MCID: ESS003
MIFTS: 60

Essential Thrombocythemia malady

Genetic diseases, Rare diseases, Blood diseases, Cancer diseases categories

Summaries for Essential Thrombocythemia

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NIH Rare Diseases:42 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 based summary: Essential Thrombocythemia, also known as essential thrombocytosis, is related to myelofibrosis and polycythemia. 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.

Genetics Home Reference:22 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:64 Essential thrombocythaemia (ET; also known as essential thrombocytosis, essential thrombocythemia,... more...

Aliases & Classifications for Essential Thrombocythemia

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Essential Thrombocythemia, Aliases & Descriptions:

Name: Essential Thrombocythemia 42 23 22
Essential Thrombocytosis 42 22
Primary Thrombocythemia 42 22
Thrombocythemia, Hemorrhagic 61
Hemorrhagic Thrombocythemia 42
 
Thrombocythemia, Essential 61
Idiopathic Thrombocythemia 42
Thrombocythemia Essential 44
Thrombocytosis, Primary 61
Primary Thrombocytosis 22


Classifications:

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


Related Diseases for Essential Thrombocythemia

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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 129)
idRelated DiseaseScoreTop Affiliating Genes
1myelofibrosis32.0JAK2, THPO
2polycythemia31.9THPO, MPL, JAK2, CD177
3polycythemia vera31.6CD177, IFNA2, JAK2, MPL, THPO
4thrombocythemia 131.4THPO
5purpura31.2THPO
6myeloid leukemia31.1THPO, MPL, JAK2
7thrombocytosis30.8THPO, MPL, JAK2, IFNA2, CD177
8refractory anemia30.8THPO, MPL, JAK2
9sarcoma30.8THPO, TPO, JAK2
10venous thrombosis30.8JAK2, SULT1A3
11leukemia30.6THPO, MPL, JAK2, IFNA2, ALOX12, CD177
12systemic mastocytosis30.5JAK2, IFNA2
13aplastic anemia30.5THPO, MPL
14myelodysplastic syndromes30.4CD177, JAK2, MPL, THPO
15erythrocytosis30.4MPL, JAK2, CD177
16acute leukemia30.3JAK2, MPL, THPO
17thrombocytopenia30.2ALOX12, IFNA2, MPL, THPO
18hemorrhagic thrombocythemia30.2THPO, MPL, JAK2, IFNA2, CD177
19splenomegaly30.1IFNA2, JAK2, MPL, THPO
20chronic myeloid leukemia29.9THPO, MPL, JAK2, IFNA2, ALOX12, CD177
21atherosclerosis29.6KLF5, ALOX12, SULT1A3, TPO
22myocardial infarction10.7
23cerebritis10.6
24endotheliitis10.6
25acute myeloid leukemia10.5
26acute myocardial infarction10.5
27multiple myeloma10.5
28myeloma10.5
29thromboembolism10.5
30chronic lymphocytic leukemia10.5
31erythromelalgia10.5
32von willebrand's disease10.3
33retinitis10.3
34venous thromboembolism10.3
35inherited predisposition to essential thrombocythemia10.3
36congenital amegakaryocytic thrombocytopenia10.3MPL, THPO
37thrombocytopenia due to platelet alloimmunization10.3MPL, THPO
38pancytopenia10.3MPL, THPO
39severe congenital neutropenia10.3THPO, JAK2
40bone marrow cancer10.3JAK2, MPL
41acute biphenotypic leukemia10.3
42hematopoietic stem cell transplantation10.3
43hypertension10.3
44carotid artery dissection10.3
45coronary thrombosis10.3
46myeloid sarcoma10.3
47hairy cell leukemia10.3
48ischemia10.3
49thrombophilia10.3
50heparin-induced thrombocytopenia10.3

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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Genetic Tests for Essential Thrombocythemia

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Genetic tests related to Essential Thrombocythemia:

id Genetic test Affiliating Genes
1 Essential Thrombocythemia23

Anatomical Context for Essential Thrombocythemia

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MalaCards organs/tissues related to Essential Thrombocythemia:

32
Bone, Bone marrow, Myeloid, Spleen, Endothelial, Neutrophil, Liver, Lung, Whole blood, Spinal cord, Skin, Testes, Monocytes, T cells

Animal Models for Essential Thrombocythemia or affiliated genes

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MGI Mouse Phenotypes related to Essential Thrombocythemia:

36
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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Articles related to Essential Thrombocythemia:

(show top 50)    (show all 616)
idTitleAuthorsYear
1
Distinct driver mutation profiles of childhood and adolescent essential thrombocythemia. (25132652)
2015
2
Coexistence of JAK2V617F Mutation and BCR-ABL Translocation in a Pregnant Woman with Essential Thrombocythemia. (25332611)
2014
3
Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. (25037629)
2014
4
Phase III, single-arm study investigating the efficacy, safety, and tolerability of anagrelide as a second-line treatment in high-risk Japanese patients with essential thrombocythemia. (25160063)
2014
5
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
6
The therapeutic goals of essential thrombocythemia under the clouds of over-treatment and under-treatment. (23647225)
2013
7
Combination therapy of hydroxycarbamide with anagrelide inpatients with essential thrombocythemia in the evaluation ofXagrid(R): efficacy and long-term safety study. (24334294)
2013
8
The relationship of the active and latent forms of TGF-I^1 with marrow fibrosis in essential thrombocythemia and primary myelofibrosis. (22200991)
2012
9
Bilateral vertebral artery dissection and essential thrombocythemia with JAK2 mutation. (22677324)
2012
10
Disease characteristics and clinical outcome in young adults with essential thrombocythemia versus early/prefibrotic primary myelofibrosis. (22700720)
2012
11
Acral ischemia as a presenting manifestation of essential thrombocythemia. (21858443)
2011
12
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
13
The contribution of cyclooxygenase-1 and -2 to persistent thromboxane biosynthesis in aspirin-treated essential thrombocythemia: implications for antiplatelet therapy. (19887674)
2010
14
The role of the Platelet Function Analyzer (PFA)-100 and platelet aggregometry in the differentiation of essential thrombocythemia from reactive thrombocytosis. (19664802)
2010
15
Emergence of chronic myelogenous leukemia during treatment for essential thrombocythemia. (20146031)
2010
16
Essential thrombocythemia with deleted 5q--a genetic and morphologic hybrid? (20633767)
2010
17
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
18
JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis. (19616600)
2009
19
Comparison of clinicopathologic findings according to JAK2 V617F mutation in patients with essential thrombocythemia. (19093167)
2009
20
JAK2V617F mutation-positive childhood essential thrombocythemia associated with cerebral venous sinus thrombosis. (19707158)
2009
21
Blast phase of essential thrombocythemia: A single center study. (19691103)
2009
22
Reticulin accumulation in essential thrombocythemia: prognostic significance and relationship to therapy. (19364963)
2009
23
Thrombocytosis and leukocytosis interaction in vascular complications of essential thrombocythemia. (18587010)
2008
24
Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: incidence, risk factors, and effect of treatments. (18268279)
2008
25
Association of inv(3)(q21q26) with essential thrombocythemia in transformation. (18617063)
2008
26
The V617F JAK2 mutation and the increase in platelet CD36 in essential thrombocythemia are unrelated events. (17573918)
2007
27
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
28
Hematopoietic cell transplantation as curative therapy for idiopathic myelofibrosis, advanced polycythemia vera, and essential thrombocythemia. (17317589)
2007
29
Pulmonary hypertension in patients with essential thrombocythemia and reactive thrombocytosis. (17852711)
2007
30
Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. (17229651)
2007
31
Essential thrombocythemia in young individuals: frequency and risk factors for vascular events and evolution to myelofibrosis in 126 patients. (17519959)
2007
32
Thrombotic complications in essential thrombocythemia (ET): clinical facts and biochemical riddles. (16563815)
2006
33
Essential thrombocythemia beyond the first decade: life expectancy, long-term complication rates, and prognostic factors. (16471068)
2006
34
Arterial stenosis and atherothrombotic events in polycythemia vera and essential thrombocythemia. (18386616)
2006
35
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
36
The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). (16926301)
2006
37
Normal thrombopoietin and its receptor (c-mpl) genes in children with essential thrombocythemia. (15390356)
2005
38
A critical review of anagrelide therapy in essential thrombocythemia and related disorders. (16019501)
2005
39
Bone metabolism during interferon-alpha treatment of essential thrombocythemia. (15030122)
2004
40
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
41
The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis. (13679323)
2003
42
Management of essential thrombocythemia during pregnancy with aspirin, interferon alpha-2a and no treatment. A comparative analysis of the literature. (11978937)
2002
43
Historical perspective on the treatment of essential thrombocythemia and polycythemia vera. (9930553)
1999
44
Development of essential thrombocythemia in a patient treated with interferon alfa and pentostatin for hairy cell leukemia. (9517515)
1998
45
Clonality analysis of hematopoiesis and thrombopoietin levels in patients with essential thrombocythemia. (9669688)
1998
46
A possible role for thrombopoietin and its receptor c-mpl in the pathobiology of essential thrombocythemia. (9387200)
1997
47
Clonality analysis of hematopoiesis in essential thrombocythemia: advantages of studying T lymphocytes and platelets. (8978285)
1997
48
Erythromelalgia in essential thrombocythemia is characterized by platelet activation and endothelial cell damage but not by thrombin generation. (8883266)
1996
49
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
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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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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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 pathway59
9.4JAK2, MPL, THPO
4
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway59
9.4THPO, MPL, JAK2
5
Show member pathways
8.9IFNA2, JAK2, MPL, THPO
6
Show member pathways
Type III interferon signaling37
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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Compounds related to Essential Thrombocythemia according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1megapoietin4410.2MPL, THPO
2polyethylene4410.1THPO, IFNA2
3filgrastim44 1211.0IFNA2, THPO
4phorbol 12,13-dibutyrate449.9THPO, JAK2
5125i449.9IFNA2, TPO
6daidzein449.9SULT1A3, TPO
7ifosfamide44 1210.8THPO, IFNA2
8gp 130449.8JAK2, MPL, THPO
9gold449.7THPO, TPO, IFNA2
10polyethylene glycol449.7IFNA2, MPL, THPO
11agarose449.7IFNA2, TPO, THPO
12hydroxyurea44 50 1211.7IFNA2, JAK2, THPO
135fluorouracil449.6IFNA2, MPL, THPO
14thromboxane44 2510.6ALOX12, MPL, THPO
15ascorbic acid44 2510.5TPO, JAK2, IFNA2
16fibrinogen449.5SULT1A3, TPO, THPO
17vitamin-e449.5SULT1A3, JAK2, IFNA2
18leucovorin44 50 1211.4IFNA2, THPO
19matrigel449.4THPO, JAK2, ALOX12
20anagrelide44 1210.4IFNA2, JAK2, MPL, THPO
21agar449.4THPO, MPL, JAK2, IFNA2
22acetylcholine44 50 29 25 1213.3ALOX12, TPO, THPO
23oligonucleotide449.2THPO, TPO, SULT1A3, JAK2
24epinephrine44 25 1211.2IFNA2, JAK2, SULT1A3, THPO
25h2o2449.1THPO, TPO, JAK2, ALOX12
26nadph44 2510.1ALOX12, JAK2, TPO
27indomethacin44 29 60 1212.1THPO, JAK2, IFNA2, ALOX12
2812-o-tetradecanoylphorbol 13-acetate449.1TPO, JAK2, IFNA2, ALOX12
29arachidonic acid44 29 25 1212.1ALOX12, IFNA2, JAK2, THPO
30lysine449.1THPO, MPL, TPO, JAK2, IFNA2
31thymidine44 2510.0ALOX12, IFNA2, JAK2, THPO
32adp44 29 2511.0ALOX12, JAK2, MPL, THPO
33histidine449.0THPO, MPL, TPO, SULT1A3, IFNA2
34dexamethasone44 50 29 1211.9THPO, SULT1A3, JAK2, ALOX12
35steroid448.9THPO, TPO, SULT1A3, JAK2, IFNA2
36iron44 259.8THPO, MPL, TPO, IFNA2, ALOX12
37atp44 299.8THPO, TPO, JAK2, ALOX12
38oxygen44 259.8THPO, TPO, JAK2, IFNA2, ALOX12
39genistein44 29 60 3 25 1213.7ALOX12, JAK2, SULT1A3, TPO, THPO
40retinoic acid44 259.7THPO, TPO, JAK2, IFNA2, ALOX12
41vegf448.7THPO, MPL, JAK2, IFNA2, ALOX12
42nitric oxide44 25 1210.7THPO, TPO, SULT1A3, JAK2, ALOX12
43aspirin44 50 29 2511.7THPO, MPL, SULT1A3, JAK2, ALOX12
44glucose448.6THPO, JAK2, IFNA2, ALOX12
45aspartate448.6TPO, SULT1A3, JAK2, IFNA2, ALOX12
46alanine448.5KLF5, IFNA2, JAK2, MPL, THPO
47lipid448.5TPO, SULT1A3, JAK2, IFNA2, ALOX12
48cysteine448.2THPO, MPL, TPO, JAK2, IFNA2, KLF5
49tyrosine448.1THPO, MPL, TPO, JAK2, IFNA2, ALOX12
50estrogen447.8THPO, SULT1A3, JAK2, IFNA2, ALOX12, KLF5

GO Terms for genes affiliated with Essential Thrombocythemia

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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
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23GTR
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26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet