MCID: LKM016
MIFTS: 35

Leukemia, Acute Myeloid, Somatic malady

Genetic diseases (common) category

Summaries for Leukemia, Acute Myeloid, Somatic

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MalaCards based summary: Leukemia, Acute Myeloid, Somatic is related to myelofibrosis and mesoblastic nephroma. An important gene associated with Leukemia, Acute Myeloid, Somatic is ETV6 (ets variant 6), and among its related pathways are Dorso-ventral axis formation and C-MYB transcription factor network. The compounds regorafenib and beta-tyrosine 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, Somatic

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Leukemia, Acute Myeloid, Somatic, Aliases & Descriptions:

Name: Leukemia, Acute Myeloid, Somatic 46


Classifications:

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


Related Diseases for Leukemia, Acute Myeloid, Somatic

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

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1myelofibrosis10.3JAK2
2mesoblastic nephroma10.3ETV6, KIT
3malignant mixed mullerian tumor10.2KRAS, KIT
4juvenile myelomonocytic leukemia10.2FLT3, KRAS
5factor vii deficiency10.2KRAS, KIT
6systemic mastocytosis10.2KIT, JAK2
7neurofibromatosis10.2KRAS, KIT
8acute myeloid leukemia, adult10.2SETBP1, JAK2
9hemorrhagic thrombocythemia10.2KIT, JAK2
10myeloid sarcoma10.2FLT3, KIT
11mast cell neoplasm10.1KIT, FLT3
12bone marrow cancer10.1JAK2, FLT3
13eosinophilia10.1ETV6, JAK2
14acute lymphoblastic leukemia, childhood10.1FLT3, ETV6, KRAS
15leukemia, acute lymphoblastic 310.0FLT3, ETV6, KIT
16gastrointestinal stromal tumor10.0FLT3, KIT
17thrombocytosis10.0FLT3, JAK2
18seminoma10.0KRAS, KIT
19precursor t-cell acute lymphoblastic leukemia10.0ETV6, JAK2, FLT3
20refractory anemia10.0KIT, JAK2, FLT3
21polycythemia vera10.0KIT, JAK2, FLT3
22down syndrome10.0FLT3, JAK2, ETV6
23b-cell lymphomas9.9NPM1, JAK2, FLT3
24sarcoma9.9JAK2, ETV6, KIT, KRAS
25retinoblastoma9.9CEBPA, KRAS, NPM1
26acute myeloid leukemia9.9NPM1, KIT, CEBPA, FLT3
27non-hodgkin lymphoma9.8NPM1, ETV6, JAK2, FLT3
28pdgfrb-associated chronic eosinophilic leukemia9.8KIT, ETV6, JAK2, FLT3
29melanoma9.7KRAS, KIT, JAK2, FLT3
30myeloid leukemia9.7FLT3, JAK2, ETV6, KIT, NPM1
31hematologic cancer9.7FLT3, JAK2, ETV6, KIT, NPM1
32burkitt's lymphoma9.7NPM1, KRAS, ETV6, JAK2, FLT3
33chronic myeloid leukemia9.7FLT3, JAK2, ETV6, KIT, KRAS
34acute lymphoblastic leukemia9.7FLT3, JAK2, ETV6, KIT, KRAS
35prostate cancer9.7NPM1, KRAS, JAK2, FLT3
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, Somatic:



Diseases related to leukemia, acute myeloid, somatic

Symptoms for Leukemia, Acute Myeloid, Somatic

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Clinical features from OMIM:

601626

Drugs & Therapeutics for Leukemia, Acute Myeloid, Somatic

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Drug clinical trials:

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Genetic Tests for Leukemia, Acute Myeloid, Somatic

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Anatomical Context for Leukemia, Acute Myeloid, Somatic

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MalaCards organs/tissues related to Leukemia, Acute Myeloid, Somatic:

32
Myeloid

Animal Models for Leukemia, Acute Myeloid, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Leukemia, Acute Myeloid, Somatic:

36 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.9NPM1, KRAS, KIT, CEBPA
2MP:00053708.8CEBPA, KIT, KRAS, NPM1
3MP:00053808.7JAK2, ETV6, KIT, KRAS, NPM1
4MP:00053818.6ETV6, CEBPA, KIT, KRAS
5MP:00053858.6ETV6, CEBPA, KIT, KRAS, NPM1
6MP:00053798.6JAK2, ETV6, CEBPA, KIT, KRAS
7MP:00028738.5JAK2, ETV6, CEBPA, KIT, KRAS
8MP:00107718.3JAK2, 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, Somatic

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Variations for Leukemia, Acute Myeloid, Somatic

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UniProtKB/Swiss-Prot genetic disease variations for Leukemia, Acute Myeloid, Somatic:

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, Somatic:

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, Somatic

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

Search GEO for disease gene expression data for Leukemia, Acute Myeloid, Somatic.

Pathways for genes affiliated with Leukemia, Acute Myeloid, Somatic

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Pathways related to Leukemia, Acute Myeloid, Somatic according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KRAS, ETV6
29.6KIT, CEBPA
3
Show member pathways
9.6KRAS, JAK2
49.6KRAS, JAK2
59.5JAK2, CEBPA
6
Show member pathways
9.2JAK2, KIT, KRAS
7
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
9.2JAK2, KIT, KRAS
89.2KRAS, KIT, JAK2
99.1KRAS, CEBPA, JAK2
109.1FLT3, ETV6, CEBPA
11
Show member pathways
9.1KRAS, KIT, FLT3
128.6FLT3, CEBPA, KIT, KRAS
13
Show member pathways
Signal transduction PTEN pathway59
8.6KRAS, KIT, CEBPA, FLT3
148.6FLT3, JAK2, KIT, NPM1
15
Show member pathways
8.5KIT, CEBPA, JAK2, FLT3
16
Show member pathways
8.5FLT3, JAK2, CEBPA, KIT

Compounds for genes affiliated with Leukemia, Acute Myeloid, Somatic

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Compounds related to Leukemia, Acute Myeloid, Somatic according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1regorafenib50 1211.0KRAS, KIT
2beta-tyrosine4410.0KIT, JAK2
3erlotinib44 50 1211.9KRAS, KIT
4tandutinib449.9KIT, FLT3
5pkc 412449.8KIT, FLT3
6ag-1296449.8KIT, FLT3
7su5416449.8FLT3, KIT
8ponatinib50 1210.8KIT, FLT3
9sunitinib44 50 1211.8FLT3, KIT
10lestaurtinib44 6010.7JAK2, FLT3
1117-(allylamino)-17-demethoxygeldanamycin449.7KIT, FLT3
12paclitaxel44 50 1211.6NPM1, KRAS, KIT
13methylcellulose449.6KIT, FLT3
14valine449.5KRAS, KIT, JAK2
15sorafenib44 50 1211.5KIT, FLT3
16daunorubicin44 50 1211.5NPM1, FLT3
17paraffin449.5KIT, KRAS, NPM1
18agarose449.5FLT3, KIT, NPM1
19actinomycin d449.4NPM1, KIT, JAK2
20doxorubicin44 50 1211.3NPM1, KIT, FLT3
21glycogen44 2510.3JAK2, CEBPA, KIT
22gp 130449.3FLT3, JAK2, KIT
23fatty acid449.3NPM1, KRAS, CEBPA
24phosphotyrosine449.2FLT3, JAK2, KIT
25leucine449.1JAK2, CEBPA, KIT, NPM1
26lactate449.0FLT3, KIT, NPM1
27aspartate449.0FLT3, JAK2, KIT, NPM1
28phosphoinositide448.9KRAS, KIT, JAK2, FLT3
29oligonucleotide448.9FLT3, JAK2, KIT, KRAS
30threonine448.9NPM1, KIT, JAK2, FLT3
31phosphatidylinositol448.9KRAS, KIT, JAK2, FLT3
32atp44 299.8FLT3, JAK2, KIT, NPM1
33estrogen448.8JAK2, CEBPA, KIT, KRAS, NPM1
34imatinib44 50 1210.7KRAS, KIT, ETV6, JAK2, FLT3
35vegf448.6FLT3, JAK2, ETV6, KIT, KRAS
36thymidine44 259.6KIT, JAK2, FLT3
37rapamycin448.6FLT3, JAK2, KIT, KRAS, NPM1
38tyrosine448.3FLT3, JAK2, ETV6, KIT, KRAS, NPM1
39retinoic acid44 258.8FLT3, JAK2, ETV6, CEBPA, KIT, KRAS

GO Terms for genes affiliated with Leukemia, Acute Myeloid, Somatic

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Biological processes related to Leukemia, Acute Myeloid, Somatic according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1visual learningGO:0085429.8KIT, KRAS
2positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.8KIT, JAK2
3myeloid progenitor cell differentiationGO:0023189.7KIT, FLT3
4positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.7JAK2, KIT
5erythrocyte differentiationGO:0302189.7KIT, JAK2
6response to glucocorticoidGO:0513849.6KRAS, CEBPA
7positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.6KIT, FLT3
8activation of MAPKK activityGO:0001869.6KRAS, JAK2
9positive regulation of MAP kinase activityGO:0434069.5KRAS, FLT3
10hemopoiesisGO:0300979.3FLT3, KIT
11positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.2FLT3, JAK2, KIT
12peptidyl-tyrosine phosphorylationGO:0181089.2KIT, JAK2, FLT3
13protein autophosphorylationGO:0467779.2FLT3, JAK2, KIT
14positive regulation of MAPK cascadeGO:0434109.1KIT, FLT3
15negative regulation of cell proliferationGO:0082858.8FLT3, JAK2, CEBPA, NPM1
16positive regulation of cell proliferationGO:0082848.8FLT3, JAK2, KIT, KRAS
17cytokine-mediated signaling pathwayGO:0192218.4KRAS, KIT, CEBPA, JAK2, FLT3

Molecular functions related to Leukemia, Acute Myeloid, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone bindingGO:0423939.6NPM1, JAK2
2transmembrane receptor protein tyrosine kinase activityGO:0047149.3KIT, FLT3
3phosphatidylinositol 3-kinase bindingGO:0435489.3FLT3, JAK2
4protein homodimerization activityGO:0428038.7NPM1, KIT, CEBPA, FLT3
5protein bindingGO:0055157.1FLT3, JAK2, ETV6, CEBPA, KIT, KRAS

Products for genes affiliated with Leukemia, Acute Myeloid, Somatic

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Sources for Leukemia, Acute Myeloid, Somatic

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4CDC
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15FMA
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25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet