ET
MCID: ESS003
MIFTS: 67

Essential Thrombocythemia (ET)

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

Aliases & Classifications for Essential Thrombocythemia

MalaCards integrated aliases for Essential Thrombocythemia:

Name: Essential Thrombocythemia 12 74 52 25 58 29 15 17
Essential Thrombocytosis 52 25 58 36
Hemorrhagic Thrombocythemia 12 52
Hereditary Thrombocythemia 12 58
Thrombocythemia, Essential 43 71
Familial Thrombocytosis 12 58
Primary Thrombocythemia 52 25
Primary Thrombocytosis 12 25
Essential Thrombocythaemia 12
Idiopathic Thrombocythemia 52
Thrombocythemia Essential 54
Familial Thrombocythemia 58
Et 58

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare haematological diseases


Summaries for Essential Thrombocythemia

NIH Rare Diseases : 52 Essential thrombocythemia belongs to a group of diseases called myeloproliferative neoplasms , which cause the bone marrow to make too many platelets , white blood cells and/or red blood cells . In essential thrombocythemia, the body produces too many platelets. 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. Signs and symptoms that develop as the disease progresses 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 a burning, tingling or prickling sensation in the skin. Some people have episodes of severe pain, redness, and swelling (especially in the hands and feet). Essential thrombocythemia may be caused by a person acquiring (not inheriting) a somatic mutation in any of several genes , such as the JAK2 gene (most frequently), CALR gene, and rarely, the MPL , THPO , or TET2 gene. The reason why some people acquire mutations that cause the disease is unknown. Treatment may include low-dose aspirin, hydroxyurea , anagrelide , and/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 .

MalaCards based summary : Essential Thrombocythemia, also known as essential thrombocytosis, is related to thrombocythemia 1 and polycythemia vera. An important gene associated with Essential Thrombocythemia is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are myocardial infarction and abnormal bleeding

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 : 25 Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cells involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets. Abnormal blood clotting (thrombosis) is common in people with essential thrombocythemia and causes many signs and symptoms of this condition. Clots that block blood flow to the brain can cause strokes or temporary stroke-like episodes known as transient ischemic attacks. Thrombosis in the legs can cause leg pain, swelling, or both. In addition, clots can travel to the lungs (pulmonary embolism), blocking blood flow in the lungs and causing chest pain and difficulty breathing (dyspnea). Another problem in essential thrombocythemia is abnormal bleeding, which occurs more often in people with a very high number of platelets. Affected people may have nosebleeds, bleeding gums, or bleeding in the gastrointestinal tract. It is thought that bleeding occurs because a specific protein in the blood that helps with clotting is reduced, although why the protein is reduced is unclear. Other signs and symptoms of essential thrombocythemia include an enlarged spleen (splenomegaly); weakness; headaches; or a sensation in the skin of burning, tingling, or prickling. Some people with essential thrombocythemia have episodes of severe pain, redness, and swelling (erythromelalgia), which commonly occur in the hands and feet.

KEGG : 36 Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms (MPNs), a group of clonal stem cell disorders with similarities at the phenotypic and molecular level. ET is characterized by an isolated thrombocytosis and overlaps clinically with polycythemia vera and primary myelofibrosis (PMF). The V617F mutation in the tyrosine pseudokinase region of the JAK2 gene is found in 50 - 60% of ET patients. This mutation produces an increased tyrosine kinase activity of JAK2, resulting in uncontrolled cellular growth in the hematopoietic compartment. Calreticulin (CALR) or myeloproliferative leukemia virus oncogene (MPL) mutations occur in approximately 25%, and 3% of ET patients, respectively.

