MCID: ESS003
MIFTS: 60

Essential Thrombocythemia malady

Blood category

Summaries for Essential Thrombocythemia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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: 6/30/2011

MalaCards: Essential Thrombocythemia, also known as essential thrombocytosis, is related to polycythemia vera and primary polycythemia. An important gene associated with Essential Thrombocythemia is THPO (thrombopoietin), and among its related pathways are Interferon Pathway and Prolactin receptor signaling. The drugs hydroxyurea and interferon alfa-2a and the compounds anagrelide and indomethacin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and spleen, and related mouse phenotypes are homeostasis/metabolism and immune system.

Genetics Home Reference:21 Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are the blood cells involved in blood clotting.

Wikipedia:64 Essential thrombocytosis (ET, also known as Essential thrombocythemia) or Primary thrombocytosis (PT) is... more...

Aliases & Classifications for Essential Thrombocythemia

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 22GTR, 45Novoseek, 61UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Aliases & Descriptions:

essential thrombocythemia 43 22 21
essential thrombocytosis 43 21
primary thrombocythemia 43 21
hemorrhagic thrombocythemia 43
idiopathic thrombocythemia 43
thrombocythemia, essential 61
thrombocythemia essential 45
primary thrombocytosis 21


Related Diseases for Essential Thrombocythemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the thrombocythemia 1 family:

essential thrombocythemia thrombocythemia 2
thrombocythemia 3

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

(show top 50)    (show all 174)
idRelated DiseaseScoreTop Affiliating Genes
1polycythemia vera31.8IFNA2, IFNA1, JAK2, STAT5A, MPL, CD177
2primary polycythemia31.0JAK2, STAT5A
3thrombocytosis31.0IFNA2, IFNA1, PPBP, JAK2, MPL, CD177
4acute leukemia30.9JAK2, GATA1, STAT5A, MPL, THPO
5acute myocardial infarction30.8SULT1A3, THBD, PF4, PPBP
6venous thrombosis30.6JAK2, PF4, THBD, SULT1A3
7erythromelalgia30.6PPBP, PF4, THBD
8chronic myeloid leukemia30.6IFNA2, IFNA1, SOCS2, PPBP, JAK2, GATA1
9thromboembolism30.5PF4, THBD, SULT1A3
10refractory anemia30.5JAK2, MPL, THPO
11myeloproliferative disorder30.5ALOX12, THPO, THBD, IFNA2, IFNA1, PPBP
12portal vein thrombosis30.3THPO
13thrombophilia30.3THBD, PF4, PPBP
14thrombocytopenia30.3IFNA2, IFNA1, PPBP, GATA1, MPL, PF4
15antiphospholipid syndrome30.3SULT1A3, THBD, PF4
16mastocytosis30.1IFNA2
17arthritis30.1ALOX12, SULT1A3, IL23A
18erythrocytosis30.1JAK2, MPL, CD177
19splenomegaly30.1IFNA2, IFNA1, JAK2, MPL, THPO
20megakaryocytic leukemia30.1GATA1, PF4, THPO
21systemic mastocytosis30.1STAT5A, JAK2, IFNA2
22stroke, ischemic30.1PPBP, PF4, THBD, SULT1A3
23chronic myelomonocytic leukemia30.1JAK2, STAT5A, MPL
24aplastic anemia30.1GATA1, MPL, THPO
25hemorrhagic thrombocythemia30.1CD177
26atherosclerosis30.1KLF5, PPBP, PF4, THBD, SULT1A3, ALOX12
27protein c deficiency30.1THBD
28acute myeloid leukemia10.5
29t-cell leukemia10.5
30thrombocythemia 210.5
31thrombocythemia 110.5
32acute t cell leukemia10.3
33acute biphenotypic leukemia10.3
34venous thromboembolism10.3
35inherited predisposition to essential thrombocythemia10.3
36lymphoid leukemia10.2
37carotid artery dissection10.2
38coronary thrombosis10.2
39myeloid sarcoma10.2
40vein disease10.2
41leukemia, t-cell, chronic10.2
42heparin-induced thrombocytopenia10.2
43thpo-related essential thrombocythemia10.2
44angina pectoris10.1
45central retinal artery occlusion10.1
46cardiac tamponade10.1
47hemoglobin d disease10.1
48hemoglobin e disease10.1
49focal segmental glomerulosclerosis10.1
50erythropoietin polycythemia10.1

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



Diseases related to essential thrombocythemia

Clinical Features for Essential Thrombocythemia

Drugs & Therapeutics for Essential Thrombocythemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Essential Thrombocythemia

Drug clinical trials:

Search ClinicalTrials for Essential Thrombocythemia

Search NIH Clinical Center for Essential Thrombocythemia

Search CenterWatch for Essential Thrombocythemia

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Essential Thrombocythemia

Sources:
22GTR
See all sources

Genetic tests related to Essential Thrombocythemia:

id Genetic test Affiliating Genes
1 Essential Thrombocythemia22

Anatomical Context for Essential Thrombocythemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Essential Thrombocythemia:

33
Bone marrow, Whole blood, Spleen, Spinal cord, Liver, Lung, Skin, Myeloid, Monocytes, T cells, B cells, Endothelial, Fetal liver, Fetal lung

Animal Models for Essential Thrombocythemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Essential Thrombocythemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.2STAT5A, GATA1, JAK2, SOCS2, MPL, PF4
2MP:000538710.2TPO, KLF5, SOCS2, JAK2, GATA1, STAT5A
3MP:000539710.0MPL, STAT5A, GATA1, JAK2, PF4, IL23A

Publications for Essential Thrombocythemia

Sources:
51PubMed
See all sources

Articles related to Essential Thrombocythemia:

(show top 50)    (show all 605)
idTitleAuthorsYear
1
Essential thrombocythemia as a risk factor for stillbirth. (24268792)
2014
2
Long term molecular responses in a cohort of Danish patients with essential thrombocythemia, polycythemia vera and myelofibrosis treated with recombinant interferon alpha. (23827351)
2013
3
Multiple myeloma following essential thrombocythemia. (23906574)
2013
4
Successful management of acute bleeding in essential thrombocythemia using automated cell separator. (24325890)
2013
5
Pharmacological management of essential thrombocythemia. (23668666)
2013
6
Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon I+-2a. (23782935)
2013
7
Automated assessment of the neutrophil and platelet activation status in patients with essential thrombocythemia. (22059534)
2012
8
JAK2 V617F positive essential thrombocythemia developing in a patient with CD5a8> chronic lymphocytic leukemia. (22884083)
2012
9
Development and validation of an International Prognostic Score of thrombosis in World Health Organization-essential thrombocythemia (IPSET-thrombosis). (23033268)
2012
10
Resorptive hypercalcemia in post-essential thrombocythemia myelofibrosis: treatment with denosumab. (22730513)
2012
11
Acral ischemia as a presenting manifestation of essential thrombocythemia. (21858443)
2011
12
Spontaneous hemopericardium leading to cardiac tamponade in a patient with essential thrombocythemia. (21318136)
2011
13
Essential thrombocythemia and multiple myeloma: two rare diseases in one patient. (21859555)
2011
14
Inflammation and thrombosis in essential thrombocythemia and polycythemia vera: different role of C-reactive protein and pentraxin 3. (21173097)
2011
15
Neurological disorders in essential thrombocythemia. (21933860)
2011
16
Emerging treatments for essential thrombocythemia. (22287874)
2011
17
JAK2 mutation status, hemostatic risk factors and thrombophilic factors in essential thrombocythemia (ET) patients. (21744327)
2011
18
The contribution of cyclooxygenase-1 and -2 to persistent thromboxane biosynthesis in aspirin-treated essential thrombocythemia: implications for antiplatelet therapy. (19887674)
2010
19
Essential thrombocythemia with deleted 5q--a genetic and morphologic hybrid? (20633767)
2010
20
Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation. (19582452)
2010
21
The influence of low-dose aspirin and hydroxyurea on platelet-leukocyte interactions in patients with essential thrombocythemia. (19741509)
2009
22
JAK2 V617F-positive latent essential thrombocythemia and splanchnic vein thrombosis: the role of bone marrow biopsy for the diagnosis of myeloproliferative disease. (19478480)
2009
23
Anagrelide treatment in early pregnancy in a patient with JAK2V617F-positive essential thrombocythemia: case report and literature review. (19887779)
2009
24
Myeloid sarcoma in essential thrombocythemia that transformed into acute myeloid leukemia. (19172381)
2009
25
Platelet turnover, coagulation factors, and soluble markers of platelet and endothelial activation in essential thrombocythemia: relationship with thrombosis occurrence and JAK2 V617F allele burden. (19105233)
2009
26
Significant increase in the apparent incidence of essential thrombocythemia related to new WHO diagnostic criteria: a population-based study. (19377078)
2009
27
Emerging drugs for the therapy of primary and post essential thrombocythemia, post polycythemia vera myelofibrosis. (19552608)
2009
28
Proteomic study of the impact of the JAK2-V617F mutation on the phenotype of essential thrombocythemia. (18838204)
2008
29
Fibrosis identified in the bone marrow biopsies of patients with essential thrombocythemia: its incidence and significance for the differential diagnostic considerations. (18783136)
2008
30
Disappearance of JAK2 V617F mutation in a rapid leukemic transformed essential thrombocythemia patient. (18078991)
2008
31
Prevalence of polycythemia vera and essential thrombocythemia. (18181200)
2008
32
Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden. (18451307)
2008
33
The V617F JAK2 mutation and the increase in platelet CD36 in essential thrombocythemia are unrelated events. (17573918)
2007
34
Effect of anagrelide on platelet coagulant function in patients with essential thrombocythemia. (18057866)
2007
35
Expertise-based management in essential thrombocythemia and polycythemia vera. (18032974)
2007
36
Digital ischemia due to essential thrombocythemia: a case report. (17826562)
2007
37
Long-lasting partial remission by Interferon-alpha treatment in a child with essential thrombocythemia. (16421912)
2007
38
Essential thrombocythemia beyond the first decade: life expectancy, long-term complication rates, and prognostic factors. (16471068)
2006
39
Is bone marrow biopsy essential for the diagnosis of essential thrombocythemia? (17064976)
2006
40
The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. (16728702)
2006
41
The impact of clinicopathological studies on staging and survival in essential thrombocythemia, chronic idiopathic myelofibrosis, and polycythemia rubra vera. (16810612)
2006
42
Platelet-mediated erythromelalgic, cerebral, ocular and coronary microvascular ischemic and thrombotic manifestations in patients with essential thrombocythemia and polycythemia vera: a distinct aspirin-responsive and coumadin-resistant arterial thrombophilia. (17127481)
2006
43
Essential thrombocythemia or chronic idiopathic myelofibrosis? A single-center study based on hematopoietic bone marrow histology. (17064987)
2006
44
Molecular basis of the diagnosis and treatment of polycythemia vera and essential thrombocythemia. (16484586)
2006
45
An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation. (16885051)
2006
46
Long-term outcome of 231 patients with essential thrombocythemia: prognostic factors for thrombosis, bleeding, myelofibrosis, and leukemia. (16344424)
2005
47
Philadelphia chromosome positive essential thrombocythemia with dilated cardiomyopathy. (16121816)
2005
48
Bone marrow histopathology and biological markers as specific clues to the differential diagnosis of essential thrombocythemia, polycythemia vera and prefibrotic or fibrotic agnogenic myeloid metaplasia. (15048058)
2004
49
High levels of thrombopoietin in sera of patients with essential thrombocythemia: cause or consequence of abnormal platelet production? (9858146)
1998
50
Essential thrombocythemia: a rare case of central retinal artery occlusion. (1921721)
1991

Genetic Variations for Essential Thrombocythemia

Expression for genes affiliated with Essential Thrombocythemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Essential Thrombocythemia

Search GEO for disease gene expression data for Essential Thrombocythemia.

Pathways for genes affiliated with Essential Thrombocythemia

Sources:
52QIAGEN, 54Reactome, 53R&D Systems, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology
See all sources

Pathways related to Essential Thrombocythemia according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4JAK2, IFNA1, IFNA2
2
Hide members
10.4SOCS2, JAK2, STAT5A
3
Hide members
10.4PPBP, MPL, IL23A, THPO
4
Hide members
10.4JAK2, STAT5A, IL23A
510.4GATA1, JAK2, IFNA1, IFNA2
6
Hide members
10.4SOCS2, JAK2, STAT5A, MPL
710.4IL23A, JAK2, IFNA1, IFNA2
8
Hide members
10.4STAT5A, JAK2, IFNA1, IFNA2
910.4STAT5A, GATA1, JAK2, SOCS2
10
Development Thrombopoetin signaling via JAK-STAT pathway
Hide members
10.4SOCS2, JAK2, STAT5A, MPL, THPO
11
Hide members
10.4SOCS2, JAK2, STAT5A, MPL, THPO
12
Hide members
10.4PPBP, JAK2, STAT5A, PF4
13
Hide members
10.4PPBP, JAK2, PF4, IL23A, THPO
14
Hide members
10.4IFNA2, IFNA1, SOCS2, JAK2, STAT5A
15
Hide members
10.3PPBP, JAK2, STAT5A, PF4, IL23A, THPO
16
Hide members
10.3PPBP, JAK2, STAT5A, PF4, IL23A, THPO
17
Hide members
10.3IFNA2, IFNA1, PPBP, JAK2, GATA1, MPL
1810.3TPO, IFNA2, IFNA1, SOCS2, JAK2, STAT5A
19
Hide members
10.3IFNA1, SOCS2, PPBP, JAK2, STAT5A, MPL

Compounds for genes affiliated with Essential Thrombocythemia

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Essential Thrombocythemia according to GeneCards/GeneDecks:

(show top 50)    (show all 103)
idCompoundScoreTop Affiliating Genes
1anagrelide45 1111.8IFNA2, IFNA1, JAK2, MPL, PF4, THPO
2indomethacin45 60 29 1113.8ALOX12, PF4
3oxygen45 2411.8JAK2, STAT5A, PF4, TPO
4polyethylene glycol4510.8MPL, IFNA1, THPO, THBD, PF4, IFNA2
5thromboxane45 2411.8PF4, ALOX12, THPO, THBD, MPL, GATA1
6aspartate4510.8SULT1A3, ALOX12, STAT5A, TPO, JAK2, GATA1
7iloprost45 60 29 1113.8PPBP, THBD, THPO, PF4
8dexamethasone45 50 29 1113.8IFNA1, SULT1A3, PPBP, ALOX12
9hydroxyurea45 50 1112.8PF4, GATA1, IFNA1, IFNA2, PPBP, JAK2
10aspirin45 50 29 2413.8PPBP, MPL, SULT1A3, THPO, PF4, ALOX12
11agar4510.8THPO, MPL, PF4, IFNA2, JAK2, STAT5A
12cycloheximide4510.8ALOX12, GATA1, IFNA1
13epinephrine45 11 2412.8PF4, JAK2, SULT1A3, THPO, IFNA2, PPBP
14cytarabine45 50 1112.8STAT5A, IFNA1, GATA1, IFNA2, THPO
1512-o-tetradecanoylphorbol 13-acetate4510.7TPO, JAK2, IFNA2, PF4, ALOX12, GATA1
16txb24510.7ALOX12, PPBP, PF4, THBD
17agarose4510.7THPO, TPO, IFNA2, THBD, PPBP
18steroid4510.7IFNA2, JAK2, GATA1, THPO, TPO, SULT1A3
19fibrinogen4510.7THBD, THPO, PF4, SULT1A3, TPO, PPBP
2011-dehydrothromboxane b24510.7PF4, THBD, PPBP
21adp45 29 2412.7JAK2, STK16, PPBP, ALOX12, PF4, MPL
22thymidine45 2411.7THPO, PPBP, ALOX12, PF4, STAT5A, JAK2
23cysteine4510.7STAT5A, TPO, IFNA2, PPBP, JAK2, MPL
24nitric oxide45 11 2412.7SULT1A3, STAT5A, IL23A, TPO, JAK2, ALOX12
25estrogen4510.7KLF5, ALOX12, SULT1A3, THPO, THBD, STAT5A
26retinoic acid45 2411.7THPO, TPO, ALOX12, THBD, STAT5A, IFNA1
27prostacyclin4510.7THBD, THPO, PF4, ALOX12, PPBP
28imatinib45 50 1112.7JAK2, THPO, SOCS2, IFNA1, STAT5A
29fmlp4510.7THPO, PPBP, PF4, STAT5A, ALOX12
30vegf4510.7PF4, GATA1, JAK2, PPBP, STAT5A, IFNA2
31alanine4510.7KLF5, IFNA1, IFNA2, ABT1, JAK2, STAT5A
32lipid4510.7IFNA2, TPO, ALOX12, SULT1A3, STAT5A, PF4
33ifn-alpha4510.7STAT5A, SOCS2, IFNA2, IFNA1
34dmso4510.7PPBP, THPO, THBD, GATA1, PF4
35glucose4510.7PF4, IFNA2, THBD, PPBP, ALOX12
36tyrosine4510.6THPO, THBD, ABT1, STAT5A, PF4, IFNA1
37genistein45 29 60 2 11 2415.6JAK2, ALOX12, SULT1A3, STAT5A, THPO, TPO
38atp45 2911.6TPO, ALOX12, PPBP, JAK2, STAT5A, PF4
39arachidonic acid45 29 11 2413.6THPO, PF4, JAK2, PPBP, IFNA2, ALOX12
406-ketoprostaglandin f1alpha4510.6PPBP, PF4, THBD
41iron45 2411.6MPL, GATA1, IFNA2, THPO, TPO, ALOX12
42oligonucleotide4510.6GATA1, JAK2, TPO, SULT1A3, THPO, THBD
43lysine4510.6THPO, IFNA2, MPL, TPO, PF4, JAK2
445fluorouracil4510.5IFNA1, MPL, PF4, THPO, IFNA2
45thromboxane a245 2411.5PPBP, THPO, ALOX12, PF4
46phosphatidylinositol4510.4MPL, JAK2, IL23A, STAT5A, PPBP, SOCS2
47creatinine4510.4TPO, PPBP, THBD, PF4, SULT1A3, THPO
48matrigel4510.3STAT5A, JAK2
49zinc45 2411.3KLF5, IFNA2, GATA1, MPL, PF4, ABT1
50vitamin-e4510.1IFNA2, SULT1A3, THBD, JAK2

GO Terms for genes affiliated with Essential Thrombocythemia

Sources:
16Gene Ontology
See all sources

Biological processes related to Essential Thrombocythemia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascade involved in growth hormone signaling pathwayGO:06039710.6JAK2, SOCS2, STAT5A
2JAK-STAT cascadeGO:00725910.6STAT5A, SOCS2, JAK2
3positive regulation of tyrosine phosphorylation of Stat3 proteinGO:04251710.6IFNA2, JAK2, IL23A
4blood coagulationGO:00759610.5JAK2, PPBP, GATA1, MPL, CD177, PF4
5positive regulation of tumor necrosis factor productionGO:03276010.5JAK2, PF4, IL23A
6positive regulation of inflammatory responseGO:05072910.5JAK2, STAT5A, IL23A
7mammary gland epithelium developmentGO:06118010.4JAK2, STAT5A
8positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.4IL23A, JAK2
9platelet activationGO:03016810.3THPO, PF4, MPL, PPBP
10growth hormone receptor signaling pathwayGO:06039610.1SOCS2, JAK2

Molecular functions related to Essential Thrombocythemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth hormone receptor bindingGO:00513110.4JAK2, SOCS2

Products for genes affiliated with Essential Thrombocythemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Essential Thrombocythemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet