ET
MCID: ESS003
MIFTS: 70

Essential Thrombocythemia (ET)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Essential Thrombocythemia

MalaCards integrated aliases for Essential Thrombocythemia:

Name: Essential Thrombocythemia 11 19 42 58 75 28 5 14 16
Essential Thrombocytosis 19 42 58 75
Hemorrhagic Thrombocythemia 11 19
Hereditary Thrombocythemia 11 58
Idiopathic Thrombocythemia 19 5
Thrombocythemia, Essential 43 71
Familial Thrombocytosis 11 58
Primary Thrombocythemia 19 42
Primary Thrombocytosis 11 42
Essential Thrombocythaemia 11
Thrombocythemia Essential 53
Familial Thrombocythemia 58
Et 58

Characteristics:


Inheritance:

Essential Thrombocythemia: Multigenic/multifactorial 58
Familial Thrombocytosis: Autosomal dominant,X-linked recessive 58

Prevelance:

1-5/10000 (United States, Sweden) 1-9/100000 (Sweden) 1-9/1000000 (Europe) 58

Age Of Onset:

Essential Thrombocythemia: All ages 58
Familial Thrombocytosis: Childhood 58

Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Essential Thrombocythemia

MedlinePlus Genetics: 42 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.

MalaCards based summary: Essential Thrombocythemia, also known as essential thrombocytosis, is related to thrombocythemia 1 and acquired von willebrand syndrome. 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 Signal Transduction. The drugs Anagrelide and Hydroxyurea 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

GARD: 19 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 genetic change 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 genetic changes that cause the disease is unknown.

Orphanet 58 Essential thrombocythemia: Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.

Familial thrombocytosis: Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

Disease Ontology: 11 A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results in the overproduction of platelets.

Wikipedia: 75 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 544)
# Related Disease Score Top Affiliating Genes
1 thrombocythemia 1 33.2 THPO SH2B3 MPL CUX2 CALR
2 acquired von willebrand syndrome 32.6 VWF JAK2 CALR
3 myeloproliferative neoplasm 32.6 VWF THPO THBD TET2 STAT5B STAT5A
4 polycythemia 32.3 THPO TET2 STAT5B STAT5A SH2B3 PPBP
5 thrombocytosis 32.2 VWF THPO TET2 STAT5B SELP PPBP
6 polycythemia vera 32.1 VWF TP53 THPO THBD TET2 STAT5B
7 splenomegaly 32.0 MPL JAK2 IFNA1 EPO
8 thrombosis 32.0 VWF THBD SELP PPBP PF4 MPL
9 myelofibrosis 31.9 TP53 THPO THBD TET2 STAT5B STAT5A
10 acute leukemia 31.9 THPO STAT5A MPL JAK2 IL3 EPO
11 thrombophilia due to thrombin defect 31.9 VWF THBD SELP PF4
12 erythromelalgia 31.7 THBD PPBP PF4 JAK2 CALR
13 stroke, ischemic 31.6 VWF THBD SELP PPBP PF4
14 myelodysplastic syndrome 31.5 TP53 THPO TET2 STAT5B STAT5A MPL
15 leukemia, chronic myeloid 31.5 TP53 THPO TET2 STAT5B STAT5A SELP
16 leukemia, acute myeloid 31.5 TP53 THPO TET2 STAT5B STAT5A MPL
17 acute myocardial infarction 31.4 VWF THBD SELP PPBP PF4
18 portal vein thrombosis 31.3 VWF THPO THBD PF4 MPL JAK2
19 thrombophilia 31.3 VWF THBD SELP PPBP PF4 JAK2
20 budd-chiari syndrome 31.3 VWF MPL JAK2 CALR
21 thrombocytopenia 31.3 VWF THPO THBD SELP PPBP PF4
22 thrombocytopenic purpura, autoimmune 31.3 THPO SELP PF4 MPL
23 refractory anemia 31.2 TET2 MPL EPO
24 thrombocytopenia due to platelet alloimmunization 31.2 VWF THPO SELP PF4 MPL
25 acquired polycythemia 31.1 MPL JAK2 EPO CALR
26 myeloma, multiple 31.1 TP53 TET2 STAT5A SH2B3 JAK2 IL3
27 purpura 31.1 VWF THPO THBD SELP PF4 MPL
28 qualitative platelet defect 31.1 VWF THPO SELP
29 leukemia, chronic lymphocytic 31.1 TP53 THPO TET2 STAT5B STAT5A MIR223
30 deficiency anemia 31.1 VWF TP53 THPO SH2B3 PPBP MPL
31 hemorrhagic disease 31.1 VWF THPO THBD PPBP PF4
32 blood platelet disease 31.1 VWF TP53 THPO THBD TET2 SELP
33 raynaud disease 31.0 VWF THBD PF4
34 vascular disease 31.0 VWF TP53 THBD SELP PPBP
35 myocardial infarction 31.0 VWF TP53 THBD SELP PPBP PF4
36 acute megakaryocytic leukemia 31.0 TP53 THPO PF4 MPL JAK2 IL3
37 hematologic cancer 31.0 THPO STAT5B STAT5A MPL MIR223 JAK2
38 hypereosinophilic syndrome 31.0 STAT5B JAK2 IL3 IFNA1
39 leukemia, acute lymphoblastic 31.0 TP53 THPO STAT5B MPL MIR223 JAK2
40 neutrophilia, hereditary 31.0 MIR223 JAK2 IL3
41 aplastic anemia 31.0 TP53 THPO MPL IL3 EPO
42 pancytopenia 30.9 TP53 THPO MPL IL3 EPO
43 myelodysplastic/myeloproliferative neoplasm 30.9 TET2 STAT5B STAT5A JAK2 CALR
44 intermittent claudication 30.9 VWF SELP PF4
45 mastocytosis 30.9 TET2 STAT5B STAT5A JAK2 IL3
46 intracranial thrombosis 30.8 VWF SELP PF4
47 chronic myelomonocytic leukemia 30.8 TP53 TET2 STAT5B STAT5A SH2B3 MPL
48 hemoglobinuria 30.7 THPO THBD SELP MPL EPO
49 systemic mastocytosis 30.7 TET2 STAT5A JAK2
50 myelophthisic anemia 30.7 TET2 SH2B3 MPL JAK2 EPO CALR

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 30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myocardial infarction 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001658
2 venous thrombosis 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0004936
3 transient ischemic attack 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0002326
4 paresthesia 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0003401
5 chest pain 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0100749
6 prolonged bleeding time 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003010
7 abnormal platelet morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011875
8 arterial thrombosis 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0004420
9 abnormal bleeding 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001892
10 amaurosis fugax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100576
11 increased megakaryocyte count 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005513
12 thrombocytosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001894
13 hyperhidrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000975
14 splenomegaly 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001744
15 headache 58 30 Frequent (33%) Frequent (79-30%)
HP:0002315
16 pruritus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000989
17 peripheral arterial stenosis 30 Frequent (33%) HP:0004950
18 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
19 dysarthria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001260
20 myelodysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002863
21 vertigo 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002321
22 weight loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001824
23 acute leukemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002488
24 chronic myelogenous leukemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005506
25 pulmonary arterial hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002092
26 syncope 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001279
27 visual field defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001123
28 myelofibrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011974
29 acute myeloid leukemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004808
30 abnormality of thrombocytes 58 Very frequent (99-80%)
31 cerebral ischemia 58 Frequent (79-30%)
32 abnormality of the cerebral vasculature 58 Very frequent (99-80%)
33 abnormality of bone marrow cell morphology 58 Very frequent (99-80%)
34 spontaneous abortion 58 Occasional (29-5%)
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 homeostasis/metabolism MP:0005376 10.17 CALR EPO IL3 JAK2 MPL PF4
2 cellular MP:0005384 10.16 CALR CUX2 EPO IL3 JAK2 MIR223
3 immune system MP:0005387 10.09 CD177 EPO IFNA1 IL3 JAK2 MIR223
4 liver/biliary system MP:0005370 9.97 EPO JAK2 SELP STAT5A STAT5B TET2
5 respiratory system MP:0005388 9.61 EPO IFNA1 IL3 JAK2 MIR223 SELP
6 hematopoietic system MP:0005397 9.58 CD177 EPO IFNA1 IL3 JAK2 MIR223