Wikipedia : 74 Essential thrombocythemia (ET) is a rare chronic blood cancer (myeloproliferative neoplasm)... 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 439)
# Related Disease Score Top Affiliating Genes
1 thrombocythemia 1 33.5 THPO SH2B3 MPL CALR
2 polycythemia vera 33.0 VWF THPO THBD TET2 STAT5B STAT5A
3 myeloproliferative neoplasm 32.4 VWF THPO TET2 STAT5B STAT5A SH2B3
4 splenomegaly 32.2 MPL JAK2 IFNA2 IFNA1 EPO
5 thrombosis 32.0 VWF THBD SELP PPBP PF4 MPL
6 thrombocytosis 32.0 VWF THPO TET2 STAT5B SELP PPBP
7 erythromelalgia 32.0 THBD PPBP PF4
8 myeloid leukemia 31.9 TP53 TET2 STAT5B STAT5A JAK2 IL3
9 polycythemia 31.7 THPO TET2 STAT5B STAT5A SH2B3 PPBP
10 budd-chiari syndrome 31.6 MPL JAK2 CALR
11 thrombophilia 31.6 VWF THBD SELP PPBP PF4 JAK2
12 acute myocardial infarction 31.6 VWF THBD SELP PPBP PF4
13 platelet aggregation, spontaneous 31.6 VWF SELP PF4
14 von willebrand's disease 31.5 VWF SELP PF4
15 myelodysplastic syndrome 31.5 TP53 THPO TET2 STAT5B STAT5A MPL
16 intermediate coronary syndrome 31.5 VWF SELP PF4
17 stroke, ischemic 31.5 VWF THBD SELP PPBP PF4
18 pulmonary embolism 31.4 VWF THBD PF4
19 myocardial infarction 31.4 VWF TP53 THBD SELP PPBP PF4
20 refractory anemia 31.4 TET2 MPL IL3 EPO
21 portal hypertension 31.4 VWF THPO JAK2
22 portal vein thrombosis 31.4 SELP MPL JAK2 IFNA2 IFNA1 CALR
23 chronic myelomonocytic leukemia 31.3 TP53 TET2 MPL JAK2 CALR
24 purpura 31.3 VWF THPO THBD SELP MPL
25 myeloma, multiple 31.3 TP53 STAT5B STAT5A JAK2 IL3 IFNA1
26 thrombophilia due to activated protein c resistance 31.2 VWF THBD PF4
27 vasculitis 31.2 VWF THBD SELP IFNA2
28 hypereosinophilic syndrome 31.2 STAT5B JAK2 IL3 IFNA2 IFNA1
29 intermittent claudication 31.2 VWF SELP PF4
30 myelodysplastic/myeloproliferative neoplasm 31.2 TET2 STAT5B STAT5A JAK2
31 neutropenia 31.2 THPO MPL IL3 IFNA2 IFNA1 EPO
32 thrombocytopenia 31.2 VWF THPO THBD SELP PPBP PF4
33 megakaryocytic leukemia 31.1 VWF TP53 THPO SELP PF4 JAK2
34 pancytopenia 31.1 TP53 THPO MPL IL3 EPO
35 thrombocytopenia due to platelet alloimmunization 31.1 THPO SELP PF4 MPL
36 raynaud phenomenon 31.1 VWF THBD
37 hemorrhagic disease 31.1 VWF THBD PPBP PF4
38 thrombocytopenic purpura, autoimmune 31.1 THPO SELP MPL IFNA2
39 vascular disease 31.1 VWF TP53 THBD SELP PPBP PF4
40 mastocytosis 31.0 TET2 STAT5B STAT5A JAK2 IL3 IFNA2
41 peripheral vascular disease 31.0 VWF TP53 THBD SELP PPBP PF4
42 systemic mastocytosis 30.9 TET2 STAT5B STAT5A JAK2 IFNA2 IFNA1
43 leukemia, acute myeloid 30.9 TP53 THPO TET2 STAT5B STAT5A MPL
44 hemolytic anemia 30.9 VWF THBD IFNA2 EPO
45 respiratory failure 30.9 THBD PPBP PF4 EPO
46 hairy cell leukemia 30.9 TP53 IL3 IFNA2 IFNA1
47 acute erythroid leukemia 30.9 TP53 JAK2
48 mitral valve stenosis 30.9 VWF SELP PPBP PF4
49 acquired polycythemia 30.9 MPL JAK2 EPO
50 antiphospholipid syndrome 30.8 VWF THBD SELP PF4

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:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myocardial infarction 58 31 hallmark (90%) Very frequent (99-80%) HP:0001658
2 abnormal bleeding 58 31 hallmark (90%) Very frequent (99-80%) HP:0001892
3 transient ischemic attack 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002326
4 chest pain 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0100749
5 venous thrombosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004936
6 paresthesia 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003401
7 amaurosis fugax 58 31 hallmark (90%) Very frequent (99-80%) HP:0100576
8 thrombocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001894
9 prolonged bleeding time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003010
10 abnormal platelet morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011875
11 arterial thrombosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004420
12 increased megakaryocyte count 58 31 hallmark (90%) Very frequent (99-80%) HP:0005513
13 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
14 splenomegaly 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001744
15 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
16 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
17 peripheral arterial stenosis 31 frequent (33%) HP:0004950
18 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
19 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
20 visual field defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001123
21 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
22 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002863
23 acute myeloid leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004808
24 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
25 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
26 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
27 chronic myelogenous leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005506
28 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279
29 spontaneous abortion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005268
30 myelofibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011974
31 cerebral ischemia 58 Frequent (79-30%)
32 abnormality of the cerebral vasculature 58 Very frequent (99-80%)
33 abnormality of thrombocytes 58 Very frequent (99-80%)
34 abnormality of bone marrow cell morphology 58 Very frequent (99-80%)
35 occlusive vascular disease 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Essential Thrombocythemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 CALR EPO JAK2 MPL SELP SH2B3
2 hematopoietic system MP:0005397 10 CD177 EPO JAK2 MPL PF4 SELP
3 immune system MP:0005387 9.77 CD177 EPO JAK2 MPL SELP SH2B3
4 liver/biliary system MP:0005370 9.23 EPO JAK2 SELP STAT5A STAT5B TET2

Drugs & Therapeutics for Essential Thrombocythemia

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

(show top 50) (show all 228)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
4
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
5
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
6
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
7
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
8
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
9
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
10
Pomalidomide Approved Phase 3 19171-19-8
11
Dalteparin Approved Phase 3 9005-49-6
12
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
13
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
14
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
15
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 468682 2826718
16
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
17
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
18
Anagrelide Approved Phase 2, Phase 3 68475-42-3 2182
19
Hydroxyurea Approved Phase 3 127-07-1 3657
20
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
21
Peginterferon alfa-2b Approved Phase 3 215647-85-1, 99210-65-8
22
Mercaptopurine Approved Phase 3 50-44-2 667490
23
Melphalan Approved Phase 3 148-82-3 4053 460612
24
Danazol Approved Phase 3 17230-88-5 28417
25
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
26
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
27
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
28 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
29 Anesthetics, Dissociative Phase 3
30 Analgesics Phase 3
31 Anti-Infective Agents Phase 3
32 Angiogenesis Inhibitors Phase 3
33 Neurotransmitter Agents Phase 3
34 Liver Extracts Phase 3
35 Anti-Bacterial Agents Phase 3
36 Antifungal Agents Phase 3
37 Etoposide phosphate Phase 2, Phase 3
38 Antipsychotic Agents Phase 3
39 Central Nervous System Depressants Phase 3
40 Tranquilizing Agents Phase 3
41 Analgesics, Opioid Phase 3
42 Psychotropic Drugs Phase 3
43 Antipruritics Phase 3
44 Anti-Anxiety Agents Phase 3
45 Serotonin Agents Phase 3
46 Serotonin Antagonists Phase 3
47 Cola Phase 3
48 Heparin, Low-Molecular-Weight Phase 3
49 calcium heparin Phase 3
50 Narcotics Phase 3

Interventional clinical trials:

(show top 50) (show all 271)
# Name Status NCT ID Phase Drugs
1 A UK Open-label, Multicentre, Exploratory Phase II Study of INC424 for Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4 INC424
2 A Phase IIIb, Randomized, Open Label Study to Compare the Safety, Efficacy and Tolerability of Anagrelide Hydrochloride Versus Hydroxyurea in High-Risk Essential Thrombocythaemia Patients. Completed NCT00202644 Phase 4 Anagrelide;Hydroxyurea
3 A Multicenter, Open-label, Clinical Study for Efficacy and Safety Evaluation of Anagrelide in Patients With Treatment-naïve, High-risk Essential Thrombocythemia as a Primary Treatment Recruiting NCT03232177 Phase 4 Anagre Cap.
4 An Open Label, Multi-center, Phase IV Rollover Protocol for Patients Who Have Completed a Global Novartis or Incyte Sponsored Ruxolitinib (INC424) or Ruxolitinib and Panobinostat (LBH589) Combination Study and Are Judged by the Investigator to Benefit From Continued Treatment Recruiting NCT02386800 Phase 4 Ruxolitinib;Panobinostat
5 A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients Unknown status NCT01316744 Phase 3 ketamine hydrochloride
6 A Phase 3, Multi-centre, Open-label, Extension Study to Investigate the Long-term Safety of SPD422 in Japanese Adults With Essential Thrombocythaemia Completed NCT01467661 Phase 3 SPD422 (anagrelide hydrochloride)
7 A Phase 3, Open-label, Single-arm Study Evaluating the Effect of SPD422 on Platelet Lowering and Safety in Japanese Adults With At Risk Essential Thrombocythaemia Who Are Intolerant or Refractory to Current Cytoreductive Treatment Completed NCT01214915 Phase 3 Anagrelide Hydrochloride
8 A Multicenter, Open-label Clinical Study of the JAK Inhibitor Ruxolitinib (INC424) in Patients With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis Completed NCT02087059 Phase 3 Ruxolitinib
9 A Single Blind, Multi-centre, Randomised Multinational Phase III Study to Compare the Efficacy and Tolerability of Anagrelide vs Hydroxyurea in Patients With Essential Thrombocythaemia Completed NCT01065038 Phase 3 Anagrelide;Hydroxyurea
10 An Open-label, Multicenter, Expanded Access Study of INC424 for Patients With Primary Myelofibrosis (PMF) or Post Polycythemia Myelofibrosis (PPV MF) or Post-essential Thrombocythemia Myelofibrosis (PET-MF). Completed NCT01493414 Phase 3 INC424
11 A Phase III Randomized, Multicenter, Double-blind, Active Controlled Study to Compare the Efficacy and Safety of Two Different Anagrelide Formulations in Patients With Essential Thrombocythemia (TEAM-ET 2.0) Completed NCT02076815 Phase 3 Anagrelide retard;Thromboreductin
12 A Phase III, Randomized, Multicenter, Subject and Sponsor-blinded, Placebo Controlled Study to Compare the Efficacy and Safety of "Anagrelide Retard" Versus Placebo in "at Risk" Subjects With Essential Thrombocythaemia Completed NCT01230775 Phase 3 Anagrelide retard;Placebo
13 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea Therapy in the Treatment of High Risk Polycythemia Vera (PV) and High Risk Essential Thrombocythemia (ET) Completed NCT01259856 Phase 3 PEGASYS;Hydroxyurea;Aspirin
14 A Randomized Study of Ruxolitinib Tablets Compared to Best Available Therapy in Subjects With Primary Myelofibrosis, Post-Polycythemia Vera-Myelofibrosis or Post-Essential Thrombocythemia Myelofibrosis Completed NCT00934544 Phase 3 Ruxolitinib;Best Available Therapy (BAT)
15 A Randomized, Double-blind, Placebo-controlled Study of the JAK Inhibitor INCB018424 Tablets Administered Orally to Subjects With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis or Post-Essential Thrombocythemia Myelofibrosis Completed NCT00952289 Phase 3 Ruxolitinib;Placebo
16 A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled, 3-Arm Study of SAR302503 in Patients With Intermediate-2 or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis With Splenomegaly Completed NCT01437787 Phase 3 SAR302503;Placebo
17 A Phase-3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Compare Efficacy and Safety of Pomalidomide in Subjects With Myeloproliferative Neoplasm-Associated Myelofibrosis and Red Blood Cell-Transfusion-Dependence Completed NCT01178281 Phase 3 Pomalidomide 0.5 mg;Placebo;Pomalidomide
18 Phase III, Randomized, Double-Blind, Placebo-Controlled Crossover Trial of Ondansetron in the Control of Chronic Nausea and Vomiting Not Due to Antineoplastic Therapy in Patients With Advanced Cancer Completed NCT00006348 Phase 3 ondansetron
19 A Phase III Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effects of Fragmin (5,000 IU Subcutaneously) in Preventing Catheter-Related Complications When Given Daily to Cancer Patients With Central Venous Catheters Completed NCT00006083 Phase 3 Fragmin
20 Allogeneic Blood or Marrow Transplantation for Hematologic Malignancy and Aplastic Anemia Completed NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
21 A Phase III Double-Blind Equivalence Study of Two Different Formulations of Slow-Release Morphine Followed by a Randomization Between Dextromethorphan or Placebo Plus Statex SR for Chronic Cancer Pain Relief in Terminally Ill Patients Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
22 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
23 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
24 A Multicenter, Double-Blind, Randomized, Comparative Study To Evaluate The Safety, Tolerability, And Efficacy Of MK-0991 Versus (Amphotericin B) Liposome For Injection As Empirical Therapy In Patients With Persistent Fever And Neutropenia Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
25 A Strategic Study to Determine the Optimal Moment to Initiate Systemic Antifungal Therapy With Ambisome in Granulocytopenic Cancer Patients With Unexplained Fever Refractory to Empirical Antibacterials Completed NCT00003938 Phase 3 liposomal amphotericin B
26 The Use of American Ginseng (Panax Quinquefolius) to Improve Cancer-Related Fatigue: A Randomized, Double-Blind, Placebo-Controlled Phase III Study Completed NCT00719563 Phase 3 American ginseng
27 Phase III Randomized Trial of an Opioid Titration Order Sheet Compared to Standard of Care in Patients With Cancer Related Pain. Completed NCT00666211 Phase 3
28 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
29 A Phase 3b, Multicenter, Single-arm, Open-label Safety AND Efficacy Study of Fedratinib in Subjects With DIPSS-Intermediate or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Recruiting NCT03755518 Phase 3 FEDRATINIB
30 A Phase 3, Multicenter, Open-label, Randomized Study to Evaluate the Efficacy and Safety of Fedratinib Compared to Best Available Therapy (BAT) in Subjects With DIPSS (Dynamic International Prognostic Scoring System)-Intermediate or High-risk Primary Myelofibrosis (PMF), Post-polycythemia Vera Myelofibrosis (Post-PV MF), or Post-essential Thrombocythemia Myelofibrosis (Post-ET MF) and Previously Treated With Ruxolitinib Recruiting NCT03952039 Phase 3 FEDRATINIB;Best Available Therapy (BAT)
31 French Aspirin Study in Essential Thrombocythemia: an Open and Randomized Study Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
32 A Randomized, Multicenter Phase IIb Study to Evaluate the Efficacy and Safety of Ruxolitinib Versus Best Available Therapy in Patients With High Risk Essential Thrombocythemia, Who Are Resistant or Intolerant to Hydroxyurea: A FIM Study Active, not recruiting NCT02962388 Phase 2, Phase 3 Anagrelide;Ruxolitinib (JAKAVI®);IFNα/ PegIFNα
33 A Phase 3, Randomized, Double-blind Active-controlled Study Evaluating Momelotinib vs. Ruxolitinib in Subjects With Primary Myelofibrosis (PMF) or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis (Post-PV/ET MF) Active, not recruiting NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
34 A Phase 3, Randomized Study To Evaluate the Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis Who Were Treated With Ruxolitinib Active, not recruiting NCT02101268 Phase 3 Momelotinib;Best Available Therapy (BAT)
35 A Randomized, Double-Blind, Phase 3 Study of Momelotinib vs Danazol in Symptomatic, Anemic Subjects With Previously JAKi Treated Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post Essential Thrombocythemia Myelofibrosis Active, not recruiting NCT04173494 Phase 3 Momelotinib;Danazol;Placebo to match momelotinib;Placebo to match danazol
36 Danish Study of Low-dose Interferon Alpha Versus Hydroxyurea in the Treatment of Philadelphia Chromosome Negative (Ph-)Chronic Myeloid Neoplasms. Active, not recruiting NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
37 A Randomized Controlled Phase 3 Study of Oral Pacritinib Versus Best Available Therapy in Patients With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Terminated NCT01773187 Phase 3 Pacritinib;Best Available Therapy
38 A Randomized Controlled Phase 3 Study of Oral Pacritinib Versus Best Available Therapy in Patients With Thrombocytopenia and Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis Terminated NCT02055781 Phase 3 Pacritinib;Best Available Therapy
39 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
40 A Phase I/II Open Label Study of LBH589, a Novel Histone Deacetylase Inhibitor (HDACi), in Patients With Primary Myelofibrosis (PMF) and Post-polycythemia/Essential Thrombocythemia Myelofibrosis (Post-PV/ET MF) Unknown status NCT01298934 Phase 1, Phase 2 LBH589
41 A Multicenter, Open Label Phase I/II Study of CEP-701 (Lestaurtinib) in Adults With Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2 CEP-701 (Lestaurtinib)
42 A Phase II Trial to Evaluate the Activity of Imetelstat (GRN163L) in Patients With Essential Thrombocythemia or Polycythemia Vera Who Require Cytoreduction and Have Failed or Are Intolerant to Previous Therapy, or Who Refuse Standard Therapy Completed NCT01243073 Phase 2 Imetelstat
43 Open-label Study to Assess the Long-term Safety and Efficacy of Momelotinib in Subjects With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, Post Essential Thrombocythemia Myelofibrosis, Polycythemia Vera or Essential Thrombocythemia Completed NCT02124746 Phase 2 Momelotinib
44 A Phase 2, Open-label, Translational Biology Study of Momelotinib in Transfusion-Dependent Subjects With Primary Myelofibrosis (PMF) or Post-polycythemia Vera or Post-essential Thrombocythemia Myelofibrosis (Post-PV/ET MF) Completed NCT02515630 Phase 2 MMB
45 An Open-Label Study of Oral CEP-701 in Patients With Polycythemia Vera or Essential Thrombocytosis With the JAK2 V617F Mutation Completed NCT00586651 Phase 2 lestaurtinib
46 A Multi-national Open-label Phase II Study of the JAK Inhibitor INC424 in Patients With Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis Completed NCT01392443 Phase 2 Ruxolitinib
47 A Phase II, Open-label, Multicentre, Pharmacokinetic, Pharmacodynamic and Safety Study of Anagrelide Hydrochloride in Young (18-50 Years) and Elderly (≥ 65 Years) Patients With Essential Thrombocythaemia. Completed NCT00413634 Phase 2 anagrelide hydrochloride
48 A Phase 1/2 Study of Oral SB1518 in Subjects With Chronic Idiopathic Myelofibrosis Completed NCT00745550 Phase 1, Phase 2 SB1518
49 An Open Label Assessment of Safety and Efficacy of Ruxolitinib (INCB018424) in Subjects With Primary Myelofibrosis (PMF), Post Essential Thrombocythemia-myelofibrosis (PPV-MF) and Post Polycythemia Vera-myelofibrosis (PET-MF) Who Have Platelet Counts of 50 x 10^9/L to 100 x 10^9/L Completed NCT01348490 Phase 2 Ruxolitinib (INCB018424)
50 A Phase 1/2, Open-Label Study of the JAK2 Inhibitor INCB018424 Administered Orally to Patients With Primary Myelofibrosis (PMF) and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis (Post-PV/ET) Completed NCT00509899 Phase 1, Phase 2 Ruxolitinib

Search NIH Clinical Center for Essential Thrombocythemia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


hydroxyurea
Interferon Alfa-2a
Interferon Alfa-2b
INTERFERON ALFA-3N,HUMAN LEUKOCYTE DERIVED
interferon alfacon-1
Interferon gamma-1b
Interferons
peginterferon alfa-2a
peginterferon alfa-2b
Recombinant interferon beta-1a
Recombinant interferon beta-1b

Cochrane evidence based reviews: thrombocythemia, essential

Genetic Tests for Essential Thrombocythemia

Genetic tests related to Essential Thrombocythemia:

# Genetic test Affiliating Genes
1 Essential Thrombocythemia 29 CALR SH2B3 THPO

Anatomical Context for Essential Thrombocythemia

MalaCards organs/tissues related to Essential Thrombocythemia:

40
Myeloid, Bone, Bone Marrow, Skin, Spleen, T Cells, Lung

Publications for Essential Thrombocythemia

Articles related to Essential Thrombocythemia:

(show top 50) (show all 3415)
# Title Authors PMID Year
1
MicroRNA expression profiling of megakaryocytes in primary myelofibrosis and essential thrombocythemia. 61 46
19811223 2009
2
Screening for MPL mutations in essential thrombocythemia and primary myelofibrosis: normal Mpl expression and absence of constitutive STAT3 and STAT5 activation in MPLW515L-positive platelets. 54 61
20113333 2010
3
Mutational analysis in BCR-ABL-negative classic myeloproliferative neoplasms: impact on prognosis and therapeutic choices. 54 61
20214447 2010
4
MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferative disorders detected by a newly developed RQ-PCR based on TaqMan MGB probes. 54 61
19274616 2010
5
JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. 54 61
19643476 2010
6
Phase 2 study of CEP-701, an orally available JAK2 inhibitor, in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. 54 61
20008298 2010
7
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. 54 61
20013324 2010
8
Is the absence of JAK2 mutation a risk factor for bleeding in essential thrombocythemia? An analysis of 106 patients. 54 61
20104275 2010
9
The influence of low-dose aspirin and hydroxyurea on platelet-leukocyte interactions in patients with essential thrombocythemia. 54 61
19741509 2009
10
In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm. 54 61
19541820 2009
11
The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. 54 61
19483125 2009
12
Identification of a novel inhibitor of JAK2 tyrosine kinase by structure-based virtual screening. 54 61
19447617 2009
13
Significant increase in the apparent incidence of essential thrombocythemia related to new WHO diagnostic criteria: a population-based study. 54 61
19377078 2009
14
The mutant JAK2 allele burden in children with essential thrombocythemia. 54 61
19208099 2009
15
[Summary of pathophysiology and diagnosis of patients with platelet abnormality]. 54 61
19522256 2009
16
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. 54 61
19287382 2009
17
High resolution melting analysis for JAK2 Exon 14 and Exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms. 54 61
19225136 2009
18
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. 54 61
19175693 2009
19
Molecular and genetic bases of myeloproliferative disorders: questions and perspectives. 54 61
19778861 2009
20
Therapeutic potential of JAK2 inhibitors. 54 61
20008249 2009
21
Correlation of JAK2 V617F mutant allele quantitation with clinical presentation and type of chronic myeloproliferative neoplasm. 54 61
19880761 2009
22
Consistent up-regulation of Stat3 Independently of Jak2 mutations in a new murine model of essential thrombocythemia. 54 61
19118011 2009
23
Oncogenic signals as treatment targets in classic myeloproliferative neoplasms. 54 61
19147089 2009
24
Proteomic study of the impact of the JAK2-V617F mutation on the phenotype of essential thrombocythemia. 54 61
18838204 2008
25
Interferon-alpha therapy in bcr-abl-negative myeloproliferative neoplasms. 54 61
18843285 2008
26
HLA-B*2709 and lack of susceptibility to sacroiliitis: further support from the clinic. 54 61
19210881 2008
27
Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia. 54 61
18618714 2008
28
Epigenetic alteration of SOCS family members is a possible pathogenetic mechanism in JAK2 wild type myeloproliferative diseases. 54 61
18623127 2008
29
Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis development. 54 61
18786436 2008
30
The hematopoietic stem cell compartment of JAK2V617F-positive myeloproliferative disorders is a reflection of disease heterogeneity. 54 61
18612101 2008
31
Megakaryopoiesis and platelet function in polycythemia vera and essential thrombocythemia patients with JAK2 V617F mutation. 54 61
18612778 2008
32
A sensitive detection method for MPLW515L or MPLW515K mutation in chronic myeloproliferative disorders with locked nucleic acid-modified probes and real-time polymerase chain reaction. 54 61
18669880 2008
33
Familial essential thrombocythemia with spontaneous megakaryocyte colony formation and acquired JAK2 mutations. 54 61
18496561 2008
34
Pharmacotherapy of essential thrombocythemia. 54 61
18570601 2008
35
Essential thrombocythemia, polycythemia vera, and myelofibrosis: current management and the prospect of targeted therapy. 54 61
18429051 2008
36
The expression levels of telomerase catalytic subunit hTERT and oncogenic MYC in essential thrombocythemia are affected by the molecular subtype. 54 61
18084761 2008
37
Essential thrombocythemia in a child with elevated thrombopoietin concentrations and skeletal anomalies. 54 61
17455310 2008
38
Most pediatric patients with essential thrombocythemia show hypersensitivity to erythropoietin in vitro, with rare JAK2 V617F-positive erythroid colonies. 54 61
17719087 2008
39
Activation loop tyrosines allow the JAK2(V617F) mutant to attain hyperactivation. 54 61
18841497 2008
40
Application of PRV-1 mRNA expression level and JAK2V617F mutation for the differentiating between polycytemia vera and secondary erythrocytosis and assessment of treatment by interferon or hydroxyurea. 54 61
17852451 2007
41
PEG-IFN-alpha-2b therapy in BCR-ABL-negative myeloproliferative disorders: final result of a phase 2 study. 54 61
17849460 2007
42
Bone marrow histomorphology and JAK2 mutation status in essential thrombocythemia. 54 61
18092959 2007
43
Epigenetic control of PRV-1 expression on neutrophils. 54 61
17976520 2007
44
Neutrophil-specific antigen HNA-2a, NB1 glycoprotein, and CD177. 54 61
17898576 2007
45
The association of JAK2V617F mutation and leukocytosis with thrombotic events in essential thrombocythemia. 54 61
17920754 2007
46
Advances in the molecular characterization of Philadelphia-negative chronic myeloproliferative disorders. 54 61
17906464 2007
47
JAK2 mutations and clinical practice in myeloproliferative neoplasms. 54 61
18032973 2007
48
Bone marrow renin-angiotensin system expression in polycythemia vera and essential thrombocythemia depends on JAK2 mutational status. 54 61
17873518 2007
49
The role of Janus Kinase 2 V617F mutation in extramedullary hematopoiesis of the spleen in neoplastic myeloid disorders. 54 61
17643100 2007
50
Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel. 54 61
17488875 2007

