MCID: ACT115
MIFTS: 54

Acute Myeloid Leukemia, Adult malady

Genetic diseases, Rare diseases, Immune diseases, Cancer diseases, Blood diseases categories

Summaries for Acute Myeloid Leukemia, Adult

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MalaCards based summary: Acute Myeloid Leukemia, Adult, also known as leukemia acute myelogenous, is related to sarcoma and refractory anemia. An important gene associated with Acute Myeloid Leukemia, Adult is KRAS (Kirsten rat sarcoma viral oncogene homolog), and among its related pathways are SHC1 events in ERBB2 signaling and IL6-mediated signaling events. The drugs cyclophosphamide and etoposide and the compounds beta-tyrosine and regorafenib have been mentioned in the context of this disorder. Affiliated tissues include myeloid, and related mouse phenotypes are embryogenesis and normal.

Description from OMIM:46 601626

Aliases & Classifications for Acute Myeloid Leukemia, Adult

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Sources:
61UMLS, 42NIH Rare Diseases, 44Novoseek, 23GTR, 46OMIM
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Acute Myeloid Leukemia, Adult, Aliases & Descriptions:

Name: Acute Myeloid Leukemia, Adult 42
Leukemia Acute Myelogenous 42 23
Aml Adult 42 44
Acute Non-Lymphocytic Leukaemia 61
Acute Non-Lymphocytic Leukemia 42
Adult Acute Myeloid Leukaemia 61
Acute Granulocytic Leukaemia 61
 
Adult Acute Myeloid Leukemia 42
Leukemia, Myelocytic, Acute 61
Myelogenous Leukemia, Acute 46
Acute Granulocytic Leukemia 42
Leukemia, Acute Myelogenous 46
Acute Myelogenous Leukemia 42


Classifications:



Related Diseases for Acute Myeloid Leukemia, Adult

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Diseases in the Acute Myeloid Leukemia family:

Chronic Myeloid Leukemia Subacute Myeloid Leukemia
Myeloid Leukemia acute myeloid leukemia, adult
Npm1-Related Acute Myeloid Leukemia Inherited Acute Myeloid Leukemia
'acute Myeloid Leukemia with T(9;11)(p22;q23)' 'acute Myeloid Leukemia with T(6;9)(p23;q34)'

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

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma30.8ETV6, KRAS, KIT, JAK2
2refractory anemia30.7FLT3, JAK2, KIT
3systemic mastocytosis30.7KIT, JAK2
4juvenile myelomonocytic leukemia30.7KRAS, FLT3
5myeloid sarcoma30.6FLT3, KIT
6acute promyelocytic leukemia30.6NPM1, IRF1, FLT3
7neurofibromatosis30.6KIT, KRAS
8retinoblastoma30.5CEBPA, NPM1, KRAS, IRF1
9myelodysplastic syndromes30.5JAK2, FLT3, IRF1, ETV6, KIT, KRAS
10fibrosarcoma30.4IRF1, JAK2, ETV6
11polycythemia vera30.3KIT, JAK2, FLT3
12thrombocytosis30.3JAK2, FLT3
13down syndrome30.2JAK2, ETV6, FLT3
14breast cancer30.2ETV6, IRF1, JAK2, KRAS
15acute lymphoblastic leukemia30.2JAK2, FLT3, ETV6, KIT, KRAS
16acute myeloid leukemia30.1FLT3, CEBPA, KIT, NPM1
17leukemia29.9FLT3, JAK2, IRF1, ETV6, CEBPA, KIT
18myeloid leukemia29.7IRF1, ETV6, KIT, JAK2, FLT3, NPM1
19acute leukemia29.3IRF1, CEBPA, KIT, KRAS, NPM1, JAK2
20hematopoietic stem cell transplantation10.6
21leukostasis10.5
22neutropenia10.5
23acute lymphocytic leukemia10.4
24graft versus host disease10.4
25diabetes insipidus10.4
26hidradenitis10.4
27lymphoblastic leukemia10.4
28acute febrile neutrophilic dermatosis10.4
29familial platelet disorder with associated myeloid malignancy10.4
30mastocytosis10.4
31zygomycosis10.4
32familial platelet disorder with propensity to acute myelogenous leukemia10.4
33endotheliitis10.4
34myelofibrosis10.4JAK2
35stomach cancer10.4KRAS, IRF1
36gastric cancer, somatic10.4IRF1, KRAS
37aplastic anemia10.3
38paroxysmal nocturnal hemoglobinuria10.3
39severe combined immunodeficiency10.3
40severe congenital neutropenia10.3
41thrombocytopenia10.3
42hemoglobinuria10.3
43pulmonary alveolar proteinosis10.3
44aspergillosis10.3
45glossitis10.3
46acute graft versus host disease10.3
47bone marrow necrosis10.3
48granulocytopenia10.3
49refractory anemia with excess blasts10.3
50malignant mixed mullerian tumor10.3KIT, KRAS

Graphical network of the top 20 diseases related to Acute Myeloid Leukemia, Adult:



Diseases related to acute myeloid leukemia, adult

Symptoms for Acute Myeloid Leukemia, Adult

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Clinical features from OMIM:

601626

Drugs & Therapeutics for Acute Myeloid Leukemia, Adult

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Drug clinical trials:

Search ClinicalTrials for Acute Myeloid Leukemia, Adult

Search NIH Clinical Center for Acute Myeloid Leukemia, Adult

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Acute Myeloid Leukemia, Adult

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Genetic tests related to Acute Myeloid Leukemia, Adult:

id Genetic test Affiliating Genes
1 Acute Myelogenous Leukemia23

Anatomical Context for Acute Myeloid Leukemia, Adult

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

32
Myeloid

Animal Models for Acute Myeloid Leukemia, Adult or affiliated genes

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MGI Mouse Phenotypes related to Acute Myeloid Leukemia, Adult:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6NPM1, KRAS, KIT, ETV6, JAK2
2MP:00028738.3JAK2, IRF1, ETV6, CEBPA, KIT, KRAS
3MP:00053798.2JAK2, ETV6, CEBPA, KIT, KRAS
4MP:00053858.1IRF1, ETV6, CEBPA, KIT, KRAS, NPM1
5MP:00107718.0JAK2, IRF1, ETV6, CEBPA, KIT, KRAS
6MP:00053787.5FLT3, JAK2, ETV6, CEBPA, KIT, KRAS
7MP:00053767.4FLT3, JAK2, IRF1, ETV6, CEBPA, KIT
8MP:00020067.4NPM1, FLT3, JAK2, IRF1, ETV6, CEBPA
9MP:00053977.4FLT3, JAK2, IRF1, ETV6, CEBPA, KIT
10MP:00053877.4FLT3, JAK2, IRF1, ETV6, CEBPA, KIT
11MP:00053847.3FLT3, JAK2, IRF1, ETV6, CEBPA, KIT
12MP:00107687.3FLT3, JAK2, IRF1, ETV6, CEBPA, KIT

Publications for Acute Myeloid Leukemia, Adult

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Variations for Acute Myeloid Leukemia, Adult

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

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 Acute Myeloid Leukemia, Adult:

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 Acute Myeloid Leukemia, Adult

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

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

Pathways for genes affiliated with Acute Myeloid Leukemia, Adult

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

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9KRAS, JAK2
29.8JAK2, IRF1
39.8IRF1, JAK2
49.8IRF1, JAK2
59.7KRAS, ETV6
69.7CEBPA, JAK2
7
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway59
9.5KRAS, IRF1, JAK2
8
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling59
Leptin signaling pathway37
9.5KRAS, IRF1, JAK2
9
Show member pathways
9.5KRAS, IRF1, JAK2
109.5KRAS, KIT, JAK2
11
Show member pathways
9.5JAK2, KIT, KRAS
12
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
9.5JAK2, KIT, KRAS
139.4JAK2, CEBPA, KRAS
14
Show member pathways
9.2KRAS, KIT, FLT3
158.9CEBPA, ETV6, FLT3
168.7FLT3, JAK2, KIT, NPM1
178.7FLT3, CEBPA, KIT, KRAS
18
Show member pathways
Signal transduction PTEN pathway59
8.7KRAS, KIT, CEBPA, FLT3
19
Show member pathways
8.6KIT, CEBPA, JAK2, FLT3
20
Show member pathways
8.6FLT3, JAK2, CEBPA, KIT

Compounds for genes affiliated with Acute Myeloid Leukemia, Adult

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

(show all 40)
idCompoundScoreTop Affiliating Genes
1beta-tyrosine4410.1KIT, JAK2
2regorafenib50 1211.1KRAS, KIT
3lestaurtinib44 6010.9JAK2, FLT3
4erlotinib44 50 1211.9KRAS, KIT
5tandutinib449.9KIT, FLT3
6deferoxamine44 1210.8CEBPA, IRF1
7pkc 412449.8KIT, FLT3
8ag-1296449.8KIT, FLT3
9su5416449.8FLT3, KIT
10valine449.8KRAS, KIT, JAK2
11butyrate449.7KRAS, IRF1, JAK2
12ponatinib50 1210.7FLT3, KIT
13sunitinib44 50 1211.7KIT, FLT3
1417-(allylamino)-17-demethoxygeldanamycin449.6FLT3, KIT
15l-glutamine29 25 1211.6GMPS, TGM6
16paclitaxel44 50 1211.5KIT, KRAS, NPM1
17gp 130449.5KIT, JAK2, FLT3
18actinomycin d449.4JAK2, IRF1, KIT, NPM1
19agarose449.4NPM1, KIT, FLT3
20Ammonia259.4TGM6, GMPS
21methylcellulose449.3FLT3, KIT
22phosphotyrosine449.3FLT3, JAK2, KIT
23cycloheximide449.3NPM1, KIT, IRF1, JAK2
24glycogen44 2510.3KIT, CEBPA, JAK2
25leucine449.2JAK2, CEBPA, KIT, NPM1
26phosphoinositide449.2FLT3, JAK2, KIT, KRAS
27thymidine44 2510.1FLT3, JAK2, IRF1, KIT
28threonine448.9NPM1, KIT, JAK2, FLT3
29oligonucleotide448.9FLT3, JAK2, IRF1, KIT, KRAS
30phosphatidylinositol448.9KRAS, KIT, IRF1, JAK2, FLT3
31Adenosine triphosphate25 129.9KIT, ACSL6, GMPS, JAK2, FLT3
32rapamycin448.9FLT3, JAK2, KIT, KRAS, NPM1
33aspartate448.8FLT3, JAK2, GMPS, KIT, NPM1
34atp44 299.8FLT3, JAK2, GMPS, KIT, NPM1
35doxorubicin44 50 1210.8NPM1, KIT, FLT3
36imatinib44 50 1210.7FLT3, JAK2, ETV6, KIT, KRAS
37estrogen448.7JAK2, IRF1, CEBPA, KIT, KRAS, NPM1
38vegf448.7FLT3, JAK2, ETV6, KIT, KRAS
39tyrosine448.0FLT3, JAK2, IRF1, ETV6, KIT, KRAS
40retinoic acid44 258.6NPM1, FLT3, JAK2, IRF1, ETV6, CEBPA

GO Terms for genes affiliated with Acute Myeloid Leukemia, Adult

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.9KIT, JAK2
2activation of MAPKK activityGO:0001869.9KRAS, JAK2
3positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.8JAK2, KIT
4erythrocyte differentiationGO:0302189.7KIT, JAK2
5visual learningGO:0085429.7KRAS, KIT
6myeloid progenitor cell differentiationGO:0023189.7FLT3, KIT
7positive regulation of phosphatidylinositol 3-kinase activityGO:0435529.6KIT, FLT3
8positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.4KIT, JAK2, FLT3
9peptidyl-tyrosine phosphorylationGO:0181089.3KIT, JAK2, FLT3
10positive regulation of MAP kinase activityGO:0434069.3KRAS, FLT3
11protein autophosphorylationGO:0467779.2FLT3, JAK2, KIT
12positive regulation of cell proliferationGO:0082849.0FLT3, JAK2, KIT, KRAS
13negative regulation of cell proliferationGO:0082858.6FLT3, JAK2, IRF1, CEBPA, NPM1
14cytokine-mediated signaling pathwayGO:0192218.3KRAS, KIT, CEBPA, IRF1, JAK2, FLT3

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol 3-kinase bindingGO:0435489.5JAK2, FLT3
2transmembrane receptor protein tyrosine kinase activityGO:0047149.1KIT, FLT3
3ATP bindingGO:0055248.4FLT3, JAK2, GMPS, ACSL6, KIT
4protein homodimerization activityGO:0428038.4NPM1, KIT, ACSL6, CEBPA, FLT3
5protein bindingGO:0055157.2JAK2, IRF1, ETV6, CEBPA, KIT, KRAS

Products for genes affiliated with Acute Myeloid Leukemia, Adult

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Sources for Acute Myeloid Leukemia, Adult

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet