MCID: LKM017
MIFTS: 36

Leukemia, Acute Myeloid, Reduced Survival in malady

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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


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

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:

64
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:

6 (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 variantPathogenicrs77375493GRCh37Chr 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
19.6KIT, CEBPA
29.6KRAS, ETV6
3
Show member pathways
9.5KRAS, JAK2
49.5KRAS, JAK2
59.4JAK2, CEBPA
6
Show member pathways
9.4KRAS, KIT, FLT3
79.2FLT3, ETV6, CEBPA
8
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1JAK2, KIT, KRAS
9
Show member pathways
9.1JAK2, KIT, KRAS
109.1KRAS, KIT, JAK2
119.0KRAS, CEBPA, JAK2
128.9FLT3, CEBPA, KIT, KRAS
13
Show member pathways
Signal transduction PTEN pathway60
8.9KRAS, KIT, CEBPA, FLT3
148.8FLT3, JAK2, KIT, NPM1
15
Show member pathways
8.7KIT, CEBPA, JAK2, FLT3
16
Show member pathways
8.7FLT3, JAK2, CEBPA, KIT

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
1tandutinib4410.2KIT, FLT3
2pkc 4124410.1KIT, FLT3
3ag-12964410.1KIT, FLT3
4su54164410.1FLT3, KIT
5ponatinib50 1111.1KIT, FLT3
6sunitinib44 50 1112.1FLT3, KIT
717-(allylamino)-17-demethoxygeldanamycin4410.0KIT, FLT3
8regorafenib50 1111.0KRAS, KIT
9lestaurtinib44 6110.9JAK2, FLT3
10erlotinib44 50 1111.9KRAS, KIT
11methylcellulose449.9KIT, FLT3
12beta-tyrosine449.9KIT, JAK2
13sorafenib44 50 1111.8KIT, FLT3
14daunorubicin44 50 1111.8NPM1, FLT3
15agarose449.8FLT3, KIT, NPM1
16doxorubicin44 50 1111.6NPM1, KIT, FLT3
17paclitaxel44 50 1111.6NPM1, KRAS, KIT
18gp 130449.5FLT3, JAK2, KIT
19paraffin449.5KIT, KRAS, NPM1
20valine449.4KRAS, KIT, JAK2
21phosphotyrosine449.4FLT3, JAK2, KIT
22fatty acid449.3NPM1, KRAS, CEBPA
23actinomycin d449.3NPM1, KIT, JAK2
24lactate449.3FLT3, KIT, NPM1
25glycogen44 2410.2JAK2, CEBPA, KIT
26aspartate449.2FLT3, JAK2, KIT, NPM1
27phosphoinositide449.1KRAS, KIT, JAK2, FLT3
28oligonucleotide449.1FLT3, JAK2, KIT, KRAS
29threonine449.1NPM1, KIT, JAK2, FLT3
30phosphatidylinositol449.1KRAS, KIT, JAK2, FLT3
31atp44 2810.0FLT3, JAK2, KIT, NPM1
32leucine449.0JAK2, CEBPA, KIT, NPM1
33thymidine44 249.8KIT, JAK2, FLT3
34rapamycin448.8FLT3, JAK2, KIT, KRAS, NPM1
35estrogen448.7JAK2, CEBPA, KIT, KRAS, NPM1
36imatinib44 50 1110.7KRAS, KIT, ETV6, JAK2, FLT3
37vegf448.6FLT3, JAK2, ETV6, KIT, KRAS
38tyrosine448.3FLT3, JAK2, ETV6, KIT, KRAS, NPM1
39retinoic acid44 248.8FLT3, JAK2, ETV6, CEBPA, KIT, KRAS

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:00231810.0KIT, FLT3
2positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.9KIT, FLT3
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:0300979.6FLT3, KIT
8positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.6JAK2, KIT
9erythrocyte differentiationGO:0302189.6KIT, JAK2
10activation of MAPKK activityGO:0001869.5KRAS, JAK2
11positive regulation of MAPK cascadeGO:0434109.4KIT, FLT3
12positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.4FLT3, JAK2, KIT
13peptidyl-tyrosine phosphorylationGO:0181089.4KIT, JAK2, FLT3
14protein autophosphorylationGO:0467779.4FLT3, JAK2, KIT
15negative regulation of cell proliferationGO:0082859.0FLT3, JAK2, CEBPA, NPM1
16positive regulation of cell proliferationGO:0082849.0FLT3, JAK2, KIT, KRAS
17cytokine-mediated signaling pathwayGO:0192218.6KRAS, KIT, CEBPA, 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:0423939.5NPM1, JAK2
4protein homodimerization activityGO:0428039.0NPM1, KIT, CEBPA, FLT3
5protein bindingGO:0055157.1FLT3, JAK2, ETV6, CEBPA, KIT, KRAS

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27ICD9CM
28IUPHAR
29KEGG
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58SNOMED-CT via Orphanet
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63UMLS via Orphanet