Variations for Essential Thrombocythemia

ClinVar genetic disease variations for Essential Thrombocythemia:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MPL NM_005373.2(MPL):c.305G>C (p.Arg102Pro)SNV Pathogenic 14158 rs28928907 1:43804305-43804305 1:43338634-43338634
2 MPL NM_005373.2(MPL):c.235_236del (p.Leu79fs)deletion Pathogenic 134822 rs587778514 1:43804235-43804236 1:43338564-43338565
3 MPL NM_005373.2(MPL):c.1069C>T (p.Arg357Ter)SNV Pathogenic 660904 1:43812204-43812204 1:43346533-43346533
4 MPL NM_005373.2(MPL):c.1194G>A (p.Trp398Ter)SNV Pathogenic 660831 1:43812491-43812491 1:43346820-43346820
5 MPL NM_005373.2(MPL):c.1462G>T (p.Glu488Ter)SNV Pathogenic 656664 1:43814667-43814667 1:43348996-43348996
6 MPL NC_000001.10:g.(?_43814924)_(43815040_?)deldeletion Pathogenic 665044 1:43814924-43815040 1:43349253-43349369
7 MPL NM_005373.2(MPL):c.304C>T (p.Arg102Cys)SNV Pathogenic 644406 1:43804304-43804304 1:43338633-43338633
8 MPL NM_005373.2(MPL):c.79+2T>ASNV Pathogenic/Likely pathogenic 135563 rs146249964 1:43803600-43803600 1:43337929-43337929
9 MPL NM_005373.2(MPL):c.317C>T (p.Pro106Leu)SNV Pathogenic/Likely pathogenic 265248 rs750046020 1:43804317-43804317 1:43338646-43338646
10 MPL NM_005373.2(MPL):c.981-1G>CSNV Likely pathogenic 665962 1:43812115-43812115 1:43346444-43346444
11 MPL NM_005373.2(MPL):c.1178C>T (p.Thr393Ile)SNV Uncertain significance 576320 rs779132175 1:43812475-43812475 1:43346804-43346804
12 MPL NM_005373.2(MPL):c.655C>G (p.Gln219Glu)SNV Uncertain significance 134829 rs142737453 1:43805205-43805205 1:43339534-43339534
13 MPL NM_005373.2(MPL):c.311T>C (p.Phe104Ser)SNV Uncertain significance 653595 1:43804311-43804311 1:43338640-43338640

Cosmic variations for Essential Thrombocythemia:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87484594 GNAQ skin,upper leg,benign melanocytic nevus,cellular c.626A>T p.Q209L 9:77794572-77794572 8

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 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.02 VWF TP53 STAT5B STAT5A PPBP JAK2
2
Show member pathways
13.55 TP53 THPO STAT5B STAT5A PPBP PF4
3
Show member pathways
13.46 TP53 THPO STAT5B STAT5A PPBP MPL
4
Show member pathways
13.39 TP53 THPO STAT5B STAT5A PPBP PF4
5
Show member pathways
13.33 VWF TP53 STAT5B STAT5A JAK2 IL3
6
Show member pathways
13.09 TP53 STAT5B STAT5A JAK2 IFNA2 IFNA1
7
Show member pathways
12.98 VWF TP53 JAK2 IL3 IFNA2 IFNA1
8
Show member pathways
12.88 VWF TP53 THPO THBD SH2B3 SELP
9
Show member pathways
12.86 STAT5B STAT5A PPBP PF4 JAK2 CALR
10 12.77 TP53 JAK2 IFNA2 IFNA1 CALR
11
Show member pathways
12.77 TP53 STAT5B STAT5A JAK2 IFNA2 IFNA1
12
Show member pathways
12.75 THPO STAT5B STAT5A MPL JAK2
13 12.7 TP53 STAT5B STAT5A JAK2 IL3 IFNA2
14 12.54 STAT5B STAT5A MPL JAK2 IL3 IFNA1
15
Show member pathways
12.37 TP53 STAT5B STAT5A JAK2
16 12.31 TP53 STAT5B STAT5A CALR
17
Show member pathways
12.31 STAT5B STAT5A JAK2 IL3
18
Show member pathways
12.29 STAT5B STAT5A JAK2 IFNA2 IFNA1
19
Show member pathways
12.25 TP53 THPO PPBP IL3 IFNA2 IFNA1
20
Show member pathways
12.21 THBD SELP PF4 CD177
21
Show member pathways
12.21 STAT5B STAT5A JAK2 IFNA2 IFNA1
22
Show member pathways
12.15 VWF THBD PF4 CD177
23 12.13 TP53 SH2B3 JAK2 IFNA2 IFNA1
24
Show member pathways
12.01 STAT5B STAT5A SH2B3 JAK2 IL3 EPO
25 11.91 THBD STAT5B STAT5A JAK2
26 11.87 THPO IL3 EPO
27 11.87 THPO STAT5B STAT5A MPL JAK2
28
Show member pathways
11.86 VWF THPO MPL
29
Show member pathways
11.84 STAT5B STAT5A JAK2 IL3
30
Show member pathways
11.84 STAT5B STAT5A SH2B3 JAK2 EPO
31 11.8 THPO SH2B3 MPL IL3 IFNA2 EPO
32 11.78 TP53 STAT5B STAT5A
33 11.74 STAT5B STAT5A JAK2
34 11.66 STAT5B STAT5A JAK2
35 11.66 STAT5B STAT5A SELP JAK2
36 11.64 STAT5B STAT5A JAK2 IL3 IFNA2 IFNA1
37
Show member pathways
11.64 THPO STAT5B STAT5A MPL JAK2 IL3
38 11.53 STAT5B STAT5A JAK2
39 11.51 STAT5A IL3 EPO
40 11.5 STAT5B STAT5A JAK2
41
Show member pathways
11.43 STAT5B STAT5A JAK2
42 11.41 STAT5B STAT5A JAK2
43
Show member pathways
11.4 STAT5B STAT5A JAK2
44
Show member pathways
11.17 STAT5B STAT5A SELP JAK2
45 11.05 STAT5B STAT5A JAK2

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 9.65 VWF THPO PPBP PF4 IL3 IFNA2
2 extracellular space GO:0005615 9.36 THPO THBD SELP PPBP PF4 MIR223
3 platelet alpha granule lumen GO:0031093 9.33 VWF PPBP PF4

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.99 THPO JAK2 IL3 EPO CALR
2 regulation of cell proliferation GO:0042127 9.83 TP53 STAT5B STAT5A PF4
3 response to lipopolysaccharide GO:0032496 9.8 THBD SELP JAK2 EPO
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.77 TP53 JAK2 IL3
5 platelet degranulation GO:0002576 9.76 VWF SELP PPBP PF4
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.74 SELP JAK2 EPO
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 JAK2 IL3 IFNA2 EPO
8 defense response GO:0006952 9.63 STAT5B STAT5A PPBP PF4 IFNA2 IFNA1
9 embryonic hemopoiesis GO:0035162 9.61 SH2B3 IL3
10 response to hyperoxia GO:0055093 9.61 TP53 EPO
11 JAK-STAT cascade GO:0007259 9.61 STAT5B STAT5A JAK2
12 interleukin-15-mediated signaling pathway GO:0035723 9.58 STAT5B STAT5A
13 positive regulation of leukocyte migration GO:0002687 9.58 TP53 SELP
14 interleukin-2-mediated signaling pathway GO:0038110 9.56 STAT5B STAT5A
15 response to salt stress GO:0009651 9.55 TP53 EPO
16 interleukin-9-mediated signaling pathway GO:0038113 9.54 STAT5B STAT5A
17 neutrophil homeostasis GO:0001780 9.51 SH2B3 MPL
18 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.5 STAT5B STAT5A JAK2
19 blood coagulation GO:0007596 9.5 VWF THBD SH2B3 JAK2 IFNA2 IFNA1
20 taurine metabolic process GO:0019530 9.48 STAT5B STAT5A
21 thrombopoietin-mediated signaling pathway GO:0038163 9.43 THPO SH2B3 MPL
22 monocyte homeostasis GO:0035702 9.4 SH2B3 MPL
23 cytokine-mediated signaling pathway GO:0019221 9.28 TP53 STAT5B STAT5A PF4 MPL JAK2

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 VWF TP53 CALR
2 cytokine activity GO:0005125 9.17 THPO PPBP PF4 IL3 IFNA2 IFNA1
3 protease binding GO:0002020 9.13 VWF TP53 CD177

Sources for Essential Thrombocythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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