ET
MCID: ESS003
MIFTS: 70

Essential Thrombocythemia (ET) malady

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

Aliases & Classifications for Essential Thrombocythemia

Aliases & Descriptions for Essential Thrombocythemia:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:2224
ICD10 33 D47.3
ICD9CM 35 238.71
MeSH 42 D013920
NCIt 47 C3407
ICD10 via Orphanet 34 D47.3 D75.2
MESH via Orphanet 43 D013920
UMLS via Orphanet 70 C0040028
UMLS 69 C0040028

Summaries for Essential Thrombocythemia

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

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

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

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

Wikipedia : 71 Essential thrombocytosis (ET; also known as essential thrombocythemia, essential thrombocythaemia,... more...

Related Diseases for Essential Thrombocythemia

Diseases in the Essential Thrombocythemia family:

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

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

(show top 50) (show all 146)
id Related Disease Score Top Affiliating Genes
1 myeloproliferative neoplasm 32.4 JAK2 MPL PF4 SELP THPO VWF
2 budd-chiari syndrome 30.5 PF4 PPBP SELP THBD VWF
3 inherited predisposition to essential thrombocythemia 12.0
4 thpo-related essential thrombocythemia 12.0
5 calr-related essential thrombocythemia 12.0
6 thrombocythemia 1 11.8
7 acquired von willebrand syndrome 11.3
8 hereditary thrombocytosis with transverse limb defect 10.9
9 polycythemia 10.8
10 myelofibrosis 10.7
11 thrombosis 10.5
12 leukemia 10.4
13 localized anterior staphyloma 10.4 IFNA1 TP53
14 urogenital adysplasia 10.4 THBD VWF
15 mental depression 10.4 MPL SELP THPO
16 thrombocytopenia, congenital amegakaryocytic 10.4 IL3 MPL THPO
17 ocular hypertension 10.4 PF4 PPBP THBD
18 circumscribed cutaneous aplasia of the vertex 10.4 CALR IFNA1 IFNA2
19 gluten allergy 10.4 MPL THPO VWF
20 severe nonproliferative diabetic retinopathy 10.4 MPL SELP THPO VWF
21 poems syndrome 10.4 EPO TET2 THPO
22 clear cell adenofibroma 10.4 IFNA2 TP53
23 ectodermal dysplasia, ectrodactyly, and macular dystrophy 10.4 MPL THPO
24 congenital disorder of glycosylation, type iq 10.4 IFNA1 IFNA2 TET2
25 immunodeficiency 20 10.3 IFNA2 MPL SELP THPO
26 microvascular complications of diabetes 3 10.3 JAK2 STAT5A STAT5B
27 septic myocarditis 10.3 SELP THBD VWF
28 pyloric stenosis, infantile hypertrophic, 4 10.3 EPO IL3 JAK2
29 haemonchiasis 10.3 MPL THBD THPO VWF
30 temporomandibular ankylosis 10.3 IFNA2 JAK2 TET2
31 thyroid cancer, anaplastic 10.3 PPBP SELP THBD VWF
32 spondylocostal dysostosis 2 10.3 EPO IFNA2 JAK2 MPL
33 pregnancy loss, recurrent 1 10.3 PF4 THBD VWF
34 bone development disease 10.3 JAK2 SELP THBD VWF
35 queensland tick typhus 10.3 EPO IL3 JAK2
36 adiponectin deficiency 10.3 CALR SH2B3 THPO
37 fiedler's myocarditis 10.3 JAK2 THPO VWF
38 blood coagulation disease 10.3 EPO MPL THPO
39 anterior foramen magnum meningioma 10.3 EPO IFNA1 IFNA2 TP53
40 membranoproliferative glomerulonephritis 10.3 EPO JAK2 PF4 THPO VWF
41 malignant glioma 10.3 IFNA1 IFNA2
42 thrombocytosis 10.3
43 tracheal disease 10.3 IL3 MPL PF4 THPO VWF
44 osteoarthritis 10.3 CD177 IFNA1 IFNA2 IL3 THPO
45 von hippel anomaly 10.3 EPO IL3 JAK2 MPL TET2
46 hemophagocytic lymphohistiocytosis 10.3 IL3 JAK2 MPL STAT5B THPO
47 congenital chloride diarrhea 10.3 SELP THBD VWF
48 dic in newborn 10.3 EPO IL3 STAT5A STAT5B
49 goodpasture syndrome 10.3 IFNA1 IFNA2 JAK2 THBD
50 ceruminoma 10.3 IFNA1 IFNA2

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



Diseases related to Essential Thrombocythemia

Symptoms & Phenotypes for Essential Thrombocythemia

Human phenotypes related to Essential Thrombocythemia:

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

MGI Mouse Phenotypes related to Essential Thrombocythemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.2 PF4 SELP SH2B3 STAT5A STAT5B TET2
2 cellular MP:0005384 10.18 SELP SH2B3 STAT5A STAT5B TET2 THBD
3 homeostasis/metabolism MP:0005376 10.07 SELP STAT5A STAT5B THBD THPO TP53
4 immune system MP:0005387 10 BCL2L1 CD177 EPO JAK2 MPL SELP
5 integument MP:0010771 9.56 JAK2 SELP STAT5A STAT5B THBD TP53
6 liver/biliary system MP:0005370 9.23 EPO JAK2 SELP STAT5A STAT5B TET2

Drugs & Therapeutics for Essential Thrombocythemia

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

(show top 50) (show all 256)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anagrelide Approved Phase 4,Phase 3,Phase 2 68475-42-3 2182
2
Hydroxyurea Approved Phase 4,Phase 3,Phase 2 127-07-1 3657
3 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4 Fibrinolytic Agents Phase 4,Phase 3,Phase 2
5 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2
6
Lactitol Phase 4,Phase 2,Phase 3 585-86-4 3871
7
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
8
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
9
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
10
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1 50-18-0, 6055-19-2 2907
11
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
12
Benzocaine Approved Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
13
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
14
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
15
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
16
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
17
Ondansetron Approved Phase 3,Phase 1,Phase 2 99614-02-5 4595
18
Dalteparin Approved Phase 3 9041-08-1
19
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
20
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
21
Guaifenesin Approved, Vet_approved Phase 3 93-14-1 3516
22
Morphine Approved, Investigational Phase 3 57-27-2 5288826
23
Aspirin Approved, Vet_approved Phase 3,Phase 2 50-78-2 2244
24
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2,Phase 1 198153-51-4 5360545
25 Pomalidomide Approved Phase 3,Phase 1,Phase 2 19171-19-8
26
Etoposide Approved Phase 2, Phase 3,Phase 1 33419-42-0 36462
27
Melphalan Approved Phase 2, Phase 3, Phase 1 148-82-3 4053 460612
28
Thiotepa Approved Phase 2, Phase 3,Phase 1 52-24-4 5453
29
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1 147-94-4 6253
30
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
31
Danazol Approved Phase 3,Phase 2 17230-88-5 28417
32 tannic acid Approved, Nutraceutical Phase 3,Phase 1,Phase 2
33
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
34 Analgesics Phase 3,Phase 2,Phase 1
35 Anesthetics Phase 3
36 Anesthetics, Dissociative Phase 3
37 Anesthetics, General Phase 3
38 Anesthetics, Intravenous Phase 3
39 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
40 Excitatory Amino Acid Antagonists Phase 3
41 Excitatory Amino Acids Phase 3
42 Neurotransmitter Agents Phase 3,Phase 2
43 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
44 Anti-Bacterial Agents Phase 3,Phase 1,Phase 2
45 Dermatologic Agents Phase 3,Phase 2,Phase 1
46 Antirheumatic Agents Phase 3,Phase 2,Phase 1
47 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
48 Alkylating Agents Phase 2, Phase 3,Phase 1
49 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
50 Antimetabolites Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 231)
id Name Status NCT ID Phase
1 Exploratory Phase II Study of INC424 Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) Completed NCT01558739 Phase 4
2 A Study of Anagrelide and Hydroxyurea in High-Risk Essential Thrombocythemia Patients Completed NCT00202644 Phase 4
3 CINC424A2X01B Rollover Protocol Recruiting NCT02386800 Phase 4
4 INC424 for Patients With Myelofibrosis, Post Polycythemia Myelofibrosis or Post-essential Thrombocythemia Myelofibrosis No longer available NCT01493414 Phase 4
5 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3
6 Anagrelide Retard in Essential Thrombocythemia Completed NCT02076815 Phase 3
7 Anagrelide Retard vs. Placebo: Efficacy and Safety in "At-risk" Patients With Essential Thrombocythaemia Completed NCT01230775 Phase 3
8 Anagrelide vs. Hydroxyurea - Efficacy and Tolerability Study in Patients With Essential Thrombocythaemia Completed NCT01065038 Phase 3
9 Long-term Safety of SPD422 in Japanese Adults With Essential Thrombocythaemia Completed NCT01467661 Phase 3
10 A Clinical Study of Ruxolitinib in Patients With Primary Myelofibrosis (PM), Post-polycythemia Vera (PV) Myelofibrosis, or Post-essential Thrombocythemia (ET) Myelofibrosis Completed NCT02087059 Phase 3
11 Effect of SPD422 on Platelet Lowering and Safety in Japanese Adults With At Risk Essential Thrombocythaemia Completed NCT01214915 Phase 3
12 COntrolled MyeloFibrosis Study With ORal JAK Inhibitor Treatment: The COMFORT-I Trial Completed NCT00952289 Phase 3
13 Controlled Myelofibrosis Study With Oral Janus-associated Kinase (JAK) Inhibitor Treatment-II: The COMFORT-II Trial Completed NCT00934544 Phase 3
14 Phase III Study of SAR302503 in Intermediate-2 and High Risk Patients With Myelofibrosis Completed NCT01437787 Phase 3
15 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
16 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3
17 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
18 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
19 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3
20 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3
21 Dalteparin to Prevent Complications in Cancer Patients Receiving Chemotherapy Through a Catheter Completed NCT00006083 Phase 3
22 St. John's Wort in Relieving Fatigue in Patients Undergoing Chemotherapy or Hormone Therapy for Cancer Completed NCT00005805 Phase 3
23 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3
24 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3
25 The Ruxo-BEAT Trial in Patients With High-risk Polycythemia Vera or High-risk Essential Thrombocythemia Recruiting NCT02577926 Phase 3
26 The Ruxolitinib Versus Best Available Therapy Trial in Patients With High Risk ET in Second Line Recruiting NCT02962388 Phase 2, Phase 3
27 Randomized Trial of Pegylated Interferon Alfa-2a Versus Hydroxyurea in Polycythemia Vera (PV) and Essential Thrombocythemia (ET) Active, not recruiting NCT01259856 Phase 3
28 Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis (MF), Post-polycythemia Vera MF, or Post-essential Thrombocythemia MF Active, not recruiting NCT02101268 Phase 3
29 Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis Active, not recruiting NCT01969838 Phase 3
30 A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms Active, not recruiting NCT01387763 Phase 3
31 Phase-3 Double-Blind, Placebo-Controlled Study of Pomalidomide in Persons With Myeloproliferative-Neoplasm-Associated Myelofibrosis and RBC-Transfusion-Dependence Myelofibrosis and RBC-Transfusion-Dependence Active, not recruiting NCT01178281 Phase 3
32 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3
33 Hydroxyurea Versus Aspirin and Hydroxyurea in Essential Thrombocythemia Not yet recruiting NCT02611973 Phase 3
34 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis With Thrombocytopenia Terminated NCT02055781 Phase 3
35 Oral Pacritinib Versus Best Available Therapy to Treat Myelofibrosis Terminated NCT01773187 Phase 3
36 A Study of the Efficacy of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia Unknown status NCT00866762 Phase 2
37 LBH589 (Panobinostat) for the Treatment of Myelofibrosis Unknown status NCT01298934 Phase 1, Phase 2
38 CEP-701 (Lestaurtinib) in Myelofibrosis Unknown status NCT00668421 Phase 1, Phase 2
39 Pegylated Interferon Alfa-2a Salvage Therapy in High Risk Polycythemia Vera (PV) or Essential Thrombocythemia (ET) Completed NCT01259817 Phase 2
40 The Pharmacokinetics of Anagrelide in Elderly and Young Patients With Essential Thrombocythaemia (ET) Completed NCT00413634 Phase 2
41 Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera Completed NCT01243073 Phase 2
42 Safety Study Evaluating Twice-Daily Administration of Momelotinib in Primary Myelofibrosis or Post-Polycythemia Vera or Post-Essential Thrombocythemia Myelofibrosis Completed NCT01423058 Phase 1, Phase 2
43 Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT00935987 Phase 1, Phase 2
44 Extension Study Evaluating the Long Term Safety and Efficacy Study of CYT387 in Primary Myelofibrosis (PMF) or Post-polycythemia Vera (PV) or Post-essential Thrombocythemia (ET) Completed NCT01236638 Phase 2
45 Open Label Ruxolitinib (INCB018424) in Patients With Myelofibrosis and Post Polycythemia Vera/Essential Thrombocythemia Myelofibrosis Completed NCT00509899 Phase 1, Phase 2
46 Efficacy and Safety of Simtuzumab in Adults With Primary, Post Polycythemia Vera or Post Essential Thrombocythemia Myelofibrosis Completed NCT01369498 Phase 2
47 Study With SAR302503 in Patients With Polycythemia Vera or Essential Thrombocythemia Completed NCT01420783 Phase 2
48 Open-Label Study of Oral CEP-701 (Lestaurtinib) in Patients With Polycythemia Vera or Essential Thrombocytosis Completed NCT00586651 Phase 2
49 Alternative Dosing Strategy of Ruxolitinib in Patients With Myelofibrosis Completed NCT01445769 Phase 2
50 Phase 2 Study 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

Search NIH Clinical Center for Essential Thrombocythemia

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


Cochrane evidence based reviews: thrombocythemia, essential

Genetic Tests for Essential Thrombocythemia

Genetic tests related to Essential Thrombocythemia:

id Genetic test Affiliating Genes
1 Essential Thrombocythemia 29

Anatomical Context for Essential Thrombocythemia

MalaCards organs/tissues related to Essential Thrombocythemia:

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

Publications for Essential Thrombocythemia

Articles related to Essential Thrombocythemia:

(show top 50) (show all 771)
id Title Authors Year
1
A novel germ-line mutation of c-mpl gene in a sporadic case of essential thrombocythemia. ( 28391042 )
2017
2
A Case of Anagrelide-Induced Nonischemic Cardiomyopathy in a Patient With Essential Thrombocythemia. ( 28343445 )
2017
3
Erythromelalgia in patients with essential thrombocythemia and polycythemia vera. ( 27684959 )
2017
4
Essential thrombocythemia: a review of the clinical features, diagnostic challenges, and treatment modalities in the era of molecular discovery. ( 28503969 )
2017
5
Bone marrow histology for the diagnosis of essential thrombocythemia in children: a multi-center Italian study. ( 28408463 )
2017
6
Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia. ( 28450924 )
2017
7
Differences in Hematological and Clinical Features Between Essential Thrombocythemia Cases With JAK2- or CALR-Mutations. ( 28029004 )
2017
8
Essential thrombocythemia presenting as acute coronary syndrome: case reports and literature review. ( 28285408 )
2017
9
Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia. ( 27855276 )
2017
10
Medical Management of Extensive Arterial Thromboembolism in a Patient with Essential Thrombocythemia and Warfarin Failure. ( 28259826 )
2017
11
Efficacy of interferon-alpha in essential thrombocythemia during pregnancy. ( 28194492 )
2017
12
Generation of human iPSCs from an essential thrombocythemia patient carrying a V501L mutation in the MPL gene. ( 28395806 )
2017
13
The prognostic relevance of serum lactate dehydrogenase and mild bone marrow reticulin fibrosis in essential thrombocythemia. ( 28211153 )
2017
14
Observational retrospective study of vascular modulator changes during treatment in essential thrombocythemia. ( 28259616 )
2017
15
Increased B cell activation is present in JAK2V617F-mutated, CALR-mutated and triple-negative essential thrombocythemia. ( 28415571 )
2017
16
Drug-induced interstitial pneumonitis in essential thrombocythemia treated with anagrelide. ( 28321088 )
2017
17
Driver mutations (JAK2V617F, MPLW515L/K or CALR), pentraxin-3 and C-reactive protein in essential thrombocythemia and polycythemia vera. ( 28228104 )
2017
18
Risk of venous thromboembolism in pregnant women with essential thrombocythemia: a systematic review and meta-analysis. ( 28049641 )
2017
19
A Novel Approach to Essential Thrombocythemia and Cardiac Surgery. ( 28219560 )
2017
20
Clinical impact of bone marrow morphology for the diagnosis of essential thrombocythemia: comparison between the BCSH and the WHO criteria. ( 28248312 )
2017
21
Assessing the thrombotic risk of patients with essential thrombocythemia in the genomic Era. ( 28529308 )
2017
22
Hemorrhage and Infarction of the Conjunctiva and Orbit in Essential Thrombocythemia. ( 28328595 )
2017
23
Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management. ( 27991718 )
2017
24
Peripheral circulatory disorders in essential thrombocythemia. ( 28495449 )
2017
25
Impact of JAK2V617F Mutational Status on Phenotypic Features in Essential Thrombocythemia and Primary Myelofibrosis. ( 25913509 )
2016
26
Fatal ischemic stroke following Tityus serrulatus scorpion sting in a patient with essential thrombocythemia. ( 27386925 )
2016
27
The Use of Anagrelide in Myeloproliferative Neoplasms, with Focus on Essential Thrombocythemia. ( 27497846 )
2016
28
Concomitant essential thrombocythemia with JAK2 V617F mutation in a patient with chronic myeloid leukemia with major molecular response with imatinib and long-term follow-up. ( 27347169 )
2016
29
Transplacental transfer of essential thrombocythemia in monozygotic twins. ( 27512155 )
2016
30
Bone mineral density and microarchitecture in patients with essential thrombocythemia and polycythemia vera. ( 27734102 )
2016
31
Aspirin, but not clopidogrel, ameliorates vasomotor symptoms due to essential thrombocythemia: A case report. ( 27206879 )
2016
32
Retinal Vessel Caliber, Choroidal Thickness and Ocular Pulse Amplitude Measurements in Essential Thrombocythemia. ( 26957845 )
2016
33
How to Treat Essential Thrombocythemia and Polycythemia Vera. ( 27521307 )
2016
34
Splenomegaly and thrombosis risk in essential thrombocythemia: the mayo clinic experience. ( 26875150 )
2016
35
Diversities of Calreticulin Gene Mutations in Macedonian Patients With Essential Thrombocythemia. ( 27521277 )
2016
36
Clinical and histological characteristics of livedo racemosa in essential thrombocythemia: A report of two cases and review of the published works. ( 27570091 )
2016
37
Antiplatelet therapy versus observation in low-risk essential thrombocythemia with CALR mutation. ( 27175028 )
2016
38
Extrinsic blood coagulation pathway and risk factors for thrombotic events in patients with essential thrombocythemia. ( 27243342 )
2016
39
Calreticulin variant stratified driver mutational status and prognosis in essential thrombocythemia. ( 26890983 )
2016
40
Calreticulin mutation does not contribute to disease progression in essential thrombocythemia by inhibiting phagocytosis. ( 27185380 )
2016
41
Immunohistochemical staining of transcription factor NFE2 for the discrimination of primary myelofibrosis from essential thrombocythemia. ( 27038682 )
2016
42
Clinical Manifestation of Calreticulin Gene Mutations in Essential Thrombocythemia without Janus Kinase 2 and MPL Mutations: A Chinese Cohort Clinical Study. ( 27453224 )
2016
43
Activation of the tissue factor-dependent extrinsic pathway and its relation to JAK2 V617F mutation status in patients with essential thrombocythemia. ( 26945263 )
2016
44
Frequency of Calreticulin (CALR) Mutation and Its Clinical Prognostic Significance in Essential Thrombocythemia and Primary Myelofibrosis: A Meta-analysis. ( 27477402 )
2016
45
miR-203 and miR-221 regulate SOCS1 and SOCS3 in essential thrombocythemia. ( 26990535 )
2016
46
Calreticulin mutant mice develop essential thrombocythemia that is ameliorated by the JAK inhibitor ruxolitinib. ( 27807369 )
2016
47
Impact of JAK2V617F Mutation Burden on Disease Phenotype in Chinese Patients with JAK2V617F-positive Polycythemia Vera (PV) and Essential thrombocythemia (ET). ( 26917989 )
2016
48
A phase II study of panobinostat in patients with primary myelofibrosis (PMF) and post-polycythemia vera/essential thrombocythemia myelofibrosis (post-PV/ET MF). ( 27930945 )
2016
49
Clinical features of Japanese polycythemia vera and essential thrombocythemia patients harboring CALR, JAK2V617F, JAK2Ex12del, and MPLW515L/K mutations. ( 26614694 )
2016
50
Clinical features of JAK2V617F- or CALR-mutated essential thrombocythemia and primary myelofibrosis. ( 26994960 )
2016

