General Information of Disease (ID: DISZFC1O)

Disease Name Acute erythroid leukemia
Synonyms
acute erythroleukemia; acute erythroleukemia M6b subtype; acute myeloid leukemia FAB-M6; acute myeloid leukaemia FAB-M6; Di Guglielmo's syndrome; AML-M6; acute erythroleukemia M6a subtype; Erythroleukemia; Di Guglielmo syndrome; M6 acute myeloid leukemia; AEL; acute erythroblastic leukemia; acute erythroblastic leukaemia; M6 acute myeloid leukaemia; FAB M6; acute myeloid leukaemia M6; acute erythroid leukemia; AML M6; acute myeloid leukemia M6; erythroblastic leukemia; erythroblastic leukaemia; leukemia, erythroid, malignant
Definition An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)
Disease Hierarchy
DIS3I1DX: Erythroid neoplasm
DIS0BM1I: Acute myeloid leukaemia
DISZFC1O: Acute erythroid leukemia
Disease Identifiers
MONDO ID
MONDO_0017858
MESH ID
D004915
UMLS CUI
C0023440
MedGen ID
7316
Orphanet ID
318
SNOMED CT ID
14317002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 32 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CAD TT2YT1K Limited Biomarker [1]
CARM1 TTIZQFJ Limited Posttranslational Modification [2]
DHODH TTLVP78 Limited Biomarker [1]
UMPS TTAFJUD Limited Biomarker [1]
HEXIM1 TTFOKAH moderate Altered Expression [3]
AQP1 TTSF1KH Strong Altered Expression [4]
CNP TT71P0H Strong Altered Expression [5]
EML4 TT92GY4 Strong Biomarker [6]
EPOR TTAUX24 Strong Biomarker [7]
FECH TTQ6VF4 Strong Altered Expression [8]
GP1BA TTVB0Q9 Strong Altered Expression [9]
HBA2 TTQO71U Strong Altered Expression [10]
HBB TTM6HK1 Strong Genetic Variation [11]
HCAR3 TT8WFXV Strong Biomarker [12]
HMOX2 TTWZRL4 Strong Altered Expression [13]
IL5RA TTXH9AD Strong Altered Expression [14]
INHBA TTVB30D Strong Altered Expression [15]
JAK2 TTRMX3V Strong Biomarker [16]
MAG TT9XFON Strong Biomarker [5]
NRG1 TTEH395 Strong Biomarker [17]
P2RY6 TTNVSKA Strong Biomarker [18]
RARG TT1Q3IE Strong Altered Expression [19]
RPS6KB2 TTMVQXO Strong Biomarker [20]
S1PR4 TTZ8C5Q Strong Altered Expression [21]
STK38 TT27XFN Strong Altered Expression [22]
TBXA2R TT2O84V Strong Biomarker [23]
TBXAS1 TTKNWZ4 Strong Altered Expression [24]
WWP1 TTBWMKT Strong Biomarker [25]
CR1 TTEA8OW Definitive Posttranslational Modification [26]
FDXR TT3W4IX Definitive Biomarker [27]
PF4 TTSG7Q5 Definitive Biomarker [28]
SRGN TTCHB06 Definitive Altered Expression [29]
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⏷ Show the Full List of 32 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A18 DT3VZJO Strong Biomarker [30]
SLC4A1 DTB0Q3P Strong Altered Expression [31]
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This Disease Is Related to 5 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CMPK1 DEMPH4I Strong Biomarker [32]
CYP2S1 DE6NMGO Strong Altered Expression [24]
SCLY DEH4TD6 Strong Biomarker [33]
UBASH3B DE10BJ5 Strong Biomarker [20]
ALAS2 DE437BY Definitive Altered Expression [34]
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This Disease Is Related to 69 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACSL5 OT3L9XO3 Limited Genetic Variation [35]
ACSL6 OT0TT8P8 Limited Genetic Variation [35]
NUDC OT073JKX Limited Altered Expression [36]
GYPA OTABU4YV moderate Biomarker [37]
HBE1 OTJPKMX4 moderate Altered Expression [38]
HBG1 OTVL4NSU moderate Altered Expression [2]
HBG2 OT4J48JJ moderate Altered Expression [2]
ANXA4 OTUCRYXL Strong Altered Expression [39]
CDX4 OTD1SQKM Strong Biomarker [40]
CENPU OTQ4TZRS Strong Biomarker [41]
CLDN10 OT2CVAKY Strong Biomarker [42]
CNBP OTTGM9NK Strong Altered Expression [43]
CYLC1 OTM0LL34 Strong Biomarker [44]
DERL1 OTJUS74N Strong Genetic Variation [45]
DKC1 OTX7DJR6 Strong Altered Expression [37]
E2F4 OTB3JFH4 Strong Biomarker [46]
E2F6 OT2PN28R Strong Biomarker [46]
ELF4 OT167PR5 Strong Biomarker [47]
FLI1 OT0EV3LX Strong Altered Expression [48]
FLII OT7G9JG6 Strong Altered Expression [48]
FUT8 OTJJCVG1 Strong Altered Expression [43]
GAB1 OTQKE6V4 Strong Genetic Variation [49]
GATA1 OTX1R7O1 Strong Altered Expression [50]
GFI1B OTRDW8YO Strong Altered Expression [51]
GYPB OTESHUIX Strong Biomarker [37]
GYPE OTBHAG6A Strong Biomarker [37]
HBA1 OTW2BQF4 Strong Altered Expression [10]
HBD OTRQG4WA Strong Altered Expression [52]
HBQ1 OTU12ZTW Strong Biomarker [53]
HBZ OTMHGFSS Strong Altered Expression [54]
HOXC5 OTPQTLKZ Strong Altered Expression [55]
HOXD3 OTBUZ35T Strong Altered Expression [56]
HSF2 OTXNJIJ9 Strong Biomarker [57]
ID3 OTUULW5Z Strong Altered Expression [42]
ILF3 OTKMZ5K5 Strong Altered Expression [58]
INPPL1 OTCDAVBQ Strong Altered Expression [59]
KRT7 OTLT3JFN Strong Biomarker [33]
LYL1 OTCNOV1M Strong Biomarker [33]
MAFK OTZJUE4P Strong Altered Expression [60]
ME2 OTO4LL76 Strong Altered Expression [61]
MLF1 OTC5BKHU Strong Biomarker [62]
MTUS1 OTBPALMU Strong Altered Expression [43]
NFE2 OTLM94BI Strong Biomarker [63]
NONO OTN36Q6U Strong Biomarker [64]
NPTN OTAQKSAU Strong Biomarker [65]
PBX2 OTEBYCAW Strong Altered Expression [66]
PDCD5 OT6T2DDL Strong Biomarker [67]
PEG10 OTWD2278 Strong Genetic Variation [68]
PIAS3 OT3TWH9R Strong Biomarker [69]
PRDX3 OTLB2WEU Strong Altered Expression [70]
PSMC5 OTJOORMR Strong Biomarker [71]
PTPMT1 OT9WVC6N Strong Altered Expression [72]
RAB2A OT6SK83U Strong Biomarker [73]
RAB8A OTPB54Y3 Strong Genetic Variation [74]
RASA3 OT9C54MN Strong Biomarker [75]
RTL1 OTOT33IM Strong Genetic Variation [68]
SETMAR OTE2MIMZ Strong Genetic Variation [68]
SHMT2 OT5NCAZN Strong Biomarker [37]
SPI1 OTVCA1D0 Strong Altered Expression [76]
SPIB OTO4YKYI Strong Altered Expression [77]
SPTAN1 OT6VY3A3 Strong Altered Expression [78]
SRI OT4R3EAC Strong Altered Expression [70]
TAL1 OTX4K6QZ Strong Biomarker [33]
TFCP2 OTA246TE Strong Altered Expression [79]
TFR2 OTMYCCEO Strong Altered Expression [80]
TRIB2 OTHSX3MX Strong Biomarker [81]
ERVW-1 OTWV8DXJ Definitive Biomarker [82]
HEMGN OTZPYUOY Definitive Altered Expression [83]
MINDY4 OTBZ2SZB Definitive Biomarker [84]
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⏷ Show the Full List of 69 DOT(s)

References

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25 The WW domain containing E3 ubiquitin protein ligase 1 upregulates ErbB2 and EGFR through RING finger protein 11.Oncogene. 2008 Nov 20;27(54):6845-55. doi: 10.1038/onc.2008.288. Epub 2008 Aug 25.
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29 Promoter regulatory elements and DNase I-hypersensitive sites involved in serglycin proteoglycan gene expression in human erythroleukemia, CHRF 288-11, and HL-60 cells.J Biol Chem. 2001 Jul 6;276(27):24726-35. doi: 10.1074/jbc.M102958200. Epub 2001 May 1.
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32 Growth factor-independent 1B gene (GFI1B) is overexpressed in erythropoietic and megakaryocytic malignancies and increases their proliferation rate.Br J Haematol. 2007 Jan;136(2):212-9. doi: 10.1111/j.1365-2141.2006.06407.x. Epub 2006 Dec 8.
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34 Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.Haematologica. 2014 Feb;99(2):252-61. doi: 10.3324/haematol.2013.085449. Epub 2013 Aug 9.
35 Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13).Genes Chromosomes Cancer. 1999 Nov;26(3):192-202. doi: 10.1002/(sici)1098-2264(199911)26:3<192::aid-gcc2>3.0.co;2-e.
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37 DKC1 is a transcriptional target of GATA1 and drives upregulation of telomerase activity in normal human erythroblasts.Haematologica. 2020 Jun;105(6):1517-1526. doi: 10.3324/haematol.2018.215699. Epub 2019 Aug 14.
38 Non-coding transcripts far upstream of the epsilon-globin gene are distinctly expressed in human primary tissues and erythroleukemia cell lines.Biochem Biophys Res Commun. 2006 Jun 2;344(2):623-30. doi: 10.1016/j.bbrc.2006.03.189. Epub 2006 Apr 6.
39 Modulation of cell surface lectin receptors on K562 human erythroleukemia cells induced by transfection with annexin IV cDNA.FEBS Lett. 1997 Mar 17;405(1):107-10. doi: 10.1016/s0014-5793(97)00161-0.
40 The ParaHox gene Cdx4 induces acute erythroid leukemia in mice.Blood Adv. 2019 Nov 26;3(22):3729-3739. doi: 10.1182/bloodadvances.2019000761.
41 cDNA cloning and characterization of a novel gene encoding the MLF1-interacting protein MLF1IP.Oncogene. 2004 Apr 29;23(20):3700-7. doi: 10.1038/sj.onc.1207448.
42 Lymphoid-specific expression of the Id3 gene in hematopoietic cells. Selective antagonism of E2A basic helix-loop-helix protein associated with Id3-induced differentiation of erythroleukemia cells.J Biol Chem. 1998 Apr 3;273(14):8278-86. doi: 10.1074/jbc.273.14.8278.
43 -1,6-Fucosyltransferase (FUT8) inhibits hemoglobin production during differentiation of murine and K562 human erythroleukemia cells.J Biol Chem. 2013 Jun 7;288(23):16839-16847. doi: 10.1074/jbc.M113.459594. Epub 2013 Apr 22.
44 Cloning of a D-type cyclin from murine erythroleukemia cells.Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2444-7. doi: 10.1073/pnas.89.6.2444.
45 Derivative (1;7)(q10;p10) in a patient with de novo acute erythroblastic leukemia (AML-M6).Cancer Genet Cytogenet. 1999 Nov;115(1):62-4. doi: 10.1016/s0165-4608(99)00076-x.
46 Functional interrelationship between TFII-I and E2F transcription factors at specific cell cycle gene loci.J Cell Biochem. 2018 Jan;119(1):712-722. doi: 10.1002/jcb.26235. Epub 2017 Jul 31.
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48 A novel synthesized 3', 5'-diprenylated chalcone mediates the proliferation of human leukemia cells by regulating apoptosis and autophagy pathways.Biomed Pharmacother. 2018 Oct;106:794-804. doi: 10.1016/j.biopha.2018.06.153. Epub 2018 Jul 11.
49 The multi-site docking protein Gab1 is constitutively phosphorylated independent from its recruitment to the plasma membrane in Jak2-V617F-positive cells and mediates proliferation of human erythroleukaemia cells.Cell Signal. 2017 Jul;35:37-47. doi: 10.1016/j.cellsig.2017.03.021. Epub 2017 Mar 30.
50 GATA1 Is a Sensitive and Specific Nuclear Marker for Erythroid and Megakaryocytic Lineages.Am J Clin Pathol. 2017 Apr 1;147(4):420-426. doi: 10.1093/ajcp/aqx018.
51 Growth Factor Independence 1B-Mediated Transcriptional Repression and Lineage Allocation Require Lysine-Specific Demethylase 1-Dependent Recruitment of the BHC Complex.Mol Cell Biol. 2019 Jun 13;39(13):e00020-19. doi: 10.1128/MCB.00020-19. Print 2019 Jul 1.
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65 Activation of the erythropoietin receptor by the gp55-P viral envelope protein is determined by a single amino acid in its transmembrane domain.EMBO J. 1999 Jun 15;18(12):3334-47. doi: 10.1093/emboj/18.12.3334.
66 Antiproliferative effect of upregulation of hsa-let-7c-5p in human acute erythroleukemia cells.Cytotechnology. 2018 Dec;70(6):1509-1518. doi: 10.1007/s10616-018-0241-5. Epub 2018 Aug 2.
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68 Isochromosome 21 and other chromosomal abnormalities in a patient with erythroleukaemia.Ann Genet. 1983;26(4):240-2.
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71 Friend virus-induced erythroleukemias: a unique and well-defined mouse model for the development of leukemia.Anticancer Res. 2003 May-Jun;23(3A):2159-66.
72 Ptpmt1 induced by HIF-2 regulates the proliferation and glucose metabolism in erythroleukemia cells.Biochem Biophys Res Commun. 2016 Mar 18;471(4):459-65. doi: 10.1016/j.bbrc.2016.02.053. Epub 2016 Feb 17.
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74 Disulfide-masked iron prochelators: Effects on cell death, proliferation, and hemoglobin production.J Inorg Biochem. 2018 Mar;180:186-193. doi: 10.1016/j.jinorgbio.2017.12.016. Epub 2018 Jan 4.
75 Antisense knock out of the inositol 1,3,4,5-tetrakisphosphate receptor GAP1(IP4BP) in the human erythroleukemia cell line leads to the appearance of intermediate conductance K(Ca) channels that hyperpolarize the membrane and enhance calcium influx.J Gen Physiol. 1999 Jan;113(1):81-96. doi: 10.1085/jgp.113.1.81.
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78 Patterns of spectrin transcripts in erythroid and non-erythroid cells.J Cell Physiol. 1990 Aug;144(2):287-94. doi: 10.1002/jcp.1041440215.
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80 Expression of transferrin receptor 2 in normal and neoplastic hematopoietic cells.Blood. 2001 Nov 1;98(9):2714-9. doi: 10.1182/blood.v98.9.2714.
81 Survival factor withdrawal-induced apoptosis of TF-1 cells involves a TRB2-Mcl-1 axis-dependent pathway.J Biol Chem. 2007 Jul 27;282(30):21962-72. doi: 10.1074/jbc.M701663200. Epub 2007 Jun 1.
82 Oncogene cooperativity in Friend erythroleukemia: erythropoietin receptor activation by the env gene of SFFV leads to transcriptional upregulation of PU.1, independent of SFFV proviral insertion.Oncogene. 2002 Feb 14;21(8):1272-84. doi: 10.1038/sj.onc.1205183.
83 Down-regulation of EDAG expression by retrovirus-mediated small interfering RNA inhibits the growth and IL-8 production of leukemia cells.Oncol Rep. 2007 Sep;18(3):659-64.
84 Induction of human aquaporin-1 gene by retinoic acid in human erythroleukemia HEL cells.Biochem Biophys Res Commun. 2002 May 10;293(3):913-7. doi: 10.1016/S0006-291X(02)00316-9.