MCID: ACT115
MIFTS: 40

Acute Myeloid Leukemia, Adult malady

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

Summaries for Acute Myeloid Leukemia, Adult

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48OMIM, 34MalaCards
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MalaCards: Acute Myeloid Leukemia, Adult, also known as leukemia acute myelogenous, is related to myelodysplastic syndromes and acute leukemia. An important gene associated with Acute Myeloid Leukemia, Adult is KRAS (Kirsten rat sarcoma viral oncogene homolog), and among its related pathways are Hepatitis C and IL-3 Signaling Pathway. The compounds guanylate and imatinib have been mentioned in the context of this disorder. Affiliated tissues include myeloid, and related mouse phenotype tumorigenesis.

Description from OMIM:48 601626

Aliases & Classifications for Acute Myeloid Leukemia, Adult

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44NIH Rare Diseases, 23GTR, 48OMIM, 46Novoseek
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Classifications:



Aliases & Descriptions:

acute myeloid leukemia, adult 44
leukemia acute myelogenous 44 23
aml adult 44 46
acute non-lymphocytic leukemia 44
adult acute myeloid leukemia 44
acute granulocytic leukemia 44
leukemia, acute myelogenous 48
myelogenous leukemia, acute 48
acute myelogenous leukemia 44


Related Diseases for Acute Myeloid Leukemia, Adult

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18GeneCards, 19GeneDecks
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Diseases in the Acute Myeloid Leukemia family:

Subacute Myeloid Leukemia Chronic 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(8;16)(p11;p13)
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 144)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndromes31.2KRAS, IRF1, JAK2
2acute leukemia30.4JAK2, IRF1, KRAS
3juvenile myelomonocytic leukemia30.4KRAS
4fibrosarcoma30.2IRF1, JAK2
5breast cancer30.2JAK2, IRF1, KRAS
6leukemia10.7
7hematopoietic stem cell transplantation10.6
8neutropenia10.5
9sarcoma10.5
10leukostasis10.5
11graft versus host disease10.4
12diabetes insipidus10.4
13severe congenital neutropenia10.4
14acute lymphocytic leukemia10.4
15hidradenitis10.4
16lymphoblastic leukemia10.4
17acute febrile neutrophilic dermatosis10.4
18familial platelet disorder with associated myeloid malignancy10.4
19mastocytosis10.4
20familial platelet disorder with propensity to acute myelogenous leukemia10.4
21endotheliitis10.4
22refractory anemia10.4
23hemoglobinuria10.3
24pulmonary alveolar proteinosis10.3
25aplastic anemia10.3
26aspergillosis10.3
27glossitis10.3
28retinoblastoma10.3
29severe combined immunodeficiency10.3
30thrombocytopenia10.3
31acute graft versus host disease10.3
32acute promyelocytic leukemia10.3
33bone marrow necrosis10.3
34granulocytopenia10.3
35paroxysmal nocturnal hemoglobinuria10.3
36tetraploidy10.3
37zygomycosis10.3
38myeloproliferative disorder10.3
39refractory anemia with excess blasts10.3
40myeloid sarcoma10.2
41acute myeloid leukemia10.2
42myeloid leukemia10.2
43mn110.2
44hypoxia10.2
45neurofibromatosis10.2
46klinefelter's syndrome10.2
47acute monocytic leukemia10.2
48polycythemia vera10.2
49bloom syndrome10.2
50acute interstitial pneumonia10.2

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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48OMIM
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Clinical features from OMIM:

601626

Drugs & Therapeutics for Acute Myeloid Leukemia, Adult

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Acute Myeloid Leukemia, Adult

Drug clinical trials:

Search ClinicalTrials for Acute Myeloid Leukemia, Adult

Search NIH Clinical Center for Acute Myeloid Leukemia, Adult