Details of Disease

General Information of Disease (ID: DISDN5P7)

• Disease Name: Chronic myelomonocytic leukaemia
• Synonyms: leukemia, juvenile myelomonocytic; leukemia, chronic myelomonocytic; chronic myelomonocytic leukaemia; chronic myelomonocytic leukemia; juvenile chronic myeloid leukemia; juvenile chronic myeloid leukaemia; juvenile myelomonocytic leukemia; JCML; JMML; leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation; juvenile chronic myelogenous leukemia; juvenile chronic myelomonocytic leukemia; juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation; juvenile chronic myelomonocytic leukaemia; juvenile chronic myelogenous leukaemia; leukemia, juvenile myelomonocytic, somatic
• Disease Class: 2A40: Chronic myelomonocytic leukaemia
• Definition: A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)
• Disease Hierarchy:
  DISIL8UR: Chronic myelomonocytic leukemia
  DIS8I9FS: Hereditary disorder of connective tissue
  DISDN5P7: Chronic myelomonocytic leukaemia
• ICD Code:
  ICD-11: ICD-11: 2A40
  ICD-10: ICD-10: C93.1
  Expand ICD-10: C15,C16,C17,C18,C19,C20,C21,C22,C23,C24,C25,C26,C81,C82,C83,C84,C85,C86,C82,C83,C84,C85,C91,C92,D10,D11,D12,D13,D14,D15,D16,D17,D18,D19,D20,D21,D22,D23,D24,D25,D26,D27,D28,D29,D30,D31,D32,D33,D34,D35,D36,D3A
  Expand ICD-9: 140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,202,202.8,204.1,205.0,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,228,229
• Disease Identifiers:
  MONDO ID: MONDO_0011908
  MESH ID: D054429
  UMLS CUI: C0349639
  OMIM ID: 607785
  MedGen ID: 138109
  HPO ID: HP:0012209
  Orphanet ID: 86834
  SNOMED CT ID: 128832006

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
Midostaurin	DMI6E0R	Approved	Small molecular drug	[1]
PF-04449913	DMSB068	Approved	Small molecular drug	[2]

This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
H3B-8800	DML2VSZ	Phase 2	NA	[3]
IO-202	DMU03WD	Phase 1	Antibody	[4]
LP-108	DMYIXQZ	Phase 1	NA	[5]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 22 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
JAK3	TTT7PJU	Limited	Genetic Variation	[6]
NRAS	TTW2R9X	Limited	Genetic Variation	[7]
PDGFRB	TTI7421	Limited	Biomarker	[8]
CSF2	TTNYZG2	Disputed	Biomarker	[9]
EZH2	TT9MZCQ	Disputed	Biomarker	[10]
FLT3	TTGJCWZ	moderate	Genetic Variation	[11]
ABL1	TT6B75U	Strong	Biomarker	[12]
CBL	TT7QT13	Strong	Autosomal dominant	[13]
CBL	TT7QT13	Strong	Genetic Variation	[14]
CSF2RA	TT6MP2Z	Strong	Biomarker	[15]
DNMT3A	TTJUALD	Strong	Genetic Variation	[16]
HOXA11	TTEX4ZA	Strong	Genetic Variation	[17]
IL3RA	TTENHJ0	Strong	Altered Expression	[18]
REL	TT1ZCTH	Strong	Altered Expression	[19]
RUNX1	TTWIN3H	Strong	Biomarker	[20]
SF3B1	TTL2WUI	Strong	Biomarker	[21]
SH2B3	TT36N7Z	Strong	Biomarker	[10]
THPO	TTCG5PE	Strong	Biomarker	[22]
TNK2	TTIET93	Strong	Biomarker	[23]
CD6	TTMF6KC	Definitive	Biomarker	[24]
KMT2A	TT1GNDM	Definitive	Biomarker	[25]
KRAS	TTM8FR7	Definitive	Genetic Variation	[26]

This Disease Is Related to 43 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARHGAP26	OTNGQU7A	No Known	Unknown	[27]
ASXL1	OTX931AW	Limited	Genetic Variation	[28]
HBG1	OTVL4NSU	Limited	Altered Expression	[29]
HBG2	OT4J48JJ	Limited	Altered Expression	[29]
HIP1	OT7AKCFQ	Limited	Biomarker	[30]
MOGS	OT99MBGB	Limited	Genetic Variation	[31]
NUP98	OTNT12G2	Limited	Biomarker	[32]
TRIM33	OT0KS4J7	Limited	Biomarker	[33]
RAC2	OTAOHFNH	Disputed	Biomarker	[34]
RARS1	OTHPZ6JN	Disputed	Genetic Variation	[35]
BCR	OTCN76C1	moderate	Biomarker	[12]
ETV6	OTCZMG61	moderate	Genetic Variation	[36]
FIP1L1	OTF91GTL	moderate	Altered Expression	[37]
SOS1	OTTCWXC3	moderate	Genetic Variation	[38]
CBFA2T2	OTNOIB23	Strong	Genetic Variation	[39]
CBL	OTTKELCU	Strong	Autosomal dominant	[13]
ELL	OTCBN5LF	Strong	Genetic Variation	[40]
ETNK1	OTDKB4DQ	Strong	Genetic Variation	[41]
EVPL	OTZIAFEK	Strong	Altered Expression	[42]
FANCB	OTMZTXB5	Strong	Biomarker	[43]
FUT1	OTODG57A	Strong	Genetic Variation	[44]
GATA2	OTBP2QQ2	Strong	Altered Expression	[45]
IL10RA	OTOX3D1D	Strong	Genetic Variation	[46]
IL2RG	OTRZ3OMY	Strong	Biomarker	[47]
KAT7	OTUN98IC	Strong	Biomarker	[32]
KLF1	OT1FK08U	Strong	Posttranslational Modification	[29]
MECOM	OTP983W8	Strong	Altered Expression	[48]
NACA	OTLP1KR3	Strong	Altered Expression	[49]
NELL2	OTS4MJZ7	Strong	Biomarker	[50]
OSBP2	OTDGLB4J	Strong	Genetic Variation	[51]
PPP1R12C	OT9Q86JO	Strong	Genetic Variation	[39]
PPP1R13B	OTC88VQO	Strong	Genetic Variation	[39]
RABEP1	OTQROTGT	Strong	Biomarker	[52]
RAP1GAP	OTC31ONQ	Strong	Genetic Variation	[53]
RASA4	OTW0178L	Strong	Biomarker	[54]
RRAS	OTBBF28C	Strong	Biomarker	[10]
RRAS2	OT83NCEB	Strong	Biomarker	[10]
SETBP1	OTKGCOSR	Strong	Genetic Variation	[55]
SMC1A	OT9ZMRK9	Strong	Genetic Variation	[36]
SPECC1	OTPEML48	Strong	Biomarker	[56]
TET2	OTKKT03T	Strong	Biomarker	[57]
MYH10	OTXN2WXS	Definitive	Biomarker	[58]
SRSF2	OTVDHO6U	Definitive	Genetic Variation	[59]

References

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