ET
MCID: ESS003
MIFTS: 68

Essential Thrombocythemia (ET)

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

Aliases & Classifications for Essential Thrombocythemia

MalaCards integrated aliases for Essential Thrombocythemia:

Name: Essential Thrombocythemia 12 73 20 43 58 15 17
Essential Thrombocytosis 20 43 58 36
Hemorrhagic Thrombocythemia 12 20
Hereditary Thrombocythemia 12 58
Idiopathic Thrombocythemia 20 6
Thrombocythemia, Essential 44 70
Familial Thrombocytosis 12 58
Primary Thrombocythemia 20 43
Primary Thrombocytosis 12 43
Essential Thrombocythaemia 12
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

GARD : 20 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 acquired von willebrand syndrome 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 bone marrow, myeloid and bone, and related phenotypes are myocardial infarction and venous thrombosis

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.

MedlinePlus Genetics : 43 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 : 73 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 460)
# Related Disease Score Top Affiliating Genes
1 acquired von willebrand syndrome 32.6 VWF JAK2 CALR
2 polycythemia vera 32.4 VWF TP53 THPO THBD TET2 STAT5B
3 myeloproliferative neoplasm 32.2 VWF THPO TET2 STAT5B STAT5A SH2B3
4 thrombocythemia 1 32.2 THPO SH2B3 MPL CUX2 CALR
5 polycythemia 32.1 THPO TET2 STAT5B STAT5A SH2B3 PPBP
6 thrombocytosis 32.0 VWF THPO TET2 SH2B3 PPBP PF4
7 thrombosis 32.0 VWF THBD PPBP PF4 JAK2 EPO
8 splenomegaly 32.0 MPL JAK2 IFNA2 IFNA1 EPO
9 acute leukemia 31.8 THPO MPL JAK2 IL3 EPO
10 myelofibrosis 31.8 TP53 THPO TET2 STAT5B STAT5A SH2B3
11 erythromelalgia 31.7 THBD PPBP PF4
12 myeloid leukemia 31.6 TP53 TET2 STAT5B STAT5A JAK2 IL3
13 leukemia 31.4 TP53 THPO TET2 MPL JAK2 IL3
14 leukemia, acute myeloid 31.4 TP53 THPO TET2 STAT5B STAT5A MPL
15 thrombophilia 31.4 VWF THBD PPBP PF4 JAK2
16 acute myocardial infarction 31.4 VWF THBD PF4 MIR223
17 von willebrand's disease 31.3 VWF PPBP PF4
18 thrombophilia due to thrombin defect 31.3 VWF THBD PF4
19 budd-chiari syndrome 31.3 MPL JAK2 CALR
20 portal vein thrombosis 31.3 MPL JAK2 IFNA1 CALR
21 myelodysplastic syndrome 31.3 TP53 THPO TET2 STAT5B STAT5A SH2B3
22 myocardial infarction 31.3 VWF TP53 THBD PPBP PF4 MIR223
23 refractory anemia 31.2 TET2 MPL JAK2 EPO
24 leukemia, chronic myeloid 31.2 TP53 THPO STAT5B STAT5A MPL MIR223
25 myeloma, multiple 31.2 TP53 TET2 SH2B3 JAK2 IL3
26 thrombocytopenia 31.2 VWF THPO THBD PPBP PF4 MPL
27 portal hypertension 31.2 VWF THPO JAK2
28 purpura 31.1 VWF THPO THBD MPL
29 chronic myelomonocytic leukemia 31.0 TP53 TET2 STAT5A MPL JAK2 CALR
30 hypereosinophilic syndrome 31.0 STAT5B JAK2 IL3 IFNA2 IFNA1
31 deficiency anemia 31.0 THPO SH2B3 MPL JAK2 IL3 IFNA2
32 pancytopenia 30.9 TP53 THPO MPL IL3 EPO
33 thrombocytopenic purpura, autoimmune 30.9 THPO MPL IFNA2
34 vascular disease 30.9 VWF TP53 THBD PPBP PF4 EPO
35 acute megakaryocytic leukemia 30.9 TP53 THPO STAT5B STAT5A PF4 MPL
36 leukemia, acute lymphoblastic 30.9 TP53 THPO STAT5B STAT5A MPL MIR223
37 thrombocytopenia due to platelet alloimmunization 30.8 THPO PF4 MPL
38 myelodysplastic/myeloproliferative neoplasm 30.8 TET2 STAT5B STAT5A JAK2
39 leukemia, chronic lymphocytic 30.8 TP53 THPO MIR223 JAK2 IFNA1
40 peripheral vascular disease 30.8 VWF TP53 THBD PPBP PF4 EPO
41 neutropenia 30.8 TP53 THPO MPL IL3 IFNA2 IFNA1
42 stroke, ischemic 30.8 VWF THBD PPBP PF4
43 mastocytosis 30.8 TET2 STAT5B STAT5A JAK2 IL3 IFNA2
44 systemic mastocytosis 30.7 TET2 STAT5B STAT5A JAK2 IFNA2 IFNA1
45 primary thrombocytopenia 30.7 VWF THPO MPL
46 neutrophilia, hereditary 30.7 MIR223 JAK2 IL3
47 hemolytic anemia 30.7 VWF THBD IL3 IFNA2 IFNA1 EPO
48 hairy cell leukemia 30.7 TP53 IL3 IFNA2 IFNA1
49 respiratory failure 30.7 THBD PPBP PF4 EPO
50 hemorrhagic disease 30.6 VWF THPO THBD PPBP PF4 MPL

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 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myocardial infarction 58 31 hallmark (90%) Very frequent (99-80%) HP:0001658
2 venous thrombosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004936
3 transient ischemic attack 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002326
4 paresthesia 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0003401
5 chest pain 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0100749
6 prolonged bleeding time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003010
7 abnormal platelet morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011875
8 arterial thrombosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004420
9 abnormal bleeding 58 31 hallmark (90%) Very frequent (99-80%) HP:0001892
10 amaurosis fugax 58 31 hallmark (90%) Very frequent (99-80%) HP:0100576
11 increased megakaryocyte count 58 31 hallmark (90%) Very frequent (99-80%) HP:0005513
12 thrombocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001894
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 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
16 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
17 peripheral arterial stenosis 31 frequent (33%) HP:0004950
18 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
19 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002863
20 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
21 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
22 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
23 chronic myelogenous leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005506
24 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
25 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279
26 visual field defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001123
27 spontaneous abortion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005268
28 myelofibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011974
29 acute myeloid leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004808
30 seizure 31 occasional (7.5%) HP:0001250
31 seizures 58 Occasional (29-5%)
32 abnormality of thrombocytes 58 Very frequent (99-80%)
33 cerebral ischemia 58 Frequent (79-30%)
34 abnormality of the cerebral vasculature 58 Very frequent (99-80%)
35 abnormality of bone marrow cell morphology 58 Very frequent (99-80%)
36 occlusive vascular disease 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Essential Thrombocythemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 CALR CUX2 EPO JAK2 MPL SH2B3
2 hematopoietic system MP:0005397 9.77 CD177 EPO JAK2 MPL PF4 SH2B3
3 immune system MP:0005387 9.4 CD177 EPO JAK2 MPL SH2B3 STAT5A

Drugs & Therapeutics for Essential Thrombocythemia

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

(show top 50) (show all 219)
# 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
Lactitol Approved, Investigational Phase 4 585-86-4 157355
4
Panobinostat Approved, Investigational Phase 4 404950-80-7 6918837
5
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
6 interferons Phase 4
7 Interferon-alpha Phase 4
8 Histone Deacetylase Inhibitors Phase 4
9 Interferon alpha-2 Phase 4
10
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
11
Dalteparin Approved Phase 3 9005-49-6
12
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
13
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
14
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
15
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
16
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
17
Iron Approved Phase 3 7439-89-6 23925 29936
18
Sodium citrate Approved, Investigational Phase 3 68-04-2
19
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
20
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
21
Melphalan Approved Phase 3 148-82-3 4053 460612
22
Hydroxyurea Approved Phase 3 127-07-1 3657
23
Danazol Approved Phase 3 17230-88-5 28417
24
Mercaptopurine Approved Phase 3 50-44-2 667490
25
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
26
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
27
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
28 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
29 Anesthetics, Dissociative Phase 3
30 Cola Phase 3
31 Heparin, Low-Molecular-Weight Phase 3
32 Narcotics Phase 3
33 Excitatory Amino Acid Antagonists Phase 3
34 Analgesics, Opioid Phase 3
35 Mitogens Phase 3
36 Antiparasitic Agents Phase 3
37 Antiprotozoal Agents Phase 3
38 Amebicides Phase 3
39 Liposomal amphotericin B Phase 3
40 Liver Extracts Phase 3
41 Anesthetics Phase 3
42 Anesthetics, Intravenous Phase 3
43 Anesthetics, General Phase 3
44 Hormones Phase 3
45 Hormone Antagonists Phase 3
46 Anti-Inflammatory Agents Phase 3
47 Analgesics Phase 3
48 Citrate Phase 3
49 Analgesics, Non-Narcotic Phase 3
50 Cyclooxygenase Inhibitors Phase 3

Interventional clinical trials:

(show top 50) (show all 247)
# Name Status NCT ID Phase Drugs
1 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
2 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
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 A Prospective, Single-center Clinical Trial of Pegylated Interferon Alfa-2b Versus Interferon Alfa Therapy in the Treatment of Childhood Essential Thrombocythemia Recruiting NCT04226950 Phase 4 Recombinant Interferon Alpha;Pegylated interferon alfa-2b
5 Open Label, Multi-center, Phase IV Study of Ruxolitinib or Ruxolitinib and Panobinostat Combination, for Patients Who Have Completed Prior Global Novartis or Incyte Sponsored Studies Recruiting NCT02386800 Phase 4 ruxolitinib tablets or oral pediatric formulation, panobinostat capsules;ruxolitinib tablets or oral pediatric formulation
6 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
7 Danish Study of Low-dose Interferon Alpha Versus Hydroxyurea in the Treatment of Philadelphia Chromosome Negative (Ph-)Chronic Myeloid Neoplasms. Unknown status NCT01387763 Phase 3 PegIntron;Pegasys;PegIntron;Pegasys;Hydrea
8 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
9 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
10 Does Hypericum Reduce Fatigue in Cancer Patients on Chemotherapy? A Randomized, Double-Blind, Placebo-Controlled Clinical Trial Completed NCT00005805 Phase 3
11 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
12 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
13 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
14 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
15 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
16 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
17 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
18 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
19 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
20 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)
21 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
22 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
23 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
24 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
25 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
26 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 Completed NCT02101268 Phase 3 Momelotinib;Best Available Therapy (BAT)
27 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) Completed NCT01969838 Phase 3 Momelotinib;Ruxolitinib;Placebo to match momelotinib;Placebo to match ruxolitinib
28 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
29 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
30 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
31 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)
32 A Phase 3, Open-Label, Multicenter, Randomized, Active-controlled Study to Assess Pharmacokinetics and Compare the Efficacy, Safety, and Tolerability of P1101 vs Anagrelide as Second Line Therapy for Essential Thrombocythemia Recruiting NCT04285086 Phase 3
33 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)
34 A Phase 3b, Multicenter, Single-Arm, Open-Label Efficacy and Safety Study of Fedratinib 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 Including a Sub-study With Concomitant Luspatercept for Subjects With Anemia Recruiting NCT03755518 Phase 3 FEDRATINIB;Luspatercept
35 A Phase 2/3 Randomized, Controlled, Open-Label Study of KRT 232 in Subjects With Primary Myelofibrosis (PMF), Post Polycythemia Vera MF (Post-PV-MF), Or Post Essential Thrombocythemia MF (Post-ET-MF) Who Are Relapsed or Refractory to Janus Kinase (JAK) Inhibitor Treatment Recruiting NCT03662126 Phase 2, Phase 3 KRT-232;Best Available Therapy (BAT)
36 A Randomized, Controlled Phase 3 Study of Pacritinib Versus Physician's Choice in Patients With Primary Myelofibrosis, Post Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis With Severe Thrombocytopenia (Platelet Count <50,000/μL)(PACIFICA) Recruiting NCT03165734 Phase 3 Pacritinib;Physician's Choice medications
37 French Aspirin Study in Essential Thrombocythemia: an Open and Randomized Study Recruiting NCT02611973 Phase 3 Hydroxyurea treatment (HU)
38 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 Recruiting NCT04173494 Phase 3 Momelotinib;Danazol;Placebo to match momelotinib;Placebo to match danazol
39 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of the Combination of PI3Kδ Inhibitor Parsaclisib and Ruxolitinib in Participants With Myelofibrosis Recruiting NCT04551066 Phase 3 parsaclisib;ruxolitinib;placebo
40 A Phase 3, Randomized, Double-blind, Active-Control Study of CPI-0610 and Ruxolitinib vs. Placebo and Ruxolitinib in JAKi Treatment Naive MF Patients Recruiting NCT04603495 Phase 3 CPI-0610;Ruxolitinib;Placebo
41 A Randomized, Double-Blind, Placebo-Controlled Study of the PI3Kδ Inhibitor Parsaclisib Plus Ruxolitinib in Participants With Myelofibrosis Who Have Suboptimal Response to Ruxolitinib Recruiting NCT04551053 Phase 3 parsaclisib;ruxolitinib;placebo
42 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
43 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
44 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
45 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
46 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
47 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)
48 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
49 A Phase II Trial of Non-Myeloablative Conditioning and Transplantation of Partially HLA-Mismatched Bone Marrow for Patients With Hematologic Malignancies Completed NCT00134004 Phase 2 cyclophosphamide;fludarabine phosphate;mycophenolate mofetil;tacrolimus
50 Oral Beclomethasone Dipropionate Capsules for Treatment of Intestinal Graft-Versus-Host Disease: Compassionate Use in Patients With Contraindictions to High-Dose Immunosuppressive Therapy Completed NCT00010283 Phase 1, Phase 2 beclomethasone dipropionate

Search NIH Clinical Center for Essential Thrombocythemia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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

Anatomical Context for Essential Thrombocythemia

MalaCards organs/tissues related to Essential Thrombocythemia:

40
Bone Marrow, Myeloid, Bone, Spleen, Endothelial, Neutrophil, Liver

Publications for Essential Thrombocythemia

Articles related to Essential Thrombocythemia:

(show top 50) (show all 3690)
# Title Authors PMID Year
1
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 61 6
24325359 2013
2
Somatic mutations of calreticulin in myeloproliferative neoplasms. 61 6
24325356 2013
3
MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. 6 61
18451306 2008
4
Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene. 6 61
9694695 1998
5
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. 6
29590070 2018
6
The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders. 6
28484264 2017
7
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 6
27651169 2016
8
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. 6
20404132 2010
9
Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. 6
20151976 2010
10
Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia. 6
19608689 2009
11
MicroRNA expression profiling of megakaryocytes in primary myelofibrosis and essential thrombocythemia. 47 61
19811223 2009
12
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 6
19553636 2009
13
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. 6
18528423 2008
14
Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways. 6
15705783 2005
15
Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. 6
10583217 1999
16
An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. 6
9425899 1998
17
Familial thrombocytosis. 6
7772529 1995
18
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
19
Mutational analysis in BCR-ABL-negative classic myeloproliferative neoplasms: impact on prognosis and therapeutic choices. 61 54
20214447 2010
20
JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. 61 54
19643476 2010
21
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. 61 54
19274616 2010
22
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
23
Is the absence of JAK2 mutation a risk factor for bleeding in essential thrombocythemia? An analysis of 106 patients. 61 54
20104275 2010
24
Activated STAT1 and STAT5 transcription factors in extramedullary hematopoietic tissue in a polycythemia vera patient carrying the JAK2 V617F mutation. 54 61
20013324 2010
25
The influence of low-dose aspirin and hydroxyurea on platelet-leukocyte interactions in patients with essential thrombocythemia. 61 54
19741509 2009
26
In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm. 54 61
19541820 2009
27
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
28
Identification of a novel inhibitor of JAK2 tyrosine kinase by structure-based virtual screening. 61 54
19447617 2009
29
Significant increase in the apparent incidence of essential thrombocythemia related to new WHO diagnostic criteria: a population-based study. 61 54
19377078 2009
30
The mutant JAK2 allele burden in children with essential thrombocythemia. 54 61
19208099 2009
31
[Summary of pathophysiology and diagnosis of patients with platelet abnormality]. 54 61
19522256 2009
32
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. 61 54
19287382 2009
33
High resolution melting analysis for JAK2 Exon 14 and Exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms. 61 54
19225136 2009
34
Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. 61 54
19175693 2009
35
Oncogenic signals as treatment targets in classic myeloproliferative neoplasms. 54 61
19147089 2009
36
Therapeutic potential of JAK2 inhibitors. 54 61
20008249 2009
37
Molecular and genetic bases of myeloproliferative disorders: questions and perspectives. 61 54
19778861 2009
38
Correlation of JAK2 V617F mutant allele quantitation with clinical presentation and type of chronic myeloproliferative neoplasm. 61 54
19880761 2009
39
Consistent up-regulation of Stat3 Independently of Jak2 mutations in a new murine model of essential thrombocythemia. 61 54
19118011 2009
40
Proteomic study of the impact of the JAK2-V617F mutation on the phenotype of essential thrombocythemia. 54 61
18838204 2008
41
HLA-B*2709 and lack of susceptibility to sacroiliitis: further support from the clinic. 61 54
19210881 2008
42
Interferon-alpha therapy in bcr-abl-negative myeloproliferative neoplasms. 54 61
18843285 2008
43
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
44
Epigenetic alteration of SOCS family members is a possible pathogenetic mechanism in JAK2 wild type myeloproliferative diseases. 61 54
18623127 2008
45
Recurrent der(9;18) in essential thrombocythemia with JAK2 V617F is highly linked to myelofibrosis development. 61 54
18786436 2008
46
Megakaryopoiesis and platelet function in polycythemia vera and essential thrombocythemia patients with JAK2 V617F mutation. 61 54
18612778 2008
47
The hematopoietic stem cell compartment of JAK2V617F-positive myeloproliferative disorders is a reflection of disease heterogeneity. 54 61
18612101 2008
48
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
49
Familial essential thrombocythemia with spontaneous megakaryocyte colony formation and acquired JAK2 mutations. 61 54
18496561 2008
50
Pharmacotherapy of essential thrombocythemia. 54 61
18570601 2008

Variations for Essential Thrombocythemia

ClinVar genetic disease variations for Essential Thrombocythemia:

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THPO THPO, IVS3, G-C, +1 SNV Pathogenic 9508 GRCh37:
GRCh38:
2 THPO THPO, 1-BP DEL, 3252G Deletion Pathogenic 9509 GRCh37:
GRCh38:
3 THPO THPO, 516G-T SNV Pathogenic 9510 GRCh37:
GRCh38:
4 CUX2 , SH2B3 NM_005475.2(SH2B3):c.622G>C (p.Glu208Gln) SNV Pathogenic 30445 rs202080221 GRCh37: 12:111856571-111856571
GRCh38: 12:111418767-111418767
5 CALR NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) Deletion Pathogenic 97006 rs1555760738 GRCh37: 19:13054565-13054616
GRCh38: 19:12943751-12943802
6 MPL NM_005373.2(MPL):c.413del (p.Ile138fs) Deletion Pathogenic 528088 rs1343123940 GRCh37: 1:43804963-43804963
GRCh38: 1:43339292-43339292
7 SH2B3 NM_001291424.1(SH2B3):c.577G>A (p.Glu193Lys) SNV Pathogenic 619973 rs148636776 GRCh37: 12:111885295-111885295
GRCh38: 12:111447491-111447491
8 THPO NM_000460.4(THPO):c.-47del Deletion Pathogenic 872935 GRCh37:
GRCh38:
9 CALR NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs) Insertion Pathogenic 1028735 GRCh37: 19:13054627-13054628
GRCh38: 19:12943813-12943814
10 THPO NM_000460.4(THPO):c.753C>T (p.His251=) SNV Pathogenic 1034226 GRCh37: 3:184090610-184090610
GRCh38: 3:184372822-184372822
11 THPO NM_000460.4(THPO):c.13+2T>C SNV Likely pathogenic 975832 GRCh37: 3:184094033-184094033
GRCh38: 3:184376245-184376245
12 MPL NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) SNV Likely pathogenic 14163 rs121913614 GRCh37: 1:43814979-43814979
GRCh38: 1:43349308-43349308
13 overlap with 9 genes NC_000014.8:g.96163103_96857129dup Duplication Likely pathogenic 208237 GRCh37: 14:96163103-96857129
GRCh38: 14:95696766-96390792
14 overlap with 9 genes NC_000014.8:g.96163103_96857129dup Duplication Likely pathogenic 208237 GRCh37: 14:96163103-96857129
GRCh38: 14:95696766-96390792
15 THPO NM_000460.4(THPO):c.579C>T (p.Asn193=) SNV Conflicting interpretations of pathogenicity 764293 rs202166253 GRCh37: 3:184090784-184090784
GRCh38: 3:184372996-184372996
16 THPO NM_000460.4(THPO):c.518T>C (p.Val173Ala) SNV Uncertain significance 281426 rs768776540 GRCh37: 3:184090845-184090845
GRCh38: 3:184373057-184373057
17 MPL NM_005373.2(MPL):c.1467C>T (p.Thr489=) SNV Uncertain significance 297407 rs759161511 GRCh37: 1:43814672-43814672
GRCh38: 1:43349001-43349001
18 THPO NM_000460.4(THPO):c.183G>T (p.Leu61=) SNV Uncertain significance 497712 rs200666378 GRCh37: 3:184093348-184093348
GRCh38: 3:184375560-184375560
19 THPO NM_000460.4(THPO):c.13G>A (p.Glu5Lys) SNV Uncertain significance 931394 GRCh37: 3:184094035-184094035
GRCh38: 3:184376247-184376247
20 SH2B3 NM_001291424.1(SH2B3):c.592G>A (p.Glu198Lys) SNV Uncertain significance 501686 rs72650673 GRCh37: 12:111885310-111885310
GRCh38: 12:111447506-111447506
21 THPO NM_000460.4(THPO):c.791_794del (p.Pro264fs) Deletion Uncertain significance 632414 rs760659440 GRCh37: 3:184090569-184090572
GRCh38: 3:184372781-184372784
22 THPO NM_001290003.1(THPO):c.98C>T (p.Pro33Leu) SNV Uncertain significance 801004 rs1208732776 GRCh37: 3:184096040-184096040
GRCh38: 3:184378252-184378252
23 THPO NM_000460.4(THPO):c.808G>A (p.Gly270Arg) SNV Uncertain significance 903383 GRCh37: 3:184090555-184090555
GRCh38: 3:184372767-184372767
24 THPO NM_000460.4(THPO):c.796C>T (p.Arg266Cys) SNV Uncertain significance 903384 GRCh37: 3:184090567-184090567
GRCh38: 3:184372779-184372779
25 THPO NM_000460.4(THPO):c.740T>C (p.Leu247Pro) SNV Uncertain significance 903385 GRCh37: 3:184090623-184090623
GRCh38: 3:184372835-184372835
26 THPO NM_000460.4(THPO):c.14-11C>T SNV Uncertain significance 899769 GRCh37: 3:184093814-184093814
GRCh38: 3:184376026-184376026
27 THPO NM_000460.4(THPO):c.*480G>A SNV Uncertain significance 900855 GRCh37: 3:184089821-184089821
GRCh38: 3:184372033-184372033
28 THPO NM_000460.4(THPO):c.*366G>C SNV Uncertain significance 900856 GRCh37: 3:184089935-184089935
GRCh38: 3:184372147-184372147
29 THPO NM_000460.4(THPO):c.*191T>G SNV Uncertain significance 900857 GRCh37: 3:184090110-184090110
GRCh38: 3:184372322-184372322
30 THPO NM_000460.4(THPO):c.*108C>T SNV Uncertain significance 900858 GRCh37: 3:184090193-184090193
GRCh38: 3:184372405-184372405
31 THPO NM_000460.4(THPO):c.*27A>G SNV Uncertain significance 902534 GRCh37: 3:184090274-184090274
GRCh38: 3:184372486-184372486
32 THPO NM_000460.4(THPO):c.963C>T (p.His321=) SNV Uncertain significance 902535 GRCh37: 3:184090400-184090400
GRCh38: 3:184372612-184372612
33 MPL NM_005373.2(MPL):c.844G>A (p.Gly282Arg) SNV Uncertain significance 240157 rs878854770 GRCh37: 1:43805788-43805788
GRCh38: 1:43340117-43340117
34 MPL NM_005373.2(MPL):c.92T>C (p.Leu31Pro) SNV Uncertain significance 240158 rs878854771 GRCh37: 1:43803782-43803782
GRCh38: 1:43338111-43338111
35 MPL NM_005373.2(MPL):c.*86C>T SNV Uncertain significance 297412 rs777930147 GRCh37: 1:43818529-43818529
GRCh38: 1:43352858-43352858
36 MPL NM_005373.2(MPL):c.1331C>A (p.Ala444Asp) SNV Uncertain significance 297405 rs886046351 GRCh37: 1:43814536-43814536
GRCh38: 1:43348865-43348865
37 THPO NM_000460.4(THPO):c.-215T>A SNV Uncertain significance 344377 rs886058219 GRCh37: 3:184095932-184095932
GRCh38: 3:184378144-184378144
38 MPL NM_005373.2(MPL):c.*871G>A SNV Uncertain significance 297423 rs540648773 GRCh37: 1:43819314-43819314
GRCh38: 1:43353643-43353643
39 MPL NM_005373.2(MPL):c.*1216A>G SNV Uncertain significance 297432 rs886046356 GRCh37: 1:43819659-43819659
GRCh38: 1:43353988-43353988
40 THPO NM_000460.4(THPO):c.889A>G (p.Thr297Ala) SNV Uncertain significance 344370 rs530613857 GRCh37: 3:184090474-184090474
GRCh38: 3:184372686-184372686
41 MPL NM_005373.2(MPL):c.*1112G>A SNV Uncertain significance 297428 rs543515941 GRCh37: 1:43819555-43819555
GRCh38: 1:43353884-43353884
42 MPL NM_005373.2(MPL):c.196C>T (p.Leu66=) SNV Uncertain significance 297398 rs886046349 GRCh37: 1:43803886-43803886
GRCh38: 1:43338215-43338215
43 THPO NM_000460.4(THPO):c.-123C>T SNV Uncertain significance 344375 rs535707667 GRCh37: 3:184094170-184094170
GRCh38: 3:184376382-184376382
44 THPO NM_000460.4(THPO):c.671G>A (p.Gly224Glu) SNV Uncertain significance 344371 rs886058218 GRCh37: 3:184090692-184090692
GRCh38: 3:184372904-184372904
45 MPL NM_005373.2(MPL):c.173C>T (p.Ala58Val) SNV Uncertain significance 412015 rs6087 GRCh37: 1:43803863-43803863
GRCh38: 1:43338192-43338192
46 MPL NM_005373.2(MPL):c.212G>A (p.Arg71Gln) SNV Uncertain significance 458371 rs368753117 GRCh37: 1:43803902-43803902
GRCh38: 1:43338231-43338231
47 MPL NM_005373.2(MPL):c.1744_1745del (p.Leu582fs) Deletion Uncertain significance 458369 rs770402221 GRCh37: 1:43818279-43818280
GRCh38: 1:43352608-43352609
48 MPL NM_005373.2(MPL):c.1473G>C (p.Trp491Cys) SNV Uncertain significance 571857 rs121913613 GRCh37: 1:43814938-43814938
GRCh38: 1:43349267-43349267
49 MPL NM_005373.2(MPL):c.1460C>T (p.Thr487Ile) SNV Uncertain significance 576110 rs770428240 GRCh37: 1:43814665-43814665
GRCh38: 1:43348994-43348994
50 MPL NM_005373.2(MPL):c.1805T>C (p.Met602Thr) SNV Uncertain significance 582171 rs770770219 GRCh37: 1:43818340-43818340
GRCh38: 1:43352669-43352669

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
13.49 TP53 THPO STAT5B STAT5A PPBP PF4
3
Show member pathways
13.41 TP53 THPO STAT5B STAT5A PPBP MPL
4
Show member pathways
13.36 TP53 THPO STAT5B STAT5A PPBP PF4
5
Show member pathways
13.3 VWF TP53 STAT5B STAT5A JAK2 IL3
6
Show member pathways
13.16 TP53 STAT5B STAT5A JAK2 IFNA2 IFNA1
7
Show member pathways
12.95 VWF TP53 JAK2 IL3 IFNA2 IFNA1
8
Show member pathways
12.85 VWF TP53 THPO THBD SH2B3 PPBP
9
Show member pathways
12.83 STAT5B STAT5A PPBP PF4 JAK2 CALR
10 12.77 TP53 JAK2 IFNA2 IFNA1 CALR
11
Show member pathways
12.75 TP53 STAT5B STAT5A JAK2 IFNA2 IFNA1
12
Show member pathways
12.74 THPO STAT5B STAT5A MPL JAK2
13 12.65 TP53 STAT5B STAT5A JAK2 IL3 IFNA2
14 12.52 STAT5B STAT5A MPL JAK2 IL3 IFNA1
15
Show member pathways
12.36 TP53 STAT5B STAT5A JAK2
16 12.3 TP53 STAT5B STAT5A CALR
17
Show member pathways
12.29 STAT5B STAT5A JAK2 IL3
18
Show member pathways
12.22 TP53 THPO PPBP IL3 IFNA2 IFNA1
19
Show member pathways
12.18 STAT5B STAT5A JAK2 IFNA2 IFNA1
20
Show member pathways
12.13 VWF THBD PF4 CD177
21 12.1 TP53 SH2B3 JAK2 IFNA2 IFNA1
22
Show member pathways
11.94 STAT5B STAT5A SH2B3 JAK2 IL3 EPO
23
Show member pathways
11.9 STAT5B STAT5A JAK2
24 11.88 THBD STAT5B STAT5A JAK2
25 11.86 THPO IL3 EPO
26
Show member pathways
11.86 VWF THPO MPL
27 11.83 THPO STAT5B STAT5A MPL JAK2
28
Show member pathways
11.82 STAT5B STAT5A JAK2
29 11.82 JAK2 IFNA2 IFNA1
30
Show member pathways
11.8 STAT5B STAT5A JAK2 IL3
31
Show member pathways
11.79 STAT5B STAT5A SH2B3 JAK2 EPO
32 11.77 TP53 STAT5B STAT5A
33
Show member pathways
11.73 STAT5B STAT5A JAK2
34 11.72 STAT5B STAT5A JAK2
35 11.7 THPO SH2B3 MPL IL3 IFNA2 EPO
36 11.69 STAT5B STAT5A JAK2
37
Show member pathways
11.67 THPO STAT5B STAT5A MPL JAK2 IL3
38 11.64 STAT5B STAT5A JAK2
39 11.62 STAT5B STAT5A JAK2
40 11.51 STAT5B STAT5A JAK2
41 11.49 STAT5A IL3 EPO
42 11.48 STAT5B STAT5A JAK2
43
Show member pathways
11.39 STAT5B STAT5A JAK2
44
Show member pathways
11.22 STAT5B STAT5A JAK2
45 11.01 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 VWF THPO THBD 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 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.96 TP53 PF4 MIR223 CUX2 CALR
2 positive regulation of cell proliferation GO:0008284 9.93 THPO STAT5B JAK2 IL3 EPO CALR
3 regulation of cell proliferation GO:0042127 9.81 TP53 STAT5B STAT5A PF4
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.75 TP53 JAK2 IL3
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 JAK2 IL3 IFNA2 EPO
6 defense response GO:0006952 9.63 STAT5B STAT5A PPBP PF4 IFNA2 IFNA1
7 JAK-STAT cascade GO:0007259 9.61 STAT5B STAT5A JAK2
8 megakaryocyte development GO:0035855 9.58 THPO SH2B3
9 interleukin-15-mediated signaling pathway GO:0035723 9.57 STAT5B STAT5A
10 interleukin-2-mediated signaling pathway GO:0038110 9.55 STAT5B STAT5A
11 response to salt stress GO:0009651 9.54 TP53 EPO
12 interleukin-9-mediated signaling pathway GO:0038113 9.52 STAT5B STAT5A
13 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.5 STAT5B STAT5A JAK2
14 blood coagulation GO:0007596 9.5 VWF THBD SH2B3 JAK2 IFNA2 IFNA1
15 neutrophil homeostasis GO:0001780 9.49 SH2B3 MPL
16 taurine metabolic process GO:0019530 9.48 STAT5B STAT5A
17 thrombopoietin-mediated signaling pathway GO:0038163 9.43 THPO SH2B3 MPL
18 monocyte homeostasis GO:0035702 9.4 SH2B3 MPL
19 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 protease binding GO:0002020 9.43 VWF TP53 CD177
2 chaperone binding GO:0051087 9.33 VWF TP53 CALR
3 cytokine activity GO:0005125 9.17 THPO PPBP PF4 IL3 IFNA2 IFNA1
4 CXCR chemokine receptor binding GO:0045236 8.96 PPBP PF4

Sources for Essential Thrombocythemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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