Details of Disease

General Information of Disease (ID: DISWWK11)

• Disease Name: Essential thrombocythemia
• Synonyms: idiopathic thrombocythemia; ET; essential thrombocythaemia; essential thrombocythemia; hemorrhagic thrombocythemia; essential thrombocytosis; primary thrombocytosis; primary thrombocythemia; essential thrombocytemia
• Disease Class: 3B63: Thrombocytosis
• Definition: A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It 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. (WHO, 2008)
• Disease Hierarchy:
  DIS5KAPA: Myeloproliferative neoplasm
  DISNG0P4: Thrombocytosis disease
  DISWWK11: Essential thrombocythemia
• ICD Code:
  ICD-11: ICD-11: 3B63.1Z
  ICD-9: ICD-9: 238.71, 289.9
  Expand ICD-11: '3B63.1Z
  Expand ICD-9: 238.71,289.9
• Disease Identifiers:
  MONDO ID: MONDO_0005029
  MESH ID: D013920
  UMLS CUI: C0040028
  MedGen ID: 11797
  Orphanet ID: 3318
  SNOMED CT ID: 109994006

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Anagrelide	DMSQ8MD	Approved	Small molecular drug	[1]
Ruxolitinib	DM7Q98D	Approved	Small molecular drug	[2]

This Disease is Treated as An Indication in 4 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
ITF2357	DMFZBNE	Phase 3	Small molecular drug	[3]
Jakafi	DMNORK8	Phase 3	NA	[1]
P-1101	DM7WYXJ	Phase 3	NA	[2]
Imetelstat	DMONWJ4	Phase 2/3	Small molecular drug	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 21 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BCL2L2	TTQ79W8	Limited	Altered Expression	[5]
HDAC11	TT8K17W	Limited	Biomarker	[6]
NAAA	TTMN4HY	Limited	Genetic Variation	[7]
CD34	TTZAVYN	moderate	Biomarker	[8]
ITGB3	TTJA1ZO	moderate	Altered Expression	[9]
MVD	TTE5J6X	moderate	Genetic Variation	[10]
TFPI	TT068JH	moderate	Altered Expression	[11]
ABL1	TT6B75U	Strong	Biomarker	[12]
ATXN3	TT6A17J	Strong	Biomarker	[13]
CPB1	TT4UJX5	Strong	Biomarker	[14]
CSF3R	TTC70AJ	Strong	Genetic Variation	[15]
EPOR	TTAUX24	Strong	Biomarker	[16]
FGF2	TTGKIED	Strong	Biomarker	[17]
IFNA2	TTSIUJ9	Strong	Biomarker	[18]
MYB	TT8V13P	Strong	Genetic Variation	[19]
PDGFA	TTSM78N	Strong	Biomarker	[17]
PDGFB	TTQA6SX	Strong	Biomarker	[17]
SERPIND1	TT8XSKJ	Strong	Genetic Variation	[20]
SH2B3	TT36N7Z	Strong	Genetic Variation	[21]
SLC14A1	TTWVJU1	Strong	Genetic Variation	[22]
USP14	TTVSYP9	Strong	Genetic Variation	[23]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC14A2	DT8QC7K	Strong	Genetic Variation	[22]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AKR1C4	DEAJN47	Strong	Genetic Variation	[24]
LDHC	DEQG7F9	Strong	Biomarker	[25]

This Disease Is Related to 26 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DERL1	OTJUS74N	moderate	Genetic Variation	[26]
EVPL	OTZIAFEK	moderate	Genetic Variation	[27]
FLI1	OT0EV3LX	moderate	Biomarker	[28]
NFE2	OTLM94BI	moderate	Biomarker	[29]
ACSM3	OT0AE1IV	Strong	Biomarker	[30]
AK6	OT84OHHP	Strong	Biomarker	[31]
BNIP3L	OTJKOMXE	Strong	Altered Expression	[32]
CD63	OT2UGZA9	Strong	Altered Expression	[33]
CNTNAP1	OT5Y03EU	Strong	Biomarker	[27]
DAAM1	OT0VHIYZ	Strong	Altered Expression	[34]
FANCB	OTMZTXB5	Strong	Biomarker	[35]
FIP1L1	OTF91GTL	Strong	Altered Expression	[36]
HBS1L	OTA3U1N6	Strong	Genetic Variation	[19]
LIG3	OT48SKET	Strong	Altered Expression	[37]
MLIP	OTMT7AII	Strong	Biomarker	[31]
MTUS1	OTBPALMU	Strong	Genetic Variation	[38]
MTUS2	OTDBDH2L	Strong	Genetic Variation	[38]
MYOM2	OTD2UOXW	Strong	Biomarker	[39]
PIAS3	OT3TWH9R	Strong	Altered Expression	[40]
PRAM1	OTZN3DWD	Strong	Biomarker	[41]
PRB1	OTV0SYMD	Strong	Genetic Variation	[42]
PTOV1	OT94WT5X	Strong	Biomarker	[43]
QTRT1	OTC33MCV	Strong	Genetic Variation	[23]
RARS1	OTHPZ6JN	Strong	Genetic Variation	[44]
SRSF2	OTVDHO6U	Strong	Altered Expression	[45]
TET2	OTKKT03T	Strong	Genetic Variation	[46]

References

• [1] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [2] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [3] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7490).
• [4] ClinicalTrials.gov (NCT02426086) Study to Evaluate Activity of 2 Dose Levels of Imetelstat in Participants With Intermediate-2 or High-Risk Myelofibrosis (MF) Previously Treated With Janus Kinase (JAK) Inhibitor. U.S. National Institutes of Health.
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• [24] Fluorescence in situ hybridization analysis of 25 cases of idiopathic myelofibrosis and two cases of secondary myelofibrosis: monoallelic loss of RB1, D13S319 and D13S25 loci associated with cytogenetic deletion and translocation involving 13q14.Br J Haematol. 2001 May;113(2):365-8. doi: 10.1046/j.1365-2141.2001.02754.x.
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• [26] Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.Leuk Res. 2011 Sep;35(9):1188-92. doi: 10.1016/j.leukres.2011.02.001. Epub 2011 Mar 3.
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• [29] A role of NF-E2 in chronic inflammation and clonal evolution in essential thrombocythemia, polycythemia vera and myelofibrosis?.Leuk Res. 2014 Feb;38(2):263-6. doi: 10.1016/j.leukres.2013.07.002. Epub 2013 Aug 9.
• [30] Specific mechanisms of subarachnoid hemorrhage accompanied by ischemic stroke in essential thrombocythemia: two case reports and a literature review.J Neurol. 2019 Aug;266(8):1869-1878. doi: 10.1007/s00415-019-09347-4. Epub 2019 May 2.
• [31] Clonal hemopoiesis and risk of thrombosis in young female patients with essential thrombocythemia.Exp Hematol. 2001 Jun;29(6):670-6. doi: 10.1016/s0301-472x(01)00640-3.
• [32] Gene expression profiling of normal and malignant CD34-derived megakaryocytic cells.Blood. 2004 Nov 15;104(10):3126-35. doi: 10.1182/blood-2003-07-2597. Epub 2004 Jul 22.
• [33] JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients.Int J Hematol. 2014 Jan;99(1):32-40. doi: 10.1007/s12185-013-1475-9. Epub 2013 Nov 26.
• [34] Systematic analysis of microRNA fingerprints in thrombocythemic platelets using integrated platforms.Blood. 2012 Oct 25;120(17):3575-85. doi: 10.1182/blood-2012-02-411264. Epub 2012 Aug 6.
• [35] Spontaneous evolution of essential thrombocythaemia into acute megakaryoblastic leukaemia with trisomy 8, trisomy 21 and cutaneous involvement.Eur J Haematol. 2003 Dec;71(6):466-9. doi: 10.1046/j.0902-4441.2003.00139.x.
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• [40] Decreased expression of PIAS1 and PIAS3 in essential thrombocythemia patients.Genet Mol Res. 2013 Nov 18;12(4):5617-22. doi: 10.4238/2013.November.18.10.
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