MCID: LKM017
MIFTS: 35

Leukemia, Acute Myeloid, Reduced Survival in malady

Genetic diseases (common) category

Summaries for Leukemia, Acute Myeloid, Reduced Survival in

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MalaCards based summary: Leukemia, Acute Myeloid, Reduced Survival in is related to juvenile myelomonocytic leukemia and myelofibrosis. An important gene associated with Leukemia, Acute Myeloid, Reduced Survival in is FLT3 (fms-related tyrosine kinase 3), and among its related pathways are C-MYB transcription factor network and Dorso-ventral axis formation. The compounds tandutinib and pkc 412 have been mentioned in the context of this disorder. Affiliated tissues include myeloid, and related mouse phenotypes are vision/eye and liver/biliary system.

Description from OMIM:46 601626

Aliases & Classifications for Leukemia, Acute Myeloid, Reduced Survival in

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Leukemia, Acute Myeloid, Reduced Survival in, Aliases & Descriptions:

Name: Leukemia, Acute Myeloid, Reduced Survival in 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Leukemia, Acute Myeloid, Reduced Survival in

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Diseases related to Leukemia, Acute Myeloid, Reduced Survival in via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1juvenile myelomonocytic leukemia10.3FLT3, KRAS
2myelofibrosis10.3JAK2
3myeloid sarcoma10.3FLT3, KIT
4mast cell neoplasm10.3FLT3, KIT
5malignant mixed mullerian tumor10.2KIT, KRAS
6mesoblastic nephroma10.2KIT, ETV6
7bone marrow cancer10.2FLT3, JAK2
8factor vii deficiency10.2KRAS, KIT
9neurofibromatosis10.2KIT, KRAS
10gastrointestinal stromal tumor10.2FLT3, KIT
11systemic mastocytosis10.2KIT, JAK2
12acute myeloid leukemia, adult10.1JAK2, SETBP1
13hemorrhagic thrombocythemia10.1KIT, JAK2
14thrombocytosis10.1JAK2, FLT3
15acute lymphoblastic leukemia, childhood10.1KRAS, FLT3, ETV6
16leukemia, acute lymphoblastic 310.1KIT, ETV6, FLT3
17refractory anemia10.1KIT, JAK2, FLT3
18polycythemia vera10.0FLT3, KIT, JAK2
19b-cell lymphomas10.0FLT3, NPM1, JAK2
20seminoma10.0KRAS, KIT
21acute myeloid leukemia10.0NPM1, KIT, CEBPA, FLT3
22eosinophilia10.0ETV6, JAK2
23precursor t-cell acute lymphoblastic leukemia10.0FLT3, JAK2, ETV6
24down syndrome10.0FLT3, JAK2, ETV6
25retinoblastoma9.9CEBPA, KRAS, NPM1
26non-hodgkin lymphoma9.8ETV6, FLT3, NPM1, JAK2
27pdgfrb-associated chronic eosinophilic leukemia9.8JAK2, FLT3, ETV6, KIT
28melanoma9.8FLT3, KRAS, KIT, JAK2
29sarcoma9.8KIT, ETV6, JAK2, KRAS
30prostate cancer9.7NPM1, JAK2, KRAS, FLT3
31myeloid leukemia9.7NPM1, KIT, ETV6, JAK2, FLT3
32hematologic cancer9.7NPM1, FLT3, ETV6, KIT, JAK2
33burkitt's lymphoma9.7FLT3, KRAS, ETV6, NPM1, JAK2
34chronic myeloid leukemia9.7FLT3, KIT, JAK2, ETV6, KRAS
35acute lymphoblastic leukemia9.7FLT3, KRAS, KIT, ETV6, JAK2
36myelodysplastic syndromes9.5NPM1, JAK2, FLT3, ETV6, KIT, KRAS
37breast cancer9.5KIT, KRAS, ETV6, JAK2, NPM1, FLT3
38acute leukemia9.3JAK2, NPM1, KRAS, ETV6, KIT, CEBPA
39leukemia9.3KIT, NPM1, ETV6, KRAS, JAK2, CEBPA

Graphical network of the top 20 diseases related to Leukemia, Acute Myeloid, Reduced Survival in:



Diseases related to leukemia, acute myeloid, reduced survival in

Symptoms for Leukemia, Acute Myeloid, Reduced Survival in

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Clinical features from OMIM:

601626

Drugs & Therapeutics for Leukemia, Acute Myeloid, Reduced Survival in

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Drug clinical trials:

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Anatomical Context for Leukemia, Acute Myeloid, Reduced Survival in

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MalaCards organs/tissues related to Leukemia, Acute Myeloid, Reduced Survival in:

32
Myeloid

Animal Models for Leukemia, Acute Myeloid, Reduced Survival in or affiliated genes

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MGI Mouse Phenotypes related to Leukemia, Acute Myeloid, Reduced Survival in:

36 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.9NPM1, KRAS, KIT, CEBPA
2MP:00053708.8CEBPA, KIT, KRAS, NPM1
3MP:00053818.4ETV6, CEBPA, KIT, KRAS
4MP:00053858.4ETV6, CEBPA, KIT, KRAS, NPM1
5MP:00053808.4JAK2, ETV6, KIT, KRAS, NPM1
6MP:00053798.3JAK2, ETV6, CEBPA, KIT, KRAS
7MP:00028738.2JAK2, ETV6, CEBPA, KIT, KRAS
8MP:00107718.0JAK2, ETV6, CEBPA, KIT, KRAS, NPM1
9MP:00053767.8FLT3, JAK2, ETV6, CEBPA, KIT, KRAS
10MP:00020067.7NPM1, FLT3, JAK2, ETV6, CEBPA, KIT
11MP:00053977.7FLT3, JAK2, ETV6, CEBPA, KIT, KRAS
12MP:00053877.7FLT3, JAK2, ETV6, CEBPA, KIT, KRAS
13MP:00053847.7FLT3, JAK2, ETV6, CEBPA, KIT, KRAS
14MP:00053787.6FLT3, JAK2, ETV6, CEBPA, KIT, KRAS
15MP:00107687.6FLT3, JAK2, ETV6, CEBPA, KIT, KRAS

Publications for Leukemia, Acute Myeloid, Reduced Survival in

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Variations for Leukemia, Acute Myeloid, Reduced Survival in

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UniProtKB/Swiss-Prot genetic disease variations for Leukemia, Acute Myeloid, Reduced Survival in:

63
id Symbol AA change Variation ID SNP ID
1JAK2p.Lys607AsnVAR_032696
2JAK2p.Val617PheVAR_032697
3SETBP1p.Gly870SerVAR_063809
4SETBP1p.Ser854AlaVAR_069848
5SETBP1p.Gly870ArgVAR_069854
6SETBP1p.Ile871SerVAR_069856

Clinvar genetic disease variations for Leukemia, Acute Myeloid, Reduced Survival in:

7 (show all 30)
id Gene Name Type Significance SNP ID Assembly Location
1KRASKRAS, 3-BP INS, GLY11INSinsertionPathogenic
2KITNM_000222.2(KIT): c.2446G> T (p.Asp816Tyr)single nucleotide variantPathogenicrs121913506GRCh37Chr 4, 55599320: 55599320
3NPM1NM_002520.6(NPM1): c.860_863dupTCTG (p.Trp288Cysfs)duplicationPathogenicGRCh38Chr 5, 171410540: 171410543
4NPM1NM_002520.6(NPM1): c.863_864insCATG (p.Trp288Cysfs)insertionPathogenicGRCh38Chr 5, 171410543: 171410544
5NPM1NM_002520.6(NPM1): c.863_864insCGTG (p.Trp288Cysfs)insertionPathogenicGRCh38Chr 5, 171410543: 171410544
6NPM1NM_002520.6(NPM1): c.863_864insCCTG (p.Trp288Cysfs)insertionPathogenicGRCh38Chr 5, 171410543: 171410544
7JAK2NM_004972.3(JAK2): c.1849G> T (p.Val617Phe)single nucleotide variantPathogenic, risk factorrs77375493GRCh37Chr 9, 5073770: 5073770
8JAK2NM_004972.3(JAK2): c.1821G> C (p.Lys607Asn)single nucleotide variantPathogenicrs121912472GRCh37Chr 9, 5073742: 5073742
9FLT3NM_004119.2(FLT3): c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer)insertionPathogenicrs398122514GRCh37Chr 13, 28592624: 28592625
10FLT3NM_004119.2(FLT3): c.2504A> T (p.Asp835Val)single nucleotide variantPathogenicrs121909646GRCh37Chr 13, 28592641: 28592641
11FLT3NM_004119.2(FLT3): c.2503G> C (p.Asp835His)single nucleotide variantPathogenicrs121913488GRCh37Chr 13, 28592642: 28592642
12FLT3NM_004119.2(FLT3): c.2503G> A (p.Asp835Asn)single nucleotide variantPathogenicrs121913488GRCh37Chr 13, 28592642: 28592642
13FLT3FLT3, ASP835GLUundetermined variantPathogenic
14FLT3NM_004119.2(FLT3): c.2503G> T (p.Asp835Tyr)single nucleotide variantPathogenicrs121913488GRCh37Chr 13, 28592642: 28592642
15FLT3NM_004119.2(FLT3): c.2503_2505delGAT (p.Asp835del)deletionPathogenicrs121913486GRCh37Chr 13, 28592640: 28592642
16CEBPANM_004364.4(CEBPA): c.115_121delCCCGCGC (p.Pro39Serfs)deletionPathogenicGRCh38Chr 19, 33302294: 33302300
17CEBPANM_004364.4(CEBPA): c.148G> T (p.Glu50Ter)single nucleotide variantPathogenicrs121912791GRCh37Chr 19, 33793173: 33793173
18CEBPANM_004364.4(CEBPA): c.251A> T (p.His84Leu)single nucleotide variantPathogenicrs28931590GRCh37Chr 19, 33793070: 33793070
19CEBPANM_004364.4(CEBPA)duplicationPathogenicGRCh38Chr 19, 33301424: 33301480
20CEBPANM_004364.4(CEBPA)duplicationPathogenicGRCh38Chr 19, 33301464: 33301490
21CEBPANM_004364.4(CEBPA): c.211_214dupGCCG (p.Ala72Glyfs)duplicationPathogenicGRCh38Chr 19, 33302201: 33302204
22CEBPANM_004364.4(CEBPA): c.68delC (p.Pro23Argfs)deletionPathogenicrs137852728GRCh38Chr 19, 33302347: 33302347
23CEBPANM_004364.4(CEBPA): c.141delC (p.Ala48Profs)deletionPathogenicrs137852730GRCh37Chr 19, 33793180: 33793180
24CEBPANM_004364.4(CEBPA): c.198_201dupCTAC (p.Ile68Leufs*41)duplicationPathogenicrs137852731GRCh37Chr 19, 33793120: 33793123
25CEBPANM_004364.4(CEBPA): c.217_218insC (p.Phe73Serfs)insertionPathogenicrs137852733GRCh37Chr 19, 33793103: 33793104
26CEBPANM_004364.4(CEBPA): c.318_319dupTG (p.Asp107Valfs*54)duplicationPathogenicrs137852732GRCh37Chr 19, 33793001: 33793002
27CEBPANM_004364.4(CEBPA): c.68dupC (p.His24Alafs)duplicationPathogenicrs137852729GRCh37Chr 19, 33793252: 33793253
28TGM6NM_198994.2(TGM6): c.1550T> G (p.Leu517Trp)single nucleotide variantPathogenicrs387907097GRCh37Chr 20, 2398091: 2398091
29ETV6NM_001987.4(ETV6): c.226G> T (p.Glu76Ter)single nucleotide variantPathogenicrs121434637GRCh37Chr 12, 11992136: 11992136
30ETV6NM_001987.4(ETV6): c.1307_1308insGGG (p.His436delinsGlnGly)insertionPathogenicGRCh37Chr 12, 12043928: 12043929

Expression for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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Expression patterns in normal tissues for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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Pathways for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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Pathways related to Leukemia, Acute Myeloid, Reduced Survival in according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CEBPA, KIT
29.6KRAS, ETV6
3
Show member pathways
9.5KRAS, JAK2
49.5KRAS, JAK2
59.4JAK2, CEBPA
6
Show member pathways
9.4FLT3, KIT, KRAS
79.2ETV6, FLT3, CEBPA
89.1JAK2, KIT, KRAS
9
Show member pathways
9.1JAK2, KIT, KRAS
10
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.1JAK2, KIT, KRAS
119.0JAK2, CEBPA, KRAS
128.9KIT, CEBPA, KRAS, FLT3
13
Show member pathways
Signal transduction PTEN pathway59
8.9CEBPA, KRAS, KIT, FLT3
148.8KIT, JAK2, NPM1, FLT3
15
Show member pathways
8.7JAK2, KIT, CEBPA, FLT3
16
Show member pathways
8.7KIT, CEBPA, JAK2, FLT3

Compounds for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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Compounds related to Leukemia, Acute Myeloid, Reduced Survival in according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1tandutinib4410.2FLT3, KIT
2pkc 4124410.1FLT3, KIT
3ag-12964410.1KIT, FLT3
4su54164410.1FLT3, KIT
5ponatinib50 1211.1FLT3, KIT
6sunitinib44 50 1212.1KIT, FLT3
717-(allylamino)-17-demethoxygeldanamycin4410.0FLT3, KIT
8regorafenib50 1211.0KRAS, KIT
9lestaurtinib44 6010.9FLT3, JAK2
10erlotinib44 50 1211.9KIT, KRAS
11methylcellulose449.9FLT3, KIT
12beta-tyrosine449.9KIT, JAK2
13sorafenib44 50 1211.8FLT3, KIT
14daunorubicin44 50 1211.8NPM1, FLT3
15agarose449.8FLT3, KIT, NPM1
16doxorubicin44 50 1211.6NPM1, KIT, FLT3
17paclitaxel44 50 1211.6KIT, KRAS, NPM1
18gp 130449.5FLT3, JAK2, KIT
19paraffin449.5KRAS, KIT, NPM1
20valine449.4KIT, KRAS, JAK2
21phosphotyrosine449.4FLT3, JAK2, KIT
22fatty acid449.3NPM1, CEBPA, KRAS
23lactate449.3NPM1, FLT3, KIT
24actinomycin d449.3JAK2, NPM1, KIT
25glycogen44 2510.2CEBPA, KIT, JAK2
26aspartate449.2JAK2, FLT3, KIT, NPM1
27phosphoinositide449.1JAK2, KIT, KRAS, FLT3
28oligonucleotide449.1FLT3, JAK2, KIT, KRAS
29threonine449.1KIT, NPM1, JAK2, FLT3
30phosphatidylinositol449.1KRAS, KIT, JAK2, FLT3
31atp44 2910.0JAK2, NPM1, KIT, FLT3
32leucine449.0NPM1, JAK2, CEBPA, KIT
33thymidine44 259.8KIT, FLT3, JAK2
34rapamycin448.8NPM1, KRAS, KIT, JAK2, FLT3
35estrogen448.7KIT, NPM1, KRAS, CEBPA, JAK2
36imatinib44 50 1210.7FLT3, JAK2, ETV6, KIT, KRAS
37vegf448.6KIT, ETV6, JAK2, FLT3, KRAS
38tyrosine448.3NPM1, KRAS, KIT, ETV6, JAK2, FLT3
39retinoic acid44 258.8NPM1, KIT, CEBPA, ETV6, JAK2, FLT3

GO Terms for genes affiliated with Leukemia, Acute Myeloid, Reduced Survival in

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Biological processes related to Leukemia, Acute Myeloid, Reduced Survival in according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1myeloid progenitor cell differentiationGO:00231810.0FLT3, KIT
2positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.9FLT3, KIT
3positive regulation of MAP kinase activityGO:0434069.8KRAS, FLT3
4visual learningGO:0085429.8KIT, KRAS
5positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.7KIT, JAK2
6response to glucocorticoidGO:0513849.6KRAS, CEBPA
7hemopoiesisGO:0300979.6KIT, FLT3
8positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.6KIT, JAK2
9erythrocyte differentiationGO:0302189.6KIT, JAK2
10activation of MAPKK activityGO:0001869.5JAK2, KRAS
11positive regulation of MAPK cascadeGO:0434109.4KIT, FLT3
12positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.4JAK2, KIT, FLT3
13peptidyl-tyrosine phosphorylationGO:0181089.4FLT3, JAK2, KIT
14protein autophosphorylationGO:0467779.4FLT3, JAK2, KIT
15negative regulation of cell proliferationGO:0082859.0FLT3, CEBPA, NPM1, JAK2
16positive regulation of cell proliferationGO:0082849.0KIT, FLT3, JAK2, KRAS
17cytokine-mediated signaling pathwayGO:0192218.6CEBPA, KIT, KRAS, JAK2, FLT3

Molecular functions related to Leukemia, Acute Myeloid, Reduced Survival in according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:0047149.6KIT, FLT3
2phosphatidylinositol 3-kinase bindingGO:0435489.5FLT3, JAK2
3histone bindingGO:0423939.5JAK2, NPM1
4protein homodimerization activityGO:0428039.0FLT3, CEBPA, KIT, NPM1
5protein bindingGO:0055157.1JAK2, NPM1, KRAS, KIT, CEBPA, ETV6

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