MCID: ESS003
MIFTS: 59

Essential Thrombocythemia malady

Genetic diseases, Rare diseases, Blood diseases, Cancer diseases categories
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Summaries for Essential Thrombocythemia

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43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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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 and polycythemia vera. An important gene associated with Essential Thrombocythemia is THPO (thrombopoietin), and among its related pathways are Integrin alphaIIb beta3 signaling and Type II interferon signaling (IFNG). The drugs hydroxyurea and interferon alfa-2a and the compounds megapoietin and polyethylene have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related mouse phenotypes are hematopoietic system and immune system.

Wikipedia:65 Essential thrombocythaemia (ET; also known as essential thrombocytosis, essential thrombocythemia,... more...

Aliases & Classifications for Essential Thrombocythemia

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43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 45Novoseek, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Blood diseases


Aliases & Descriptions:

essential thrombocythemia 43 22 21
essential thrombocytosis 43 21
primary thrombocythemia 43 21
hemorrhagic thrombocythemia 43
idiopathic thrombocythemia 43
thrombocythemia, essential 62
thrombocythemia essential 45
primary thrombocytosis 21


Related Diseases for Essential Thrombocythemia

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17GeneCards, 18GeneDecks
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Diseases in the Thrombocythemia 1 family:

essential thrombocythemia Thrombocythemia 2
Thpo-Related Essential Thrombocythemia Thrombocythemia 3

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1polycythemia31.8THPO, MPL, JAK2, CD177
2polycythemia vera31.7CD177, IFNA2, JAK2, MPL, THPO
3myelofibrosis31.6JAK2, THPO
4leukemia31.1THPO, MPL, JAK2, IFNA2, ALOX12, CD177
5thrombocytosis31.0THPO, MPL, JAK2, IFNA2, CD177
6myeloid leukemia30.9THPO, MPL, JAK2
7thrombocythemia 130.8THPO
8sarcoma30.6THPO, TPO, JAK2
9venous thrombosis30.6JAK2, SULT1A3
10refractory anemia30.6THPO, MPL, JAK2
11purpura30.6THPO
12myelodysplastic syndromes30.4CD177, JAK2, MPL, THPO
13myeloproliferative disorder30.3CD177, ALOX12, IFNA2, JAK2, MPL, THPO
14chronic myeloid leukemia30.3THPO, MPL, JAK2, IFNA2, ALOX12, CD177
15thrombocytopenia30.3ALOX12, IFNA2, MPL, THPO
16chronic myelomonocytic leukemia30.2MPL, JAK2
17systemic mastocytosis30.2JAK2, IFNA2
18aplastic anemia30.2THPO, MPL
19chronic myeloproliferative disease30.2THPO, MPL, JAK2
20erythrocytosis30.2MPL, JAK2, CD177
21acute leukemia30.2JAK2, MPL, THPO
22splenomegaly30.1IFNA2, JAK2, MPL, THPO
23hemorrhagic thrombocythemia30.1THPO, MPL, JAK2, IFNA2, CD177
24atherosclerosis30.0KLF5, ALOX12, SULT1A3, TPO
25myocardial infarction10.6
26endotheliitis10.6
27cerebritis10.5
28acute myeloid leukemia10.5
29multiple myeloma10.5
30myeloma10.5
31thromboembolism10.5
32acute myocardial infarction10.5
33chronic lymphocytic leukemia10.4
34venous thromboembolism10.4
35erythromelalgia10.3
36von willebrand's disease10.3
37retinitis10.3
38acute biphenotypic leukemia10.3
39inherited predisposition to essential thrombocythemia10.3
40carotid artery dissection10.2
41coronary thrombosis10.2
42myeloid sarcoma10.2
43hairy cell leukemia10.2
44ischemia10.2
45thrombophilia10.2
46heparin-induced thrombocytopenia10.2
47thpo-related essential thrombocythemia10.2
48hematopoietic stem cell transplantation10.2
49limb ischemia10.2
50angina pectoris10.1

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



Diseases related to essential thrombocythemia

Symptoms for Essential Thrombocythemia

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Drugs & Therapeutics for Essential Thrombocythemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Genetic Tests for Essential Thrombocythemia

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22GTR
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Genetic tests related to Essential Thrombocythemia:

id Genetic test Affiliating Genes
1 Essential Thrombocythemia22

Anatomical Context for Essential Thrombocythemia

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33MalaCards
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MalaCards organs/tissues related to Essential Thrombocythemia:

33
Bone, Bone marrow, Myeloid, Spleen, Endothelial, Liver, Lung, T cells, Monocytes, Whole blood, Testes, Spinal cord, Skin

Animal Models for Essential Thrombocythemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Essential Thrombocythemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.4ALOX12, JAK2, TPO, MPL, THPO
2MP:00053877.3KLF5, THPO, MPL, TPO, JAK2, ALOX12

Publications for Essential Thrombocythemia

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52PubMed
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Articles related to Essential Thrombocythemia:

(show top 50)    (show all 596)
idTitleAuthorsYear
1
Characterization of different regimens for initiating anagrelide in patients with essential thrombocythemia who are intolerant or refractory to their current cytoreductive therapy: results from the multicenter FOX study of 177 patients in France. (24118452)
2013
2
The therapeutic goals of essential thrombocythemia under the clouds of over-treatment and under-treatment. (23647225)
2013
3
Combination therapy of hydroxycarbamide with anagrelide inpatients with essential thrombocythemia in the evaluation ofXagrid(R): efficacy and long-term safety study. (24334294)
2013
4
The relationship of the active and latent forms of TGF-I^1 with marrow fibrosis in essential thrombocythemia and primary myelofibrosis. (22200991)
2012
5
Bilateral vertebral artery dissection and essential thrombocythemia with JAK2 mutation. (22677324)
2012
6
Disease characteristics and clinical outcome in young adults with essential thrombocythemia versus early/prefibrotic primary myelofibrosis. (22700720)
2012
7
Acral ischemia as a presenting manifestation of essential thrombocythemia. (21858443)
2011
8
Screening for MPL mutations in essential thrombocythemia and primary myelofibrosis: normal Mpl expression and absence of constitutive STAT3 and STAT5 activation in MPLW515L-positive platelets. (20113333)
2010
9
The contribution of cyclooxygenase-1 and -2 to persistent thromboxane biosynthesis in aspirin-treated essential thrombocythemia: implications for antiplatelet therapy. (19887674)
2010
10
The role of the Platelet Function Analyzer (PFA)-100 and platelet aggregometry in the differentiation of essential thrombocythemia from reactive thrombocytosis. (19664802)
2010
11
Emergence of chronic myelogenous leukemia during treatment for essential thrombocythemia. (20146031)
2010
12
Essential thrombocythemia with deleted 5q--a genetic and morphologic hybrid? (20633767)
2010
13
Is the absence of JAK2 mutation a risk factor for bleeding in essential thrombocythemia? An analysis of 106 patients. (20104275)
2010
14
JAK2 V617F mutation in essential thrombocythemia: correlation with clinical characteristics, response to therapy and long-term outcome in a cohort of 275 patients. (19235016)
2009
15
JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis. (19616600)
2009
16
Comparison of clinicopathologic findings according to JAK2 V617F mutation in patients with essential thrombocythemia. (19093167)
2009
17
JAK2V617F mutation-positive childhood essential thrombocythemia associated with cerebral venous sinus thrombosis. (19707158)
2009
18
Blast phase of essential thrombocythemia: A single center study. (19691103)
2009
19
Reticulin accumulation in essential thrombocythemia: prognostic significance and relationship to therapy. (19364963)
2009
20
Thrombocytosis and leukocytosis interaction in vascular complications of essential thrombocythemia. (18587010)
2008
21
Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: incidence, risk factors, and effect of treatments. (18268279)
2008
22
Association of inv(3)(q21q26) with essential thrombocythemia in transformation. (18617063)
2008
23
Leukocytosis is linked to thrombosis at diagnosis, while JAK2 V617F mutation is associated with thrombosis during the course of essential thrombocythemia. (18409076)
2008
24
The V617F JAK2 mutation and the increase in platelet CD36 in essential thrombocythemia are unrelated events. (17573918)
2007
25
A higher JAK2 V617F-mutated clone is observed in platelets than in granulocytes from essential thrombocythemia patients, but not in patients with polycythemia vera and primary myelofibrosis. (17361221)
2007
26
Hematopoietic cell transplantation as curative therapy for idiopathic myelofibrosis, advanced polycythemia vera, and essential thrombocythemia. (17317589)
2007
27
Pulmonary hypertension in patients with essential thrombocythemia and reactive thrombocytosis. (17852711)
2007
28
Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. (17229651)
2007
29
Essential thrombocythemia in young individuals: frequency and risk factors for vascular events and evolution to myelofibrosis in 126 patients. (17519959)
2007
30
Bone marrow renin-angiotensin system expression in polycythemia vera and essential thrombocythemia depends on JAK2 mutational status. (17873518)
2007
31
Thrombotic complications in essential thrombocythemia (ET): clinical facts and biochemical riddles. (16563815)
2006
32
Essential thrombocythemia beyond the first decade: life expectancy, long-term complication rates, and prognostic factors. (16471068)
2006
33
Arterial stenosis and atherothrombotic events in polycythemia vera and essential thrombocythemia. (18386616)
2006
34
The role of JAK2 V617F mutation, spontaneous erythropoiesis and megakaryocytopoiesis, hypersensitive platelets, activated leukocytes, and endothelial cells in the etiology of thrombotic manifestations in polycythemia vera and essential thrombocythemia. (16810614)
2006
35
The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). (16926301)
2006
36
Normal thrombopoietin and its receptor (c-mpl) genes in children with essential thrombocythemia. (15390356)
2005
37
A critical review of anagrelide therapy in essential thrombocythemia and related disorders. (16019501)
2005
38
Bone metabolism during interferon-alpha treatment of essential thrombocythemia. (15030122)
2004
39
The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis. (13679323)
2003
40
Management of essential thrombocythemia during pregnancy with aspirin, interferon alpha-2a and no treatment. A comparative analysis of the literature. (11978937)
2002
41
Hypersensitivity of circulating progenitor cells to megakaryocyte growth and development factor (PEG-rHu MGDF) in essential thrombocythemia. (11071622)
2000
42
Historical perspective on the treatment of essential thrombocythemia and polycythemia vera. (9930553)
1999
43
Development of essential thrombocythemia in a patient treated with interferon alfa and pentostatin for hairy cell leukemia. (9517515)
1998
44
Clonality analysis of hematopoiesis and thrombopoietin levels in patients with essential thrombocythemia. (9669688)
1998
45
A possible role for thrombopoietin and its receptor c-mpl in the pathobiology of essential thrombocythemia. (9387200)
1997
46
Clonality analysis of hematopoiesis in essential thrombocythemia: advantages of studying T lymphocytes and platelets. (8978285)
1997
47
Erythromelalgia in essential thrombocythemia is characterized by platelet activation and endothelial cell damage but not by thrombin generation. (8883266)
1996
48
Platelet hyperactivation in patients with essential thrombocythemia is not associated with vascular endothelial cell damage as judged by the level of plasma thrombomodulin, protein S, PAI-1, t-PA and vWF. (8128427)
1993
49
Interferon therapy in essential thrombocythemia]. (8273365)
1993
50
Essential thrombocythemia developing into refractory anemia and complicated by acute myeloid leukemia. (1286233)
1992

Variations for Essential Thrombocythemia

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Expression for genes affiliated with Essential Thrombocythemia

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 5Cell Signaling Technology, 60Thomson Reuters, 54R&D Systems, 53QIAGEN, 30KEGG
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Pathways related to Essential Thrombocythemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8MPL, THPO
29.6IFNA2, JAK2
3
Show member pathways
Development Thrombopoetin signaling via JAK STAT pathway60
9.4JAK2, MPL, THPO
4
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.4THPO, MPL, JAK2
5
Show member pathways
8.9IFNA2, JAK2, MPL, THPO
6
Show member pathways
Type III interferon signaling38
8.9IFNA2, JAK2, TPO, MPL
7
Show member pathways
8.9MPL, TPO, JAK2, IFNA2
8
Show member pathways
8.6THPO, MPL, JAK2, IFNA2, CD177

Compounds for genes affiliated with Essential Thrombocythemia

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45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 29IUPHAR, 61Tocris Bioscience, 3BitterDB
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Compounds related to Essential Thrombocythemia according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1megapoietin4510.2MPL, THPO
2polyethylene4510.1THPO, IFNA2
3filgrastim45 1111.0IFNA2, THPO
4phorbol 12,13-dibutyrate459.9THPO, JAK2
5125i459.9IFNA2, TPO
6daidzein459.9SULT1A3, TPO
7ifosfamide45 1110.8THPO, IFNA2
8gp 130459.8JAK2, MPL, THPO
9gold459.7THPO, TPO, IFNA2
10polyethylene glycol459.7IFNA2, MPL, THPO
11agarose459.7IFNA2, TPO, THPO
12hydroxyurea45 51 1111.7IFNA2, JAK2, THPO
135fluorouracil459.6IFNA2, MPL, THPO
14thromboxane45 2410.6ALOX12, MPL, THPO
15ascorbic acid45 2410.5TPO, JAK2, IFNA2
16fibrinogen459.5SULT1A3, TPO, THPO
17vitamin-e459.5SULT1A3, JAK2, IFNA2
18leucovorin45 51 1111.4IFNA2, THPO
19matrigel459.4THPO, JAK2, ALOX12
20anagrelide45 1110.4IFNA2, JAK2, MPL, THPO
21agar459.4THPO, MPL, JAK2, IFNA2
22acetylcholine45 51 29 24 1113.3ALOX12, TPO, THPO
23oligonucleotide459.2THPO, TPO, SULT1A3, JAK2
24epinephrine45 24 1111.2IFNA2, JAK2, SULT1A3, THPO
25h2o2459.1THPO, TPO, JAK2, ALOX12
26nadph45 2410.1ALOX12, JAK2, TPO
27indomethacin45 29 61 1112.1THPO, JAK2, IFNA2, ALOX12
2812-o-tetradecanoylphorbol 13-acetate459.1TPO, JAK2, IFNA2, ALOX12
29arachidonic acid45 29 24 1112.1ALOX12, IFNA2, JAK2, THPO
30lysine459.1THPO, MPL, TPO, JAK2, IFNA2
31thymidine45 2410.0ALOX12, IFNA2, JAK2, THPO
32adp45 29 2411.0ALOX12, JAK2, MPL, THPO
33histidine459.0THPO, MPL, TPO, SULT1A3, IFNA2
34dexamethasone45 51 29 1111.9THPO, SULT1A3, JAK2, ALOX12
35steroid458.9THPO, TPO, SULT1A3, JAK2, IFNA2
36iron45 249.8THPO, MPL, TPO, IFNA2, ALOX12
37atp45 299.8THPO, TPO, JAK2, ALOX12
38oxygen45 249.8THPO, TPO, JAK2, IFNA2, ALOX12
39genistein45 29 61 3 24 1113.7ALOX12, JAK2, SULT1A3, TPO, THPO
40retinoic acid45 249.7THPO, TPO, JAK2, IFNA2, ALOX12
41vegf458.7THPO, MPL, JAK2, IFNA2, ALOX12
42nitric oxide45 24 1110.7THPO, TPO, SULT1A3, JAK2, ALOX12
43aspirin45 51 29 2411.7THPO, MPL, SULT1A3, JAK2, ALOX12
44glucose458.6THPO, JAK2, IFNA2, ALOX12
45aspartate458.6TPO, SULT1A3, JAK2, IFNA2, ALOX12
46alanine458.5KLF5, IFNA2, JAK2, MPL, THPO
47lipid458.5TPO, SULT1A3, JAK2, IFNA2, ALOX12
48cysteine458.2THPO, MPL, TPO, JAK2, IFNA2, KLF5
49tyrosine458.1THPO, MPL, TPO, JAK2, IFNA2, ALOX12
50estrogen457.8THPO, SULT1A3, JAK2, IFNA2, ALOX12, KLF5

GO Terms for genes affiliated with Essential Thrombocythemia

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16Gene Ontology
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Biological processes related to Essential Thrombocythemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.3JAK2, IFNA2
2positive regulation of cell proliferationGO:0082848.6KLF5, ALOX12, JAK2
3blood coagulationGO:0075968.5CD177, IFNA2, JAK2, MPL, THPO

Products for genes affiliated with Essential Thrombocythemia

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Sources for Essential Thrombocythemia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet