General Information of Disease (ID: DIS3KLUX)

Disease Name Blast phase chronic myelogenous leukemia, BCR-ABL1 positive
Synonyms
blast crises; blast phase; crisis, blast; crises, blast; phase, blast; phases, blast; blast phases; blast phase chronic myeloid leukaemia; blastic phase chronic myelogenous leukaemia; blast phase chronic myelogenous leukaemia; blast phase chronic granulocytic leukaemia; blastic phase chronic granulocytic leukemia; blastic phase chronic myelogenous leukemia; blast crisis; blast phase chronic granulocytic leukemia; blastic phase chronic myeloid leukaemia; blastic phase chronic granulocytic leukaemia; blastic phase chronic myeloid leukemia; blast phase chronic myelogenous leukemia; blastic phase CML; blast phase chronic myeloid leukemia; blast phase chronic myelocytic leukemia; blastic phase chronic myelocytic leukaemia; blast phase chronic myelocytic leukaemia; blastic phase chronic myelocytic leukemia; blast phase CML
Definition
An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).
Disease Hierarchy
DIS0301E: Chronic myelogenous leukaemia
DIS3KLUX: Blast phase chronic myelogenous leukemia, BCR-ABL1 positive
Disease Identifiers
MONDO ID
MONDO_0006115
MESH ID
D001752
UMLS CUI
C0005699
MedGen ID
2281
SNOMED CT ID
278180008

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 3 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Bosutinib DMTI8YE Approved Small molecular drug [1]
Dasatinib DMJV2EK Approved Small molecular drug [2]
Imatinib DM7RJXL Approved Small molecular drug [3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 19 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CD33 TTJVYO3 Limited Altered Expression [4]
IRF8 TTHUBNK Limited Biomarker [5]
MPL TTIHYA4 Limited Biomarker [6]
CCR7 TT2GIDQ moderate Genetic Variation [7]
CD34 TTZAVYN moderate Biomarker [8]
MTTP TTUS1RD moderate Genetic Variation [9]
AICDA TTKRTP6 Strong Biomarker [10]
ANPEP TTPHMWB Strong Altered Expression [11]
BCAT1 TTES57P Strong Altered Expression [12]
FURIN TTH9WF6 Strong Biomarker [13]
HOXA5 TTXSVQP Strong Biomarker [14]
LTB4R2 TTVJX54 Strong Biomarker [15]
MKNK1 TTEZAUX Strong Biomarker [16]
MSI2 TTTXQF6 Strong Altered Expression [17]
PRAME TTPH7T0 Strong Genetic Variation [18]
TKTL1 TTNQ1J3 Strong Altered Expression [19]
CSF3R TTC70AJ Definitive Genetic Variation [20]
ENPEP TT9PBIL Definitive Biomarker [21]
SLC25A1 TTTD730 Definitive Biomarker [22]
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⏷ Show the Full List of 19 DTT(s)
This Disease Is Related to 64 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
A2ML1 OTWNUXIS Limited Altered Expression [23]
ADAR OTQNOHR8 Limited Altered Expression [24]
BACH2 OT17GS18 Limited Altered Expression [25]
BRAP OTB7BAFQ Limited Altered Expression [26]
DDX43 OTK1RYSK Limited Biomarker [27]
FIP1L1 OTF91GTL Limited Biomarker [28]
GATA1 OTX1R7O1 Limited Genetic Variation [29]
GATA2 OTBP2QQ2 Limited Genetic Variation [30]
IMPA1 OTBUVW1Z Limited Altered Expression [26]
LBR OT1HG3HG Limited Genetic Variation [31]
POLM OT0SRIP4 Limited Altered Expression [32]
RALGAPB OTY8CGA3 Limited Altered Expression [23]
RBP2 OTR8QG5V Limited Altered Expression [33]
MECOM OTP983W8 moderate Genetic Variation [7]
ARHGEF1 OTXU4HBW Strong Biomarker [34]
ASXL1 OTX931AW Strong Biomarker [35]
ATP5F1E OTMPLAIS Strong Posttranslational Modification [36]
BCL11B OT8KKCVJ Strong Biomarker [37]
BCS1L OT5PY5CY Strong Biomarker [38]
CCNA1 OTX4HD45 Strong Biomarker [39]
CDCA7 OT12HDZY Strong Altered Expression [40]
CDCP1 OTD7RRWK Strong Altered Expression [41]
CFC1 OT5DHGI8 Strong Genetic Variation [42]
COBLL1 OTQFN1TC Strong Biomarker [43]
CTR9 OTP151PZ Strong Altered Expression [11]
DNTT OTFSEF12 Strong Altered Expression [32]
EBF2 OTFWZE51 Strong Posttranslational Modification [44]
ELP1 OTYEWBF7 Strong Altered Expression [11]
EN2 OT7EZCM2 Strong Biomarker [45]
ESPL1 OTMGEVOK Strong Biomarker [46]
FANCB OTMZTXB5 Strong Genetic Variation [47]
GFI1B OTRDW8YO Strong Altered Expression [48]
HOXA4 OTNVTQDT Strong Biomarker [14]
HOXA9 OTKNK5H0 Strong Genetic Variation [49]
IMMT OTBDSLE7 Strong Altered Expression [50]
LHX4 OTVX3J6S Strong Genetic Variation [51]
MBD2 OTUQPP0R Strong Biomarker [52]
MBNL3 OT2T2YOK Strong Biomarker [53]
NUDCD1 OT8DS3CX Strong Biomarker [54]
NUP98 OTNT12G2 Strong Genetic Variation [49]
PACRG OT1NYNNW Strong Genetic Variation [55]
PCBP2 OTXCN9CG Strong Biomarker [56]
PCNT OTW4Z65J Strong Biomarker [57]
PIK3R4 OTRL8QP8 Strong Altered Expression [11]
PPP2R2B OTSFVC82 Strong Altered Expression [58]
PRDM2 OT8L7CGX Strong Altered Expression [59]
RAB3GAP2 OTQTE0GI Strong Altered Expression [11]
RREB1 OT62460U Strong Genetic Variation [60]
SFTPA1 OT87XL1U Strong Biomarker [61]
SIPA1 OTXY5RXC Strong Biomarker [61]
TBC1D9 OTSSCTB5 Strong Altered Expression [62]
BSPH1 OTLLM5JY Definitive Biomarker [63]
EIF3A OTFABY9G Definitive Altered Expression [64]
GYPB OTESHUIX Definitive Biomarker [65]
GYPE OTBHAG6A Definitive Biomarker [65]
MPP1 OTA2ENZQ Definitive Biomarker [66]
PEG10 OTWD2278 Definitive Biomarker [67]
POLG2 OTDBMZJB Definitive Biomarker [66]
PSMD12 OTWICA51 Definitive Biomarker [66]
RPL22 OTVCN8K0 Definitive Biomarker [21]
RTL1 OTOT33IM Definitive Biomarker [67]
RTL3 OT0YJ750 Definitive Biomarker [67]
RTL4 OTQE62ZB Definitive Biomarker [67]
SETMAR OTE2MIMZ Definitive Biomarker [67]
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⏷ Show the Full List of 64 DOT(s)

References

1 Bosutinib FDA Label
2 Dasatinib FDA Label
3 Imatinib FDA Label
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28 Hes1 upregulation contributes to the development of FIP1L1-PDGRA-positive leukemia in blast crisis.Exp Hematol. 2014 May;42(5):369-379.e3. doi: 10.1016/j.exphem.2014.01.009. Epub 2014 Jan 31.
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35 RUNX1 mutations promote leukemogenesis of myeloid malignancies in ASXL1-mutated leukemia.J Hematol Oncol. 2019 Oct 22;12(1):104. doi: 10.1186/s13045-019-0789-3.
36 Down-regulation of mitochondrial ATPase by hypermethylation mechanism in chronic myeloid leukemia is associated with multidrug resistance.Ann Oncol. 2010 Jul;21(7):1506-1514. doi: 10.1093/annonc/mdp569. Epub 2009 Dec 27.
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