Drugs & Therapeutics for Essential Thrombocythemia

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

(show top 50) (show all 167)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anagrelide Approved Phase 4 68475-42-3 2182 135409400
2
Hydroxyurea Approved Phase 4 127-07-1 3657
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
5
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
6 Fibrinolytic Agents Phase 4
7 Platelet Aggregation Inhibitors Phase 4
8 Interferon alpha-2 Phase 4
9 Interferon-alpha Phase 4
10
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4
11
Acetylsalicylic acid Approved, Vet_approved Phase 3 50-78-2 2244
12
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
13
Apixaban Approved Phase 3 503612-47-3 10182969
14
Rivaroxaban Approved Phase 3 366789-02-8 9875401
15
Iron Approved Phase 3 7439-89-6 29936
16
Danazol Approved Phase 3 17230-88-5 28417
17
Lactitol Approved, Investigational Phase 2, Phase 3 585-86-4 157355
18
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
19 Antiviral Agents Phase 3
20 interferons Phase 3
21 Mitogens Phase 3
22 Androgens Phase 2, Phase 3
23 Analgesics Phase 3
24 Antirheumatic Agents Phase 3
25 Antipyretics Phase 3
26 Cyclooxygenase Inhibitors Phase 3
27 Anti-Inflammatory Agents, Non-Steroidal Phase 3
28 Analgesics, Non-Narcotic Phase 3
29 Anti-Inflammatory Agents Phase 3
30 Citrate Phase 3
31 Anticoagulants Phase 3
32 Hormones Phase 3
33 Estrogens Phase 3
34 Estrogen Receptor Antagonists Phase 3
35 Estrogen Antagonists Phase 3
36 Hormone Antagonists Phase 3
37 Hepcidins Phase 3
38 Janus Kinase Inhibitors Phase 3
39
Pomalidomide Approved Phase 1, Phase 2 19171-19-8 134780
40
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
41
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
42
Lenograstim Approved, Investigational Phase 2 135968-09-1
43
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
44
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
45
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
46
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
47
Pembrolizumab Approved Phase 2 1374853-91-4 254741536
48
Aldesleukin Approved Phase 1, Phase 2 110942-02-4
49
Lenalidomide Approved Phase 2 191732-72-6 216326
50
Mirabegron Approved Phase 2 223673-61-8 18319735 9865528

Interventional clinical trials:

(show top 50) (show all 190)
# Name Status NCT ID Phase Drugs
1 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 Completed NCT03232177 Phase 4 Anagre Cap.
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 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
4 A Prospective, Single-center Clinical Trial of Pegylated Interferon Alfa-2b Versus Interferon Alfa Therapy in the Treatment of Childhood and Adolescent Essential Thrombocythemia Recruiting NCT04226950 Phase 4 Recombinant Interferon Alpha;Pegylated interferon alfa-2b
5 A Prospective, Multicenter, Randomized Controlled Clinical Trial of Pegylated Interferon Alfa-2b Versus Interferon Alfa Therapy in the Treatment of Adult Essential Thrombocythemia Recruiting NCT05395507 Phase 4 Recombinant Interferon Alpha;Pegylated interferon alfa-2b
6 French Aspirin Study in Essential Thrombocythemia: an Open and Randomized Study Unknown status NCT02611973 Phase 3 Hydroxyurea treatment (HU)
7 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)
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 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
10 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
11 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)
12 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
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 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
15 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
16 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)
17 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
18 Danish Study of Low-dose Interferon Alpha Versus Hydroxyurea in the Treatment of Philadelphia Chromosome Negative (Ph-)Chronic Myeloid Neoplasms. Completed NCT01387763 Phase 3 PegIntron;Pegasys;Hydrea
19 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
20 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
21 Extension Study of P1101 in Japanese Patients Who Have Completed Phase 2 Single Arm Study in Polycythemia Vera (PV) Patients (Study A19-201) or Phase 3 Study in Essential Thrombocythemia (ET) Patients (Study P1101 ET) Recruiting NCT04655092 Phase 3
22 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 Anagrelide
23 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)
24 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
25 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)
26 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
27 A Phase 3, Randomized, Double-blind, Active-Control Study of Pelabresib (CPI-0610) and Ruxolitinib vs. Placebo and Ruxolitinib in JAKi Treatment Naive MF Patients Recruiting NCT04603495 Phase 3 Pelabresib;Ruxolitinib;Placebo
28 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
29 AVAJAK: Apixaban/Rivaroxaban Versus Aspirin for Primary Prevention of Thrombo-embolic Complications in JAK2V617F-positive Myeloproliferative Neoplasms Recruiting NCT05198960 Phase 3 Direct Oral Anticoagulants;Low-dose aspirin
30 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 Active, not recruiting NCT03755518 Phase 3 FEDRATINIB
31 A Randomized, Double-blind, Phase 3 Study to Evaluate the Activity of Momelotinib (MMB) Versus Danazol (DAN) in Symptomatic, Anemic Subjects With Primary Myelofibrosis (PMF), Post-polycythemia Vera (PV) Myelofibrosis, or Post-essential Thrombocythemia (ET) Myelofibrosis Who Were Previously Treated With JAK Inhibitor Therapy Active, not recruiting NCT04173494 Phase 3 Momelotinib;Danazol;Placebo to match momelotinib;Placebo to match danazol
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 Terminated NCT02962388 Phase 2, Phase 3 Anagrelide;Ruxolitinib (JAKAVI®);IFNα/ PegIFNα
33 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
34 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
35 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
36 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)
37 A Phase II Study of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia. Unknown status NCT00866762 Phase 2 HDAC inhibitor (MK-0683)
38 Dual Vaccine Trial in Myeloproliferative Neoplasms Unknown status NCT04051307 Phase 1, Phase 2 PD-L1 peptide: PD-L1 Long(19-27) Peptide sequence: FMTYWHLLNAFTVTVPKDL;Arginase1 peptide: ArgLong2(169-206) Peptide sequence ISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRL
39 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
40 A Phase 2, Prospective Study Of PRM-151 In Subjects With Primary Myelofibrosis (PMF), Post-Polycythemia Vera MF (Post-PV MF), Or Post-Essential Thrombocythemia MF (Post-ET MF) Completed NCT01981850 Phase 2 Ruxolitinib
41 A Phase 2 Open-Label, Dose-Ranging Study of the Efficacy and Safety of Orally Administered SAR302503 in Japanese Patients With Intermediate-2 or High Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, Post-Essential Thrombocythemia Myelofibrosis With Splenomegaly Completed NCT01692366 Phase 2 SAR302503
42 A Phase 2, Open Label Efficacy and Safety Study of Anagrelide Controlled Release (CR) in Subjects With Thrombocytosis Secondary to Essential Thrombocythemia and Other Myeloproliferative Neoplasms (MPN) Completed NCT02125318 Phase 2 Anagrelide CR
43 A Phase I/II, Prospective, Open-Label Study to Determine the Safety and Efficacy of CC-4047 in Patients With Primary, Post Polycythemia Vera, or Post Essential Thrombocythemia Myelofibrosis® Completed NCT00669578 Phase 1, Phase 2 CC-4047
44 Phase 1/2 Randomized Trial Combination of Ruxolitinib and Peg-interferon Alpha-2a in Patients With Primary Myelofibrosis Post-polycythemia Vera-myelofibrosis or Post-essential Thrombocythemia-myelofibrosis Completed NCT02742324 Phase 1, Phase 2 Ruxolotinib;peg-IFN alpha -2a
45 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
46 A Phase I/II, Open-Label, Dose-Escalation Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Orally-Administered CYT387 in Primary Myelofibrosis or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis. Completed NCT00935987 Phase 1, Phase 2 CYT387
47 Open-label, Phase II Clinical Trial of Aplidin® (Plitidepsin) in Patients With Primary Myelofibrosis (PMF) and Post Polycythemia Vera/Essential Thrombocythemia (Post-PV/ET) Myelofibrosis Completed NCT01149681 Phase 2 APLIDIN (plitidepsin)
48 An Open-Label, Multiple Simon 2-Stage Study of Itacitinib Administered Orally to Subjects With Primary Myelofibrosis (PMF), Post Polycythemia Vera Myelofibrosis (PPV-MF) or Post Essential Thrombocythemia Myelofibrosis (PET-MF) Completed NCT01633372 Phase 2 itacitinib
49 A Phase II, Prospective, Open Label Study (PO-MMM-PI-0011) to Determine the Safety and Efficacy of Pomalidomide (CC-4047) in Subjects With Primary, Post Polycythemia Vera, or Post Essential Thrombocythemia Myelofibrosis (PMF; Post-PV MF, or Post-ET MF) Completed NCT00946270 Phase 2 CC-4047;Prednisone
50 Phase 2 Study: An Open-Label, Randomized, Phase 2 Dose-Finding Study of Pacritinib in Patients With Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post- Essential Thrombocythemia Myelofibrosis Previously Treated With Ruxolitinib Completed NCT04884191 Phase 2 Pacritinib

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 28

Anatomical Context for Essential Thrombocythemia

Organs/tissues related to Essential Thrombocythemia:

MalaCards : Bone Marrow, Myeloid, Bone, Spleen, Skin, Brain, Liver

Publications for Essential Thrombocythemia

Articles related to Essential Thrombocythemia:

(show top 50) (show all 4985)
# Title Authors PMID Year
1
A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis. 62 5
32430933 2020
2
Somatic mutations of calreticulin in myeloproliferative neoplasms. 62 5
24325356 2013
3
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. 62 5
24325359 2013
4
A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia. 62 5
22194398 2011
5
Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. 62 5
20151976 2010
6
Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia. 62 5
19608689 2009
7
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 62 5
19553636 2009
8
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. 62 5
19036112 2009
9
MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. 62 5
18451306 2008
10
Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. 62 5
10583217 1999
11
Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene. 62 5
9694695 1998
12
An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. 62 5
9425899 1998
13
Familial thrombocytosis. 62 5
7772529 1995
14
Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing. 5
30886832 2019
15
Pathogenic Germline Variants in 10,389 Adult Cancers. 5
29625052 2018
16
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. 5
29590070 2018
17
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. 5
28859041 2018
18
The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders. 5
28484264 2017
19
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 5
27651169 2016
20
Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies. 5
26854587 2016
21
Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene. 5
26316487 2015
22
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 5
25538044 2015
23
Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia. 5
24438083 2014
24
Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature. 5
24119002 2014
25
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. 5
23625800 2013
26
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. 5
22180433 2012
27
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 5
21659346 2011
28
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 5
21489838 2011
29
CAMT in a female with developmental delay, facial malformations and central nervous system anomalies. 5
21225925 2011
30
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. 5
20404132 2010
31
F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents. 5
20188141 2010
32
MicroRNA expression profiling of megakaryocytes in primary myelofibrosis and essential thrombocythemia. 62 46
19811223 2009
33
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 5
19302922 2009
34
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. 5
18528423 2008
35
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 5
18422784 2008
36
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. 5
18240171 2008
37
Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations. 5
18090929 2007
38
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 5
17666371 2007
39
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
40
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 5
16470591 2006
41
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
42
Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. 5
16219544 2005
43
Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways. 5
15705783 2005
44
Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia. 5
11972523 2002
45
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 5
11133753 2001
46
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). 5
11071383 2000
47
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 5
10971406 2000
48
Statistical features of human exons and their flanking regions. 5
9536098 1998
49
Thrombocytopenia in c-mpl-deficient mice. 5
8073287 1994
50
The effect of furosemide on the renal damage induced by toxic mushroom Cortinarius speciosissimus in the rat. 5
971406 1976

Variations for Essential Thrombocythemia

ClinVar genetic disease variations for Essential Thrombocythemia:

5 (show top 50) (show all 356)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 THPO NM_000460.4(THPO):c.13+1G>C SNV Pathogenic
9508 GRCh37: 3:184094034-184094034
GRCh38: 3:184376246-184376246
2 THPO NM_000460.4(THPO):c.-31G>T SNV Pathogenic
9510 GRCh37: 3:184094078-184094078
GRCh38: 3:184376290-184376290
3 CALR NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) DEL Pathogenic
97006 rs1555760738 GRCh37: 19:13054565-13054616
GRCh38: 19:12943751-12943802
4 THPO NM_000460.4(THPO):c.-47del DEL Pathogenic
872935 rs1714397896 GRCh37: 3:184094094-184094094
GRCh38: 3:184376306-184376306
5 SH2B3 NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) SNV Pathogenic
619973 rs148636776 GRCh37: 12:111885295-111885295
GRCh38: 12:111447491-111447491
6 CALR NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs) INSERT Pathogenic
1028735 rs765476509 GRCh37: 19:13054627-13054628
GRCh38: 19:12943813-12943814
7 MPL NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) SNV Pathogenic
134819 rs369156948 GRCh37: 1:43817942-43817942
GRCh38: 1:43352271-43352271
8 MPL NM_005373.3(MPL):c.842del (p.Pro281fs) DEL Pathogenic
1368759 GRCh37: 1:43805785-43805785
GRCh38: 1:43340114-43340114
9 MPL NM_005373.3(MPL):c.1346dup (p.Glu450fs) DUP Pathogenic
1382942 GRCh37: 1:43814550-43814551
GRCh38: 1:43348879-43348880
10 MPL NM_005373.3(MPL):c.605dup (p.Ala203fs) DUP Pathogenic
1381492 GRCh37: 1:43805154-43805155
GRCh38: 1:43339483-43339484
11 MPL NM_005373.3(MPL):c.972_973del (p.Asp326fs) DEL Pathogenic
1395269 GRCh37: 1:43806176-43806177
GRCh38: 1:43340505-43340506
12 MPL NM_005373.3(MPL):c.478G>T (p.Glu160Ter) SNV Pathogenic
1416785 GRCh37: 1:43805028-43805028
GRCh38: 1:43339357-43339357
13 MPL NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) SNV Pathogenic
1453832 GRCh37: 1:43814636-43814636
GRCh38: 1:43348965-43348965
14 MPL NM_005373.3(MPL):c.1532_1535del (p.Leu511fs) DEL Pathogenic
1456884 GRCh37: 1:43814997-43815000
GRCh38: 1:43349326-43349329
15 MPL NM_005373.3(MPL):c.94del (p.Ala32fs) DEL Pathogenic
1456793 GRCh37: 1:43803783-43803783
GRCh38: 1:43338112-43338112
16 MPL NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer) DEL Pathogenic
1456841 GRCh37: 1:43812601-43812601
GRCh38: 1:43346930-43346930
17 MPL NM_005373.3(MPL):c.189C>G (p.Tyr63Ter) SNV Pathogenic
1457605 GRCh37: 1:43803879-43803879
GRCh38: 1:43338208-43338208
18 MPL NC_000001.10:g.(?_43800988)_(43803797_?)del DEL Pathogenic
1458516 GRCh37: 1:43800988-43803797
GRCh38:
19 MPL NM_005373.3(MPL):c.1378C>T (p.Gln460Ter) SNV Pathogenic
1442900 GRCh37: 1:43814583-43814583
GRCh38: 1:43348912-43348912
20 MPL NM_005373.3(MPL):c.1219G>T (p.Glu407Ter) SNV Pathogenic
1455725 GRCh37: 1:43812516-43812516
GRCh38: 1:43346845-43346845
21 MPL NM_005373.3(MPL):c.1489_1490del (p.Ala497fs) DEL Pathogenic
1455997 GRCh37: 1:43814953-43814954
GRCh38: 1:43349282-43349283
22 MPL NM_005373.3(MPL):c.1546C>T (p.Gln516Ter) SNV Pathogenic
1457364 GRCh37: 1:43815011-43815011
GRCh38: 1:43349340-43349340
23 MPL NM_005373.3(MPL):c.1225_1226insT (p.Glu409fs) INSERT Pathogenic
1378565 GRCh37: 1:43812522-43812523
GRCh38: 1:43346851-43346852
24 MPL NM_005373.3(MPL):c.1814_1817del (p.Ser605fs) MICROSAT Pathogenic
1360846 GRCh37: 1:43818345-43818348
GRCh38: 1:43352674-43352677
25 MPL NM_005373.3(MPL):c.311del (p.Phe104fs) DEL Pathogenic
1451857 GRCh37: 1:43804310-43804310
GRCh38: 1:43338639-43338639
26 MPL NM_005373.3(MPL):c.655dup (p.Gln219fs) DUP Pathogenic
1453136 GRCh37: 1:43805204-43805205
GRCh38: 1:43339533-43339534
27 MPL NM_005373.3(MPL):c.1248G>A (p.Trp416Ter) SNV Pathogenic
1436487 GRCh37: 1:43812545-43812545
GRCh38: 1:43346874-43346874
28 MPL NM_005373.3(MPL):c.190C>T (p.Gln64Ter) SNV Pathogenic
1448576 GRCh37: 1:43803880-43803880
GRCh38: 1:43338209-43338209
29 MPL NM_005373.3(MPL):c.1042C>T (p.Gln348Ter) SNV Pathogenic
1072100 GRCh37: 1:43812177-43812177
GRCh38: 1:43346506-43346506
30 MPL NM_005373.3(MPL):c.1263_1264del (p.Cys422fs) DEL Pathogenic
1073154 GRCh37: 1:43812560-43812561
GRCh38: 1:43346889-43346890
31 MPL NM_005373.3(MPL):c.252del (p.Met84fs) DEL Pathogenic
1073761 GRCh37: 1:43804252-43804252
GRCh38: 1:43338581-43338581
32 MPL NM_005373.3(MPL):c.1025del (p.Pro342fs) DEL Pathogenic
1074655 GRCh37: 1:43812159-43812159
GRCh38: 1:43346488-43346488
33 MPL NM_005373.3(MPL):c.308del (p.Leu103fs) DEL Pathogenic
1075094 GRCh37: 1:43804308-43804308
GRCh38: 1:43338637-43338637
34 MPL NM_005373.3(MPL):c.304C>T (p.Arg102Cys) SNV Pathogenic
644406 rs763568293 GRCh37: 1:43804304-43804304
GRCh38: 1:43338633-43338633
35 MPL NM_005373.3(MPL):c.1462G>T (p.Glu488Ter) SNV Pathogenic
656664 rs1302209849 GRCh37: 1:43814667-43814667
GRCh38: 1:43348996-43348996
36 MPL NM_005373.3(MPL):c.1194G>A (p.Trp398Ter) SNV Pathogenic
660831 rs1570470199 GRCh37: 1:43812491-43812491
GRCh38: 1:43346820-43346820
37 MPL NC_000001.11:g.(?_43349253)_(43349369_?)del DEL Pathogenic
665044 GRCh37: 1:43814924-43815040
GRCh38: 1:43349253-43349369
38 MPL NM_005373.3(MPL):c.793del (p.Leu265fs) DEL Pathogenic
839594 rs1647020172 GRCh37: 1:43805735-43805735
GRCh38: 1:43340064-43340064
39 MPL NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) SNV Pathogenic
947960 rs1647073222 GRCh37: 1:43814553-43814553
GRCh38: 1:43348882-43348882
40 MPL NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) SNV Pathogenic
948825 rs1647060064 GRCh37: 1:43812567-43812567
GRCh38: 1:43346896-43346896
41 MPL NM_005373.3(MPL):c.378del (p.Phe126fs) DEL Pathogenic
265249 rs587778515 GRCh37: 1:43804376-43804376
GRCh38: 1:43338705-43338705
42 MPL NM_005373.3(MPL):c.455del (p.Ile152fs) DEL Pathogenic
943961 rs1647014461 GRCh37: 1:43805005-43805005
GRCh38: 1:43339334-43339334
43 MPL NM_005373.3(MPL):c.127C>T (p.Arg43Ter) SNV Pathogenic
371574 rs148434485 GRCh37: 1:43803817-43803817
GRCh38: 1:43338146-43338146
44 MPL NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) SNV Pathogenic
14157 rs121913612 GRCh37: 1:43818439-43818439
GRCh38: 1:43352768-43352768
45 MPL NM_005373.3(MPL):c.1573del (p.Arg525fs) DEL Pathogenic
1068255 GRCh37: 1:43817894-43817894
GRCh38: 1:43352223-43352223
46 MPL NM_005373.3(MPL):c.1276C>T (p.Arg426Ter) SNV Pathogenic
1068628 GRCh37: 1:43812573-43812573
GRCh38: 1:43346902-43346902
47 MPL NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) SNV Pathogenic
1069689 GRCh37: 1:43804273-43804273
GRCh38: 1:43338602-43338602
48 MPL NM_005373.3(MPL):c.230del (p.Cys77fs) DEL Pathogenic
1069872 GRCh37: 1:43804230-43804230
GRCh38: 1:43338559-43338559
49 MPL NM_005373.3(MPL):c.603_606del (p.His201fs) MICROSAT Pathogenic
1071039 GRCh37: 1:43805149-43805152
GRCh38: 1:43339478-43339481
50 MPL NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter) SNV Pathogenic
1072631 GRCh37: 1:43815028-43815028
GRCh38: 1:43349357-43349357

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 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 TP53 STAT5B STAT5A SH2B3 PPBP JAK2
2 13.69 VWF TP53 STAT5B STAT5A SH2B3 PPBP
3
Show member pathways
13.55 EPO IFNA1 IL3 JAK2 PF4 PPBP
4
Show member pathways
13.41 TP53 THPO STAT5B STAT5A PPBP MPL
5
Show member pathways
13.32 IL3 JAK2 PF4 PPBP STAT5A STAT5B
6
Show member pathways
13.26 IFNA1 IL3 JAK2 SH2B3 STAT5A STAT5B
7
Show member pathways
12.88 VWF TP53 JAK2 IL3 IFNA1 EPO
8
Show member pathways
12.79 THPO STAT5B STAT5A MPL JAK2
9
Show member pathways
12.77 TP53 STAT5B STAT5A JAK2 IFNA1
10
Show member pathways
12.77 STAT5B STAT5A PPBP PF4 JAK2 CALR
11
Show member pathways
12.51 TP53 STAT5B STAT5A JAK2
12
Show member pathways
12.46 VWF TP53 THPO THBD SH2B3 SELP
13 12.45 STAT5B STAT5A MPL JAK2 IL3 IFNA1
14
Show member pathways
12.42 VWF THBD PF4 CD177
15
Show member pathways
12.22 STAT5B STAT5A JAK2 IL3
16
Show member pathways
12.15 THBD SELP PF4 CD177
17
Show member pathways
12.11 TP53 THPO STAT5B STAT5A PPBP JAK2
18
Show member pathways
12.08 STAT5B STAT5A JAK2
19
Show member pathways
11.85 STAT5B STAT5A JAK2
20
Show member pathways
11.83 STAT5B STAT5A SH2B3 JAK2 EPO
21
Show member pathways
11.82 MPL THPO VWF
22
Show member pathways
11.82 STAT5B STAT5A SH2B3 JAK2
23
Show member pathways
11.79 STAT5B STAT5A JAK2
24 11.78 THPO STAT5B STAT5A MPL JAK2
25 11.78 THPO SH2B3 MPL IL3 EPO
26
Show member pathways
11.77 IL3 JAK2 STAT5A STAT5B
27 11.7 TP53 STAT5B STAT5A
28
Show member pathways
11.66 STAT5B STAT5A JAK2
29
Show member pathways
11.66 IL3 JAK2 STAT5A STAT5B
30
Show member pathways
11.63 STAT5B STAT5A SH2B3 JAK2 EPO
31 11.57 STAT5B STAT5A SELP JAK2
32
Show member pathways
11.53 STAT5B STAT5A JAK2
33 11.44 STAT5B STAT5A JAK2
34
Show member pathways
11.35 STAT5B STAT5A JAK2
35
Show member pathways
11.17 STAT5B STAT5A JAK2
36 11.11 STAT5B STAT5A JAK2
37 10.85 JAK2 SELP STAT5A STAT5B
38 10.4 STAT5B STAT5A

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 space GO:0005615 9.64 VWF THPO THBD SELP PPBP PF4

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.18 THPO STAT5B MPL JAK2 IL3 EPO
2 regulation of cell population proliferation GO:0042127 10.08 TP53 STAT5B STAT5A PF4
3 cellular response to lipopolysaccharide GO:0071222 10.02 JAK2 MIR223 PF4 PPBP THPO
4 erythrocyte differentiation GO:0030218 10 STAT5B JAK2 EPO
5 response to lipopolysaccharide GO:0032496 9.97 THPO THBD SELP JAK2 EPO
6 receptor signaling pathway via JAK-STAT GO:0007259 9.95 JAK2 STAT5A STAT5B
7 myeloid cell apoptotic process GO:0033028 9.81 STAT5B EPO
8 cellular response to interleukin-3 GO:0036016 9.8 SH2B3 JAK2
9 defense response GO:0006952 9.8 STAT5B STAT5A PPBP PF4 IFNA1
10 taurine metabolic process GO:0019530 9.76 STAT5B STAT5A
11 monocyte homeostasis GO:0035702 9.73 SH2B3 MPL
12 growth hormone receptor signaling pathway via JAK-STAT GO:0060397 9.63 JAK2 STAT5A STAT5B
13 thrombopoietin-mediated signaling pathway GO:0038163 9.43 THPO SH2B3 MPL
14 cytokine-mediated signaling pathway GO:0019221 9.4 STAT5B STAT5A PF4 MPL JAK2 IFNA1

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.32 THPO PPBP PF4 IL3 IFNA1 EPO

Sources for Essential Thrombocythemia

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