Variations for Essential Thrombocythemia

ClinVar genetic disease variations for Essential Thrombocythemia:

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

Expression for Essential Thrombocythemia

Search GEO for disease gene expression data for Essential Thrombocythemia.

Pathways for Essential Thrombocythemia

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

(show all 48)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.05 BCL2L1 CALR CD177 IFNA1 IFNA2 IL3
2
Show member pathways
13.61 BCL2L1 EPO IFNA1 IFNA2 IL3 JAK2
3
Show member pathways
13.49 EPO IFNA1 IFNA2 IL3 JAK2 MPL
4
Show member pathways
13.42 IL3 JAK2 PF4 PPBP STAT5A STAT5B
5
Show member pathways
13.32 BCL2L1 IFNA1 IFNA2 IL3 JAK2 STAT5A
6
Show member pathways
12.9 CALR IFNA1 IFNA2 STAT5A STAT5B TP53
7
Show member pathways
12.88 CD177 IFNA1 IFNA2 IL3 JAK2 MPL
8
Show member pathways
12.86 CALR JAK2 PF4 PPBP STAT5A STAT5B
9
Show member pathways
12.78 JAK2 MPL STAT5A STAT5B THPO
10
Show member pathways
12.78 IFNA1 IFNA2 JAK2 STAT5A STAT5B TP53
11
Show member pathways
12.59 BCL2L1 JAK2 STAT5A STAT5B TP53
12 12.5 IFNA1 IL3 JAK2 MPL STAT5A STAT5B
13 12.5 BCL2L1 EPO IFNA1 IFNA2 IL3 JAK2
14 12.41 BCL2L1 CALR STAT5A STAT5B TP53
15
Show member pathways
12.38 BCL2L1 JAK2 STAT5A STAT5B TP53
16
Show member pathways
12.32 BCL2L1 IL3 JAK2 STAT5A STAT5B
17
Show member pathways
12.29 IFNA1 IFNA2 JAK2 STAT5A STAT5B
18
Show member pathways
12.23 CD177 PF4 SELP THBD
19
Show member pathways
12.17 CD177 PF4 THBD VWF
20 12.13 IFNA1 IFNA2 JAK2 SH2B3 TP53
21
Show member pathways
12.08 BCL2L1 STAT5A STAT5B TP53
22
Show member pathways
12.01 BCL2L1 EPO IL3 JAK2 SH2B3 STAT5A
23 11.95 EPO IFNA2 IL3 MPL SH2B3 THPO
24 11.89 JAK2 STAT5A STAT5B THBD
25
Show member pathways
11.87 MPL THPO VWF
26 11.86 EPO IL3 THPO
27 11.82 JAK2 STAT5A STAT5B
28
Show member pathways
11.82 IL3 JAK2 STAT5A STAT5B
29
Show member pathways
11.79 BCL2L1 EPO JAK2 SH2B3 STAT5A STAT5B
30 11.78 STAT5A STAT5B TP53
31 11.74 JAK2 STAT5A STAT5B
32
Show member pathways
11.68 BCL2L1 STAT5A STAT5B
33 11.67 JAK2 STAT5A STAT5B
34 11.65 JAK2 SELP STAT5A STAT5B
35
Show member pathways
11.56 BCL2L1 EPO IFNA1 IFNA2 IL3 JAK2
36 11.54 JAK2 STAT5A STAT5B
37 11.53 EPO IFNA1 IFNA2 IL3 JAK2 STAT5A
38 11.52 EPO IL3 STAT5A
39
Show member pathways
11.47 BCL2L1 STAT5A STAT5B
40
Show member pathways
11.43 JAK2 STAT5A STAT5B
41 11.43 JAK2 STAT5A STAT5B
42
Show member pathways
11.39 JAK2 STAT5A STAT5B
43 11.36 BCL2L1 EPO TP53
44 11.29 BCL2L1 JAK2 TP53
45 11.27 BCL2L1 JAK2 MPL STAT5A STAT5B THPO
46
Show member pathways
11.24 JAK2 SELP STAT5A STAT5B
47 11.02 JAK2 STAT5A STAT5B
48 10.77 BCL2L1 TP53

GO Terms for Essential Thrombocythemia

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

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

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

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.99 BCL2L1 EPO MPL THPO TP53
2 regulation of apoptotic process GO:0042981 9.92 BCL2L1 CALR JAK2 TP53
3 positive regulation of cell proliferation GO:0008284 9.91 BCL2L1 CALR EPO IL3 JAK2 STAT5B
4 peptidyl-tyrosine phosphorylation GO:0018108 9.88 IL3 JAK2 STAT5A STAT5B
5 defense response GO:0006952 9.86 IFNA1 IFNA2 PF4 PPBP
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.81 IL3 JAK2 TP53
7 platelet degranulation GO:0002576 9.81 PF4 PPBP SELP VWF
8 positive regulation of DNA replication GO:0045740 9.72 CALR EPO IL3
9 embryonic hemopoiesis GO:0035162 9.64 IL3 SH2B3
10 oxaloacetate metabolic process GO:0006107 9.63 STAT5A STAT5B
11 response to lipopolysaccharide GO:0032496 9.63 EPO JAK2 PF4 PPBP SELP THBD
12 regulation of mitochondrial membrane permeability GO:0046902 9.62 BCL2L1 TP53
13 creatine metabolic process GO:0006600 9.61 STAT5A STAT5B
14 succinate metabolic process GO:0006105 9.61 STAT5A STAT5B
15 citrate metabolic process GO:0006101 9.6 STAT5A STAT5B
16 valine metabolic process GO:0006573 9.58 STAT5A STAT5B
17 JAK-STAT cascade GO:0007259 9.58 JAK2 STAT5A STAT5B
18 taurine metabolic process GO:0019530 9.57 STAT5A STAT5B
19 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.56 EPO IFNA2 IL3 JAK2
20 creatinine metabolic process GO:0046449 9.54 STAT5A STAT5B
21 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.54 EPO IL3 JAK2
22 isoleucine metabolic process GO:0006549 9.52 STAT5A STAT5B
23 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.5 JAK2 STAT5A STAT5B
24 blood coagulation GO:0007596 9.5 CD177 IFNA1 IFNA2 JAK2 SH2B3 THBD
25 thrombopoietin-mediated signaling pathway GO:0038163 9.49 MPL THPO
26 allantoin metabolic process GO:0000255 9.48 STAT5A STAT5B
27 prolactin signaling pathway GO:0038161 9.46 STAT5A STAT5B
28 cytokine-mediated signaling pathway GO:0019221 9.17 IFNA1 IFNA2 IL3 JAK2 MPL PF4

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

id Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.43 CALR TP53 VWF
2 glycoprotein binding GO:0001948 9.33 CALR SELP VWF
3 protein tyrosine kinase activity GO:0004713 9.26 IL3 JAK2 STAT5A STAT5B
4 cytokine activity GO:0005125 9.1 IFNA1 IFNA2 IL3 PF4 PPBP THPO

Sources for Essential Thrombocythemia

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