Details of Disease

General Information of Disease (ID: DIS6L0CN)

• Disease Name: Primary myelofibrosis
• Synonyms: myeloid metaplasia; myelofibrosis; myelofibrosis with myeloid metaplasia; bone marrow fibrosis; chronic idiopathic myelofibrosis; myelofibrosis, somatic; osteomyelofibrosis; aleukemic myelosis; myelosclerosis; myelosclerosis with myeloid metaplasia; AMM; megakaryocytic myelosclerosis; CIMF; myelofibrosis with myeloid metaplasia, somatic; primary myelofibrosis; idiopathic myelofibrosis; Agnogenic myeloid metaplasia; idiopathic bone marrow fibrosis
• Disease Class: 2A20: Myeloproliferative neoplasm
• Definition: Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.
• Disease Hierarchy:
  DIS5KAPA: Myeloproliferative neoplasm
  DISCMKMX: Acquired aplastic anemia
  DIS6L0CN: Primary myelofibrosis
• ICD Code:
  ICD-11: ICD-11: 2A20.2
  ICD-10: ICD-10: D47.4
  Expand ICD-10: C90,C94,D47,D69,D75,P61
  Expand ICD-9: 203.0,287.3,287.4,287.5,289.0,289.83,776.4
• Disease Identifiers:
  MONDO ID: MONDO_0009692
  MESH ID: D055728
  UMLS CUI: C0001815
  MedGen ID: 7929
  Orphanet ID: 824
  SNOMED CT ID: 128843003

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
Panobinostat	DM58WKG	Approved	Small molecular drug	[1]
Sunitinib	DMCBJSR	Approved	Small molecular drug	[2]

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	[3]
HDAC11	TT8K17W	Limited	Biomarker	[4]
THPO	TTCG5PE	Limited	Genetic Variation	[5]
CSF3R	TTC70AJ	moderate	Genetic Variation	[6]
FKBP4	TTHY0FT	moderate	Altered Expression	[7]
FKBP5	TT0J5KQ	moderate	Altered Expression	[7]
FLT3	TTGJCWZ	moderate	Biomarker	[8]
IRAK1	TTXAJWN	moderate	Altered Expression	[9]
SCT	TTOBVIN	moderate	Biomarker	[10]
ABL1	TT6B75U	Strong	Biomarker	[11]
CD34	TTZAVYN	Strong	Altered Expression	[12]
EZH2	TT9MZCQ	Strong	Genetic Variation	[13]
GADD45B	TTMDW9L	Strong	Altered Expression	[14]
HMGA2	TTSTVM0	Strong	Altered Expression	[15]
MVD	TTE5J6X	Strong	Biomarker	[16]
MYB	TT8V13P	Strong	Biomarker	[17]
PAOX	TTNQ760	Strong	Biomarker	[18]
SF3B1	TTL2WUI	Strong	Genetic Variation	[19]
SLCO2A1	TTKVTQO	Strong	Biomarker	[20]
TNFRSF11B	TT2CJ75	Strong	Biomarker	[21]
TRPC4	TTX0H5W	Strong	Altered Expression	[22]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A20	DTQOUM4	Strong	Genetic Variation	[23]

This Disease Is Related to 49 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BORA	OTV2ZPKP	Limited	Altered Expression	[24]
FGF3	OT9PK2SI	Limited	Biomarker	[25]
GATA1	OTX1R7O1	Limited	Genetic Variation	[26]
INTS2	OT2N5TCK	Limited	Biomarker	[25]
NCOR2	OTY917X0	Limited	Biomarker	[27]
FXYD5	OT81DIOD	moderate	Biomarker	[28]
LEF1	OTWS5I5H	moderate	Altered Expression	[29]
MMRN1	OT7ZNYHT	moderate	Biomarker	[30]
NOG	OTGRHHPG	moderate	Biomarker	[31]
SETBP1	OTKGCOSR	moderate	Genetic Variation	[32]
ABI1	OT5H4M62	Strong	Biomarker	[33]
AGGF1	OTA7U2T8	Strong	Biomarker	[34]
ATN1	OTNZFLKY	Strong	Biomarker	[35]
BCR	OTCN76C1	Strong	Genetic Variation	[36]
BMF	OT90NSLI	Strong	Genetic Variation	[37]
CD164	OTZ7FIU8	Strong	Altered Expression	[38]
CD177	OTS79FNF	Strong	Genetic Variation	[3]
CNTNAP1	OT5Y03EU	Strong	Genetic Variation	[39]
DERL1	OTJUS74N	Strong	Genetic Variation	[40]
EDA	OTAKS5WS	Strong	Biomarker	[41]
ENC1	OTJEUB6U	Strong	Biomarker	[14]
FIP1L1	OTF91GTL	Strong	Altered Expression	[42]
FREM1	OTMHRV87	Strong	Biomarker	[14]
FZD2	OT952ML1	Strong	Altered Expression	[15]
GDF11	OTOSNMND	Strong	Genetic Variation	[43]
HMGXB3	OTTZ1AS6	Strong	Biomarker	[44]
HMGXB4	OTB1QT9U	Strong	Biomarker	[18]
INTS1	OT7TY1M1	Strong	Biomarker	[25]
INTS3	OT7NX4CD	Strong	Genetic Variation	[45]
ITGA9	OTHN1IKA	Strong	Altered Expression	[14]
JARID2	OT14UM8H	Strong	Biomarker	[46]
LDHB	OT9B1CT3	Strong	Biomarker	[47]
LIG3	OT48SKET	Strong	Altered Expression	[48]
MPIG6B	OTVNKQWA	Strong	Genetic Variation	[49]
MYOM2	OTD2UOXW	Strong	Biomarker	[50]
NBEAL2	OTMCAXWR	Strong	Genetic Variation	[51]
NFE2	OTLM94BI	Strong	Biomarker	[52]
NRM	OTK7F9XZ	Strong	Biomarker	[53]
PRB1	OTV0SYMD	Strong	Genetic Variation	[24]
PRG2	OT0BCPQG	Strong	Altered Expression	[54]
PRSS27	OTC4G4UF	Strong	Biomarker	[55]
RARS1	OTHPZ6JN	Strong	Biomarker	[56]
RPS14	OTB90KV5	Strong	Biomarker	[57]
SHOC2	OTUNQ2CT	Strong	Genetic Variation	[58]
SNRPF	OTZE5W6G	Strong	Biomarker	[44]
SOAT1	OTB4Y5RJ	Strong	Biomarker	[59]
SOCS6	OT2O5ZBK	Strong	Biomarker	[60]
STIM2	OTYNXAW0	Strong	Altered Expression	[22]
STUB1	OTSUYI9A	Strong	Genetic Variation	[61]

References

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