK2 MPL THPO
36 thrombophilia due to activated protein c resistance 10.6 PF4 THBD VWF
37 lymphomatoid granulomatosis 10.6 IFNA1 IFNA2
38 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.6
39 squamous papillomatosis 10.6 IFNA1 IFNA2
40 portal hypertension 10.6 JAK2 THPO VWF
41 primary thrombocytopenia 10.6 MPL SELP THPO VWF
42 amegakaryocytic thrombocytopenia, congenital 10.6 IL3 MPL THPO
43 folic acid deficiency anemia 10.6 EPO TET2 THPO
44 thrombocytopenic purpura, autoimmune 10.5 IFNA2 MPL SELP THPO
45 myelodysplastic myeloproliferative cancer 10.5 ASXL1 JAK2 TET2
46 peripheral vascular disease 10.5 PPBP SELP THBD VWF
47 cellular neurofibroma 10.5 ABL1 TP53
48 behcet syndrome 10.5 IFNA1 IFNA2 JAK2 THBD
49 al amyloidosis 10.5 IL3 VWF
50 pancytopenia 10.5 EPO MPL THPO

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:

55 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myocardial infarction 55 31 hallmark (90%) Very frequent (99-80%) HP:0001658
2 splenomegaly 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001744
3 transient ischemic attack 55 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002326
4 acute leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002488
5 myelodysplasia 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002863
6 prolonged bleeding time 55 31 hallmark (90%) Very frequent (99-80%) HP:0003010
7 paresthesia 55 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003401
8 arterial thrombosis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004420
9 increased megakaryocyte count 55 31 hallmark (90%) Very frequent (99-80%) HP:0005513
10 abnormal platelet morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0011875
11 myelofibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0011974
12 amaurosis fugax 55 31 hallmark (90%) Very frequent (99-80%) HP:0100576
13 chest pain 55 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0100749
14 venous thrombosis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004936
15 hyperhidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000975
16 pruritus 55 31 frequent (33%) Frequent (79-30%) HP:0000989
17 visual field defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001123
18 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
19 dysarthria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001260
20 syncope 55 31 occasional (7.5%) Occasional (29-5%) HP:0001279
21 weight loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0001824
22 abnormal bleeding 55 31 hallmark (90%) Very frequent (99-80%) HP:0001892
23 thrombocytosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001894
24 pulmonary arterial hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0002092
25 headache 55 31 frequent (33%) Frequent (79-30%) HP:0002315
26 vertigo 55 31 occasional (7.5%) Occasional (29-5%) HP:0002321
27 acute myeloid leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0004808
28 spontaneous abortion 55 31 occasional (7.5%) Occasional (29-5%) HP:0005268
29 chronic myelogenous leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0005506
30 abnormality of thrombocytes 55 Very frequent (99-80%)
31 abnormality of bone marrow cell morphology 55 Very frequent (99-80%)
32 abnormality of the cerebral vasculature 55 Very frequent (99-80%)
33 cerebral ischemia 55 Frequent (79-30%)
34 occlusive vascular disease 55 Frequent (79-30%)
35 peripheral arterial stenosis 31 frequent (33%) HP:0004950

MGI Mouse Phenotypes related to Essential Thrombocythemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 ABL1 SELP ASXL1 SH2B3 CALR STAT5B
2 hematopoietic system MP:0005397 10.13 ASXL1 SH2B3 STAT5B CD177 EPO TET2
3 homeostasis/metabolism MP:0005376 9.97 ABL1 SELP ASXL1 CALR STAT5B EPO
4 immune system MP:0005387 9.8 SELP ASXL1 SH2B3 STAT5B CD177 EPO
5 liver/biliary system MP:0005370 9.28 ABL1 SELP ASXL1 STAT5B EPO TET2

Drugs & Therapeutics for Essential Thrombocythemia

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

(show top 50) (show all 256)
# 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, Investigational Phase 4,Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
4
Zinc Approved, Investigational 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 2, Phase 3,Phase 1 55-98-1 2478
12
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 38904 498142
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
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
16
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
18
Dalteparin Approved Phase 3 9005-49-6
19
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
20
Ondansetron Approved Phase 3,Phase 1,Phase 2 99614-02-5 4595
21
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
22
Caspofungin Approved Phase 3,Phase 2 162808-62-0, 179463-17-3 2826718 468682
23
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
24
Dextromethorphan Approved Phase 3 125-71-3 5362449 5360696
25
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
26
Morphine Approved, Investigational Phase 3 57-27-2 5288826
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 460612 4053
30 Thiotepa Approved, Investigational 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 215647-85-1, 99210-65-8
34
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
35
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
36 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
37 Analgesics Phase 3,Phase 2,Phase 1
38 Anesthetics Phase 3
39 Anesthetics, Dissociative Phase 3
40 Anesthetics, General Phase 3
41 Anesthetics, Intravenous Phase 3
42 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
43 Excitatory Amino Acid Antagonists Phase 3
44 Excitatory Amino Acids Phase 3
45 Neurotransmitter Agents Phase 3,Phase 2
46 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
47 Anti-Infective Agents Phase 3,Phase 2,Phase 1
48 Antirheumatic Agents Phase 3,Phase 2,Phase 1
49 Dermatologic Agents Phase 3,Phase 2,Phase 1
50 Anti-Bacterial Agents Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 236)

# 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 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
8 Anagrelide Retard vs. Placebo: Efficacy and Safety in "At-risk" Patients With Essential Thrombocythaemia Completed NCT01230775 Phase 3 Anagrelide retard;Placebo
9 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
10 Anagrelide vs. Hydroxyurea - Efficacy and Tolerability Study in Patients With Essential Thrombocythaemia Completed NCT01065038 Phase 3 Anagrelide;Hydroxyurea
11 Long-term Safety of SPD422 in Japanese Adults With Essential Thrombocythaemia Completed NCT01467661 Phase 3 SPD422 (anagrelide hydrochloride)
12 INC424 for Patients With Primary Myelofibrosis, Post Polycythemia Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis. Completed NCT01493414 Phase 3 INC424
13 Effect of SPD422 on Platelet Lowering and Safety in Japanese Adults With At Risk Essential Thrombocythaemia Completed NCT01214915 Phase 3 Anagrelide Hydrochloride
14 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
15 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)
16 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3 SAR302503;Placebo
17 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
18 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
19 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
20 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
21 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
22 Dalteparin to Prevent Complications in Cancer Patients Receiving Chemotherapy Through a Catheter Completed NCT00006083 Phase 3 Fragmin
23 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
24 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
25 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
26 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
27 Hydroxyurea Versus Aspirin and Hydroxyurea in Essential Thrombocythemia Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
28 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
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 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
42 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2 Imetelstat
43 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
44 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
45 Efficacy and Safety of Simtuzumab in Adults With Primary, Post Polycythemia Vera or Post Essential Thrombocythemia Myelofibrosis Completed NCT01369498 Phase 2 Simtuzumab;Ruxolitinib
46 Open Label Ruxolitinib (INCB018424) in Patients With Myelofibrosis and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis Completed NCT00509899 Phase 1, Phase 2 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 47 :


Cochrane evidence based reviews: thrombocythemia, essential

Genetic Tests for Essential Thrombocythemia

Genetic tests related to Essential Thrombocythemia:

# Genetic test Affiliating Genes
1 Essential Thrombocythemia 28 CALR SH2B3 THPO

Anatomical Context for Essential Thrombocythemia

MalaCards organs/tissues related to Essential Thrombocythemia:

38
Bone, Bone Marrow, Myeloid, Spleen, Skin, Liver, Endothelial

Publications for Essential Thrombocythemia

Articles related to Essential Thrombocythemia:

(show top 50) (show all 812)
# Title Authors Year
1
Prognostic risk model for patients with high-risk polycythemia vera and essential thrombocythemia. ( 29313725 )
2018
2
Phosphatidylserine-exposing blood and endothelial cells contribute to the hypercoagulable state in essential thrombocythemia patients. ( 29332224 )
2018
3
Selected Parameters of Angiogenesis and the JAK2, CALR, and MPL Mutations in Patients With Essential Thrombocythemia. ( 29390868 )
2018
4
A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia. ( 28587547 )
2018
5
Essential thrombocythemia treatment algorithm 2018. ( 29321520 )
2018
6
Genomics of clonal evolution in a case of essential thrombocythemia. ( 28604261 )
2018
7
Chronic recurrent pulmonary thromboembolism in a patient with essential thrombocythemia, complicating acute right ventricular infarct. ( 29318735 )
2018
8
The 2014 BCSH criteria and the 2016 WHO criteria for essential thrombocythemia: a comparison in a large-scale cohort. ( 29405428 )
2018
9
Distinguishing myelofibrosis from polycythemia vera and essential thrombocythemia: The utility of enumerating circulating stem cells with aberrant hMICL expression by flow cytometry. ( 29427319 )
2018
10
A rare CALR variant mutation and a review of CALR in essential thrombocythemia. ( 29411299 )
2018
11
Polycythemia vera and essential thrombocythemia: algorithmic approach. ( 29194068 )
2018
12
Non-driver mutations in patients with JAK2V617F-mutated polycythemia vera or essential thrombocythemia with long-term molecular follow-up. ( 29181548 )
2018
13
Ruxolitinib for essential thrombocythemia refractory to or intolerant of hydroxyurea: long-term phase 2 study results. ( 28827411 )
2017
14
Calreticulin in Essential Thrombocythemia: StressINg OUT the Megakaryocyte Nucleus. ( 28589084 )
2017
15
Acute transmural myocardial infarction by coronary embolism in a patient with JAK2 V617F-positive essential thrombocythemia. ( 28692109 )
2017
16
Drug-induced interstitial pneumonitis in essential thrombocythemia treated with anagrelide. ( 28321088 )
2017
17
Essential thrombocythemia: a review of the clinical features, diagnostic challenges, and treatment modalities in the era of molecular discovery. ( 28503969 )
2017
18
Observational retrospective study of vascular modulator changes during treatment in essential thrombocythemia. ( 28259616 )
2017
19
Clinical impact of bone marrow morphology for the diagnosis of essential thrombocythemia: comparison between the BCSH and the WHO criteria. ( 28248312 )
2017
20
Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia. ( 28450924 )
2017
21
Generation of human iPSCs from an essential thrombocythemia patient carrying a V501L mutation in the MPL gene. ( 28395806 )
2017
22
Efficacy and safety of interferon alpha for essential thrombocythemia during pregnancy: two cases and a literature review. ( 29290077 )
2017
23
Are Antiplatelet Agents Beneficial in Essential Thrombocythemia? Maybe Yes, Probably No. ( 28654952 )
2017
24
European LeukemiaNet study on the reproducibility of bone marrow features in masked polycythemia vera and differentiation from essential thrombocythemia. ( 28685840 )
2017
25
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
26
Increased B cell activation is present in JAK2V617F-mutated, CALR-mutated and triple-negative essential thrombocythemia. ( 28415571 )
2017
27
Clinical course and outcome of essential thrombocythemia and prefibrotic myelofibrosis according to the revised WHO 2016 diagnostic criteria. ( 29254200 )
2017
28
Bone marrow histology for the diagnosis of essential thrombocythemia in children: a multi-center Italian study. ( 28408463 )
2017
29
Mutant calreticulin causes essential thrombocythemia. ( 29179429 )
2017
30
B-cell acute lymphoblastic leukemia with +der(1)t(1;19) (p13;p13.1) arising in the setting of CALR exon 9 mutated essential thrombocythemia. ( 29153099 )
2017
31
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
32
A novel germ-line mutation of c-mpl gene in a sporadic case of essential thrombocythemia. ( 28391042 )
2017
33
Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia. ( 27855276 )
2017
34
The prognostic relevance of serum lactate dehydrogenase and mild bone marrow reticulin fibrosis in essential thrombocythemia. ( 28211153 )
2017
35
Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. ( 27684959 )
2017
36
What are the current treatment approaches for patients with polycythemia vera and essential thrombocythemia? ( 29222296 )
2017
37
CALR mutational status identifies different disease subtypes of essential thrombocythemia showing distinct expression profiles. ( 29217833 )
2017
38
Differences in Hematological and Clinical Features Between Essential Thrombocythemia Cases With JAK2- or CALR-Mutations. ( 28029004 )
2017
39
A phase 2 study of momelotinib, a potent JAK1 and JAK2 inhibitor, in patients with polycythemia vera or essential thrombocythemia. ( 28622623 )
2017
40
Gender and survival in essential thrombocythemia: A two-center study of 1,494 patients. ( 28795425 )
2017
41
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
42
Hemorrhage and Infarction of the Conjunctiva and Orbit in Essential Thrombocythemia. ( 28328595 )
2017
43
Application of current prognostic models for primary myelofibrosis in the setting of post-polycythemia vera or post-essential thrombocythemia myelofibrosis. ( 28819279 )
2017
44
Patients with post-essential thrombocythemia and post-polycythemia vera differ from patients with primary myelofibrosis. ( 28601551 )
2017
45
Essential thrombocythemia presenting as acute coronary syndrome: case reports and literature review. ( 28285408 )
2017
46
Histomorphological responses after therapy with pegylated interferon I+-2a in patients with essential thrombocythemia (ET) and polycythemia vera (PV). ( 29152412 )
2017
47
Risk of venous thromboembolism in pregnant women with essential thrombocythemia: a systematic review and meta-analysis. ( 28049641 )
2017
48
Dissecating aneurysm of extracranial internal carotid artery presenting with Tapia syndrome in patient with essential thrombocythemia. ( 28601975 )
2017
49
Ruxolitinib for essential thrombocythemia? ( 29344542 )
2017
50
Acquired RhD mosaicism identifies fibrotic transformation of thrombopoietin receptor-mutated essential thrombocythemia. ( 28653329 )
2017

Variations for Essential Thrombocythemia

ClinVar genetic disease variations for Essential Thrombocythemia:

6
# 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 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 EPO IFNA1 IFNA2 IL3 JAK2 MPL
2
Show member pathways
13.39 EPO IFNA1 IFNA2 IL3 JAK2 MPL
3
Show member pathways
13.27 IFNA1 IFNA2 IL3 JAK2 STAT5B TP53
4
Show member pathways
12.84 EPO IFNA1 IFNA2 IL3 JAK2 TP53
5
Show member pathways
12.78 CALR JAK2 PF4 PPBP STAT5B
6
Show member pathways
12.74 ABL1 CALR IFNA1 IFNA2 IL3
7
Show member pathways
12.69 IFNA1 IFNA2 JAK2 STAT5B TP53
8 12.69 ABL1 EPO IFNA1 IFNA2 IL3 JAK2
9
Show member pathways
12.58 ABL1 CD177 IFNA1 IFNA2 IL3 JAK2
10
Show member pathways
12.46 IFNA1 IFNA2 JAK2 STAT5B TP53
11 12.45 IFNA1 IL3 JAK2 MPL STAT5B
12
Show member pathways
12.2 IFNA1 IFNA2 JAK2 STAT5B
13
Show member pathways
12.13 CD177 PF4 SELP THBD
14
Show member pathways
12.11 IFNA1 IFNA2 JAK2 STAT5B
15
Show member pathways
12.06 CD177 PF4 THBD VWF
16
Show member pathways
12.04 EPO IL3 JAK2 SH2B3 STAT5B
17 11.99 ABL1 IFNA1 IFNA2 JAK2 SH2B3 TP53
18
Show member pathways
11.94 EPO IFNA1 IFNA2 IL3 JAK2 MPL
19 11.8 JAK2 STAT5B THBD
20 11.8 EPO IFNA2 IL3 MPL SH2B3 THPO
21
Show member pathways
11.79 MPL THPO VWF
22 11.78 EPO IL3 THPO
23
Show member pathways
11.78 EPO JAK2 SH2B3 STAT5B
24 11.61 ABL1 EPO IFNA1 IFNA2 IL3 JAK2
25 11.56 JAK2 SELP STAT5B
26 11.19 JAK2 MPL STAT5B THPO
27 11.08 JAK2 SELP STAT5B

GO Terms for Essential Thrombocythemia

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

# 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 19)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.96 ABL1 CD177 IFNA1 IFNA2 JAK2
2 positive regulation of cell proliferation GO:0008284 9.93 CALR EPO IL3 JAK2 STAT5B
3 regulation of cell proliferation GO:0042127 9.83 ABL1 JAK2 PF4 PPBP
4 peptidyl-tyrosine phosphorylation GO:0018108 9.81 ABL1 IL3 JAK2 STAT5B
5 defense response GO:0006952 9.8 IFNA1 IFNA2 PF4 PPBP
6 regulation of receptor activity GO:0010469 9.8 EPO IFNA1 IFNA2 IL3 PF4 PPBP
7 platelet degranulation GO:0002576 9.76 PF4 PPBP SELP VWF
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.67 ABL1 IL3 JAK2 TP53
9 positive regulation of DNA replication GO:0045740 9.65 CALR EPO IL3
10 response to lipopolysaccharide GO:0032496 9.63 EPO JAK2 PF4 PPBP SELP THBD
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.62 EPO IFNA2 IL3 JAK2
12 embryonic hemopoiesis GO:0035162 9.58 IL3 SH2B3
13 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.58 JAK2 STAT5B
14 B cell proliferation GO:0042100 9.58 ABL1 IFNA1 IFNA2
15 positive regulation of leukocyte migration GO:0002687 9.57 SELP TP53
16 negative regulation of cell-cell adhesion GO:0022408 9.55 ABL1 JAK2
17 blood coagulation GO:0007596 9.5 CD177 IFNA1 IFNA2 JAK2 SH2B3 THBD
18 thrombopoietin-mediated signaling pathway GO:0038163 9.43 MPL THPO
19 cytokine-mediated signaling pathway GO:0019221 9.17 IFNA1 IFNA2 IL3 JAK2 MPL PF4

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

# 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 ABL1 IL3 JAK2 STAT5B
3 cytokine activity GO:0005125 9.17 EPO IFNA1 IFNA2 IL3 PF4 PPBP

Sources for Essential Thrombocythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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