MCID: ESS003
MIFTS: 50

Essential Thrombocythemia malady

Blood diseases category

Summaries for Essential Thrombocythemia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: 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 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, bone marrow 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:63 Essential thrombocythaemia (ET, also known as Essential thrombocytosis or Essential thrombocythemia) or... more...

Aliases & Classifications for Essential Thrombocythemia

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42NIH Rare Diseases, 21Genetics Home Reference, 22GTR, 44Novoseek, 60UMLS
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Classifications:

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


Aliases & Descriptions:

essential thrombocythemia 42 22 21
essential thrombocytosis 42 21
primary thrombocythemia 42 21
hemorrhagic thrombocythemia 42
idiopathic thrombocythemia 42
thrombocythemia, essential 60
thrombocythemia essential 44
primary thrombocytosis 21


Related Diseases for Essential Thrombocythemia

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Sources:
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 175)
idRelated DiseaseScoreTop Affiliating Genes
1polycythemia31.7THPO, PPBP, JAK2, STAT5A, MPL, CD177
2polycythemia vera31.7IFNA2, IFNA1, JAK2, STAT5A, MPL, CD177
3myelofibrosis31.5JAK2, THPO
4leukemia31.2IFNA2, IFNA1, PPBP, JAK2, GATA1, STAT5A
5primary polycythemia31.0JAK2, STAT5A
6thrombocytosis31.0IFNA2, IFNA1, PPBP, JAK2, MPL, CD177
7myocardial infarction30.9TPO, SULT1A3, PF4, PPBP
8acute leukemia30.9JAK2, GATA1, STAT5A, MPL, THPO
9myeloid leukemia30.8SOCS2, JAK2, GATA1, STAT5A, MPL, THPO
10acute myocardial infarction30.7SULT1A3, THBD, PF4, PPBP
11myeloma30.7PF4, STAT5A, JAK2, IFNA1, IFNA2
12erythromelalgia30.5PPBP, PF4, THBD
13hemorrhagic thrombocythemia30.5CD177
14chronic myeloid leukemia30.5IFNA2, IFNA1, SOCS2, PPBP, JAK2, GATA1
15sarcoma30.5JAK2, THPO, TPO
16purpura30.3THPO
17hypertension30.3PPBP
18portal vein thrombosis30.3THPO
19thrombophilia30.3THBD, PF4, PPBP
20megakaryocytic leukemia30.3GATA1, PF4, THPO
21thrombocytopenia30.3IFNA2, IFNA1, PPBP, GATA1, MPL, PF4
22essential hypertension30.3PPBP, PF4, THBD, SULT1A3, ALOX12
23ischemia30.3PF4, JAK2
24antiphospholipid syndrome30.3SULT1A3, THBD, PF4
25chronic myeloproliferative disease30.1JAK2, MPL, THPO
26arthritis30.1ALOX12, SULT1A3, IL23A
27systemic mastocytosis30.1STAT5A, JAK2, IFNA2
28rheumatoid arthritis30.1PPBP, JAK2, PF4, IL23A, THPO, ALOX12
29stroke, ischemic30.1PPBP, PF4, THBD, SULT1A3
30diabetes mellitus30.1ALOX12, THBD, PF4
31aplastic anemia30.1GATA1, MPL, THPO
32atherosclerosis30.1KLF5, PPBP, PF4, THBD, SULT1A3, ALOX12
33protein c deficiency30.0THBD
34multiple sclerosis30.0THPO, IL23A, IFNA1
35nephrotic syndrome30.0PPBP
36cerebritis10.5
37acute myeloid leukemia10.5
38multiple myeloma10.5
39chronic lymphocytic leukemia10.4
40von willebrand's disease10.3
41retinitis10.3
42thrombocythemia 110.3
43inherited predisposition to essential thrombocythemia10.3
44lymphoid leukemia10.2
45carotid artery dissection10.2
46coronary thrombosis10.2
47myeloid sarcoma10.2
48hairy cell leukemia10.2
49sideroblastic anemia10.2
50vein disease10.2

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



Diseases related to essential thrombocythemia

Clinical Features for Essential Thrombocythemia

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Drugs & Therapeutics for Essential Thrombocythemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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 UMLS60/NDF-RT40:

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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32MalaCards
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MalaCards organs/tissues related to Essential Thrombocythemia:

32
Bone, Bone marrow, Spleen, Myeloid

Animal Models for Essential Thrombocythemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Essential Thrombocythemia:

36
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

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Genetic Variations for Essential Thrombocythemia

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Expression for genes affiliated with Essential Thrombocythemia

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1BioGPS, 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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Sources:
51QIAGEN, 53Reactome, 52R&D Systems, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology
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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
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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
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10.4SOCS2, JAK2, STAT5A, MPL, THPO
11
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10.4SOCS2, JAK2, STAT5A, MPL, THPO
12
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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

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Essential Thrombocythemia according to GeneCards/GeneDecks:

(show top 50)    (show all 103)
idCompoundScoreTop Affiliating Genes
1anagrelide44 1111.8IFNA2, IFNA1, JAK2, MPL, PF4, THPO
2indomethacin44 59 28 1113.8ALOX12, PF4
3oxygen44 2411.8JAK2, STAT5A, PF4, TPO
4polyethylene glycol4410.8MPL, IFNA1, THPO, THBD, PF4, IFNA2
5thromboxane44 2411.8PF4, ALOX12, THPO, THBD, MPL, GATA1
6aspartate4410.8SULT1A3, ALOX12, STAT5A, TPO, JAK2, GATA1
7iloprost44 59 28 1113.8PPBP, THBD, THPO, PF4
8dexamethasone44 49 28 1113.8IFNA1, SULT1A3, PPBP, ALOX12
9hydroxyurea44 49 1112.8PF4, GATA1, IFNA1, IFNA2, PPBP, JAK2
10aspirin44 49 28 2413.8PPBP, MPL, SULT1A3, THPO, PF4, ALOX12
11agar4410.8THPO, MPL, PF4, IFNA2, JAK2, STAT5A
12cycloheximide4410.8ALOX12, GATA1, IFNA1
13epinephrine44 11 2412.8PF4, JAK2, SULT1A3, THPO, IFNA2, PPBP
14cytarabine44 49 1112.8STAT5A, IFNA1, GATA1, IFNA2, THPO
1512-o-tetradecanoylphorbol 13-acetate4410.7TPO, JAK2, IFNA2, PF4, ALOX12, GATA1
16txb24410.7ALOX12, PPBP, PF4, THBD
17agarose4410.7THPO, TPO, IFNA2, THBD, PPBP
18steroid4410.7IFNA2, JAK2, GATA1, THPO, TPO, SULT1A3
19fibrinogen4410.7THBD, THPO, PF4, SULT1A3, TPO, PPBP
2011-dehydrothromboxane b24410.7PF4, THBD, PPBP
21adp44 28 2412.7JAK2, STK16, PPBP, ALOX12, PF4, MPL
22thymidine44 2411.7THPO, PPBP, ALOX12, PF4, STAT5A, JAK2
23cysteine4410.7STAT5A, TPO, IFNA2, PPBP, JAK2, MPL
24nitric oxide44 11 2412.7SULT1A3, STAT5A, IL23A, TPO, JAK2, ALOX12
25estrogen4410.7KLF5, ALOX12, SULT1A3, THPO, THBD, STAT5A
26retinoic acid44 2411.7THPO, TPO, ALOX12, THBD, STAT5A, IFNA1
27prostacyclin4410.7THBD, THPO, PF4, ALOX12, PPBP
28imatinib44 49 1112.7JAK2, THPO, SOCS2, IFNA1, STAT5A
29fmlp4410.7THPO, PPBP, PF4, STAT5A, ALOX12
30vegf4410.7PF4, GATA1, JAK2, PPBP, STAT5A, IFNA2
31alanine4410.7KLF5, IFNA1, IFNA2, ABT1, JAK2, STAT5A
32lipid4410.7IFNA2, TPO, ALOX12, SULT1A3, STAT5A, PF4
33ifn-alpha4410.7STAT5A, SOCS2, IFNA2, IFNA1
34dmso4410.7PPBP, THPO, THBD, GATA1, PF4
35glucose4410.7PF4, IFNA2, THBD, PPBP, ALOX12
36tyrosine4410.6THPO, THBD, ABT1, STAT5A, PF4, IFNA1
37genistein44 28 59 2 11 2415.6JAK2, ALOX12, SULT1A3, STAT5A, THPO, TPO
38atp44 2811.6TPO, ALOX12, PPBP, JAK2, STAT5A, PF4
39arachidonic acid44 28 11 2413.6THPO, PF4, JAK2, PPBP, IFNA2, ALOX12
406-ketoprostaglandin f1alpha4410.6PPBP, PF4, THBD
41iron44 2411.6MPL, GATA1, IFNA2, THPO, TPO, ALOX12
42oligonucleotide4410.6GATA1, JAK2, TPO, SULT1A3, THPO, THBD
43lysine4410.6THPO, IFNA2, MPL, TPO, PF4, JAK2
445fluorouracil4410.5IFNA1, MPL, PF4, THPO, IFNA2
45thromboxane a244 2411.5PPBP, THPO, ALOX12, PF4
46phosphatidylinositol4410.4MPL, JAK2, IL23A, STAT5A, PPBP, SOCS2
47creatinine4410.4TPO, PPBP, THBD, PF4, SULT1A3, THPO
48matrigel4410.3STAT5A, JAK2
49zinc44 2411.3KLF5, IFNA2, GATA1, MPL, PF4, ABT1
50vitamin-e4410.1IFNA2, SULT1A3, THBD, JAK2

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:

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Essential Thrombocythemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet