Details of Disease

General Information of Disease (ID: DIS5KAPA)

Disease Name	Myeloproliferative neoplasm
Synonyms	CMPD, U; chronic myeloproliferative disorders; myeloproliferative neoplasms; chronic myeloproliferative neoplasm; MPN; chronic myeloproliferative disease; chronic myeloproliferative disorder; myeloproliferative neoplasm, chronic; myeloproliferative tumor; myeloproliferative tumour; MPD; myeloproliferative neoplasm; myeloproliferative disorder; CMPD
Disease Class	2A20: Myeloproliferative neoplasm
Definition	A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)
Disease Hierarchy	DISFDC86: Bone marrow cancer DISAT1Z9: Advanced cancer DIS2YOWO: Myeloid neoplasm DIS9E81G: Myeloid hemopathy DIS5KAPA: Myeloproliferative neoplasm
ICD Code	ICD-11 ICD-11: 2A20 ICD-10 ICD-10: D47.7
Disease Identifiers	MONDO ID MONDO_0020076 UMLS CUI C1292778 MedGen ID 220955 Orphanet ID 98274 SNOMED CT ID 109993000

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 12 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Alemtuzumab	DMZL3IV	Approved	Antibody	[1]
Azacitidine	DMTA5OE	Approved	Small molecular drug	[2]
Fludarabine	DMVRLT7	Approved	Small molecular drug	[3]
Imatinib	DM7RJXL	Approved	Small molecular drug	[4]
Melphalan	DMOLNHF	Approved	Small molecular drug	[5]
Methylprednisolone	DM4BDON	Approved	Small molecular drug	[6]
Mycophenolate mofetil	DMPQAGE	Approved	Small molecular drug	[7]
Mycophenolic acid	DMRBMAU	Approved	NA	[8]
Prednisolone	DMQ8FR2	Approved	Small molecular drug	[9]
Ruxolitinib	DM7Q98D	Approved	Small molecular drug	[10]
Tacrolimus	DMZ7XNQ	Approved	Small molecular drug	[11]
Vidarabine	DM0N85H	Approved	Small molecular drug	[12]
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⏷ Show the Full List of 12 Drug(s)

This Disease is Treated as An Indication in 6 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
CPI-0610	DMPXOYJ	Phase 3	NA	[13]
LY2784544	DMZASMP	Phase 2	Small molecular drug	[14]
TEW-7197	DM2LBC3	Phase 2	NA	[15]
SL-401	DMOCHVE	Phase 1/2	NA	[13]
OTSSP167	DMF5KNO	Phase 1	Small molecular drug	[13]
VAC85135	DM0J1R2	Phase 1	Vaccine	[16]
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⏷ Show the Full List of 6 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 46 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CBLB	TTHRAIJ	Limited	Genetic Variation	[17]
CD34	TTZAVYN	Limited	Genetic Variation	[18]
CHIT1	TTDYX6T	Limited	Biomarker	[19]
DNMT3A	TTJUALD	Limited	Genetic Variation	[20]
DTL	TT8396I	Limited	Biomarker	[21]
FECH	TTQ6VF4	Limited	Genetic Variation	[22]
FLT3	TTGJCWZ	Limited	Genetic Variation	[23]
GP6	TTTJUVZ	Limited	Altered Expression	[24]
HDAC8	TTT6LFV	Limited	Biomarker	[25]
IL31	TT1RJXK	Limited	Biomarker	[26]
JAK1	TT6DM01	Limited	Biomarker	[27]
JMJD1C	TTBISK4	Limited	Altered Expression	[28]
KIT	TTX41N9	Limited	Biomarker	[29]
LYN	TT1RWNJ	Limited	Biomarker	[30]
MYH7	TTNIMDP	Limited	Genetic Variation	[31]
NAAA	TTMN4HY	Limited	Genetic Variation	[32]
NPM1	TTHBS98	Limited	Genetic Variation	[20]
NPY1R	TTRK9JT	Limited	Biomarker	[33]
NPY5R	TTY6EWA	Limited	Biomarker	[33]
PDGFRA	TT8FYO9	Limited	Biomarker	[34]
RUNX1	TTWIN3H	Limited	Biomarker	[35]
STK4	TTCPLVN	Limited	Biomarker	[36]
MTTP	TTUS1RD	Disputed	Genetic Variation	[37]
MYB	TT8V13P	Disputed	Genetic Variation	[38]
ACVR1	TTJNBQA	Strong	Genetic Variation	[39]
CEL	TTTRNQW	Strong	Biomarker	[40]
CENPE	TTZD5QR	Strong	Genetic Variation	[41]
CSF3R	TTC70AJ	Strong	Genetic Variation	[42]
EBI3	TTJF68X	Strong	Genetic Variation	[43]
EPOR	TTAUX24	Strong	Biomarker	[44]
GMNN	TT390KA	Strong	Biomarker	[45]
HDAC11	TT8K17W	Strong	Biomarker	[46]
HMGA2	TTSTVM0	Strong	Altered Expression	[47]
IDH1	TTV2A1R	Strong	Biomarker	[48]
IGF1	TTT6LOU	Strong	Biomarker	[49]
IRF8	TTHUBNK	Strong	Genetic Variation	[50]
JAK3	TTT7PJU	Strong	Genetic Variation	[51]
KITLG	TTDJ51N	Strong	Genetic Variation	[52]
MVD	TTE5J6X	Strong	Biomarker	[53]
NR0B2	TT25A9Q	Strong	Biomarker	[54]
PTPN6	TT369M5	Strong	Altered Expression	[55]
SOCS1	TT8COJM	Strong	Altered Expression	[56]
SOCS3	TTI0ME6	Strong	Genetic Variation	[57]
THPO	TTCG5PE	Strong	Genetic Variation	[58]
TYK2	TTBYWP2	Strong	Biomarker	[59]
PDGFRB	TTI7421	Definitive	Genetic Variation	[60]
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⏷ Show the Full List of 46 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A21	DT2UQYR	Limited	Genetic Variation	[61]
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This Disease Is Related to 77 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AADAC	OT8VACT2	Limited	Biomarker	[62]
BCAM	OTHZOPSD	Limited	Biomarker	[63]
BLOC1S2	OTUR3E76	Limited	Genetic Variation	[64]
CALB1	OTM7IXDG	Limited	Genetic Variation	[65]
CCDC28A	OTSWUMXT	Limited	Biomarker	[66]
CCDC88C	OTIU02BS	Limited	Genetic Variation	[60]
CNTNAP1	OT5Y03EU	Limited	Genetic Variation	[67]
COPS6	OTG9AAG0	Limited	Biomarker	[68]
CSH1	OT33HTRR	Limited	Biomarker	[69]
CSH2	OTW8JVAN	Limited	Biomarker	[69]
DDX41	OT6KEIHP	Limited	Genetic Variation	[70]
DNA2	OT4DJFFU	Limited	Genetic Variation	[71]
EFCAB6	OT5G7GKB	Limited	Genetic Variation	[72]
ERCC8	OT0T4WKI	Limited	Biomarker	[69]
FANCB	OTMZTXB5	Limited	Biomarker	[73]
FBXW4	OTEGSZOX	Limited	Biomarker	[62]
FGFR1OP2	OTAHO1ZC	Limited	Genetic Variation	[74]
HBS1L	OTA3U1N6	Limited	Genetic Variation	[38]
IFT88	OTDR3VBD	Limited	Biomarker	[75]
IL27RA	OTSQBAKI	Limited	Genetic Variation	[76]
JARID2	OT14UM8H	Limited	Genetic Variation	[77]
L1TD1	OTB2W20Y	Limited	Genetic Variation	[78]
LDB3	OTGQL1AM	Limited	Biomarker	[79]
MEIS1	OTH9DKAD	Limited	Altered Expression	[80]
NUMA1	OTTKAVG4	Limited	Biomarker	[81]
NUP98	OTNT12G2	Limited	Biomarker	[82]
PAMR1	OT83ZH5U	Limited	Biomarker	[21]
PIGA	OT51UWUR	Limited	Biomarker	[83]
PLEK2	OTUBWUUK	Limited	Biomarker	[84]
POFUT1	OTOBJZIT	Limited	Altered Expression	[85]
PRSS27	OTC4G4UF	Limited	Biomarker	[86]
PSMA7	OTPHI6ST	Limited	Genetic Variation	[87]
PTCH2	OTOQ0K9V	Limited	Biomarker	[88]
RARS1	OTHPZ6JN	Limited	Biomarker	[89]
RECQL5	OTVZMP1Q	Limited	Biomarker	[90]
RRBP1	OT4ZTPTM	Limited	Biomarker	[91]
SETBP1	OTKGCOSR	Limited	Biomarker	[92]
SOAT1	OTB4Y5RJ	Limited	Biomarker	[93]
SPRED1	OTKX7P8G	Limited	Genetic Variation	[94]
STAT5A	OTBSJGN3	Limited	Biomarker	[84]
STAT5B	OTZVPEBT	Limited	Biomarker	[84]
TET3	OT76U3YF	Limited	Posttranslational Modification	[95]
TRIM33	OT0KS4J7	Limited	Genetic Variation	[96]
IKZF1	OTCW1FKL	Disputed	Biomarker	[35]
BCS1L	OT5PY5CY	Strong	Biomarker	[97]
CCP110	OTNOVXA2	Strong	Genetic Variation	[98]
CD177	OTS79FNF	Strong	Genetic Variation	[99]
CDT1	OTVY53VG	Strong	Biomarker	[100]
CENPF	OT7AG0SW	Strong	Biomarker	[101]
CEP85L	OTSHJFOT	Strong	Genetic Variation	[102]
CHTOP	OTMMNZ65	Strong	Genetic Variation	[39]
CISH	OT8T5NYL	Strong	Genetic Variation	[35]
CNTRL	OTQI3VBA	Strong	Genetic Variation	[98]
ETV6	OTCZMG61	Strong	Biomarker	[103]
FIP1L1	OTF91GTL	Strong	Genetic Variation	[34]
FUT1	OTODG57A	Strong	Genetic Variation	[104]
GATA1	OTX1R7O1	Strong	Altered Expression	[58]
HOXA10	OTB6GQ09	Strong	Altered Expression	[105]
HOXA9	OTKNK5H0	Strong	Genetic Variation	[106]
IL18R1	OT83XMPQ	Strong	Genetic Variation	[43]
IL3	OT0CQ35N	Strong	Biomarker	[107]
L3MBTL1	OT8M52QY	Strong	Biomarker	[108]
LIG4	OT40DNXU	Strong	Genetic Variation	[109]
MECOM	OTP983W8	Strong	Genetic Variation	[38]
NFE2	OTLM94BI	Strong	Altered Expression	[28]
NIN	OTVH3M4Z	Strong	Genetic Variation	[110]
ORC1	OTHWU8IJ	Strong	Biomarker	[111]
ORC4	OT3ACTST	Strong	Biomarker	[100]
ORC6	OTKQN3KP	Strong	Biomarker	[100]
PCM1	OTFM133C	Strong	Genetic Variation	[112]
PRB1	OTV0SYMD	Strong	Genetic Variation	[113]
RUNX1T1	OT30DED5	Strong	Altered Expression	[114]
SOCS2	OTBPNKJQ	Strong	Altered Expression	[115]
SRSF2	OTVDHO6U	Strong	Genetic Variation	[48]
TRAIP	OTMPT9Y2	Strong	Biomarker	[116]
ASXL1	OTX931AW	Definitive	Genetic Variation	[117]
CDC6	OTX93FE7	Definitive	Biomarker	[118]
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⏷ Show the Full List of 77 DOT(s)

References

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2	Azacitidine FDA Label
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36	Hippo kinase loss contributes to del(20q) hematologic malignancies through chronic innate immune activation.Blood. 2019 Nov 14;134(20):1730-1744. doi: 10.1182/blood.2019000170.
37	Identification of oncostatin M as a JAK2 V617F-dependent amplifier of cytokine production and bone marrow remodeling in myeloproliferative neoplasms.FASEB J. 2012 Feb;26(2):894-906. doi: 10.1096/fj.11-193078. Epub 2011 Nov 3.
38	MECOM, HBS1L-MYB, THRB-RARB, JAK2, and TERT polymorphisms defining the genetic predisposition to myeloproliferative neoplasms: A study on 939 patients.Am J Hematol. 2018 Jan;93(1):100-106. doi: 10.1002/ajh.24946. Epub 2017 Nov 10.
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42	Recent insights regarding the molecular basis of myeloproliferative neoplasms.Korean J Intern Med. 2020 Jan;35(1):1-11. doi: 10.3904/kjim.2019.317. Epub 2019 Nov 29.
43	Myeloproliferative neoplasm stem cells.Blood. 2017 Mar 23;129(12):1607-1616. doi: 10.1182/blood-2016-10-696005. Epub 2017 Feb 3.
44	JAK2-V617F-mediated signalling is dependent on lipid rafts and statins inhibit JAK2-V617F-dependent cell growth.Br J Haematol. 2013 Jan;160(2):177-87. doi: 10.1111/bjh.12103. Epub 2012 Nov 15.
45	De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006.
46	HDAC11 deficiency disrupts oncogene-induced hematopoiesis in myeloproliferative neoplasms.Blood. 2020 Jan 16;135(3):191-207. doi: 10.1182/blood.2019895326.
47	Hmga2 collaborates with JAK2V617F in the development of myeloproliferative neoplasms.Blood Adv. 2017 Jun 14;1(15):1001-1015. doi: 10.1182/bloodadvances.2017004457. eCollection 2017 Jun 27.
48	Leukemic Transformation of Myeloproliferative Neoplasms: Therapeutic and Genomic Considerations.Curr Hematol Malig Rep. 2018 Dec;13(6):588-595. doi: 10.1007/s11899-018-0491-5.
49	Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med. 1996 Oct 31;335(18):1363-7. doi: 10.1056/NEJM199610313351805.
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56	SOCS1 function in BCR-ABL mediated myeloproliferative disease is dependent on the cytokine environment.PLoS One. 2017 Jul 28;12(7):e0180401. doi: 10.1371/journal.pone.0180401. eCollection 2017.
57	Tyrosine-phosphorylated SOCS3 negatively regulates cellular transformation mediated by the myeloproliferative neoplasm-associated JAK2 V617F mutant.Cytokine. 2019 Nov;123:154753. doi: 10.1016/j.cyto.2019.154753. Epub 2019 Jun 27.
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61	Critical roles of Myc-ODC axis in the cellular transformation induced by myeloproliferative neoplasm-associated JAK2 V617F mutant.PLoS One. 2013;8(1):e52844. doi: 10.1371/journal.pone.0052844. Epub 2013 Jan 3.
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67	Unique Case of Myeloproliferative Neoplasm with Two Rare Clonal Abnormalities: Rare JAK2 Exon 12 Mutation and Rare e14a3 (b3a3) BCR/ABL Fusion Transcript.Acta Haematol. 2019;141(1):23-27. doi: 10.1159/000494427. Epub 2018 Nov 21.
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69	Proto-oncogene c-mpl is involved in spontaneous megakaryocytopoiesis in myeloproliferative disorders.Br J Haematol. 1996 Jan;92(1):60-6. doi: 10.1046/j.1365-2141.1996.00297.x.
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72	Identification of a HMGA2-EFCAB6 gene rearrangement following next-generation sequencing in a patient with a t(12;22)(q14.3;q13.2) and JAK2V617F-positive myeloproliferative neoplasm.Cancer Genet. 2012 Jun;205(6):295-303. doi: 10.1016/j.cancergen.2012.03.006.
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74	The driver of malignancy in KG-1a leukemic cells, FGFR1OP2-FGFR1, encodes an HSP90 addicted oncoprotein.Cell Signal. 2011 Nov;23(11):1758-66. doi: 10.1016/j.cellsig.2011.06.010. Epub 2011 Jun 30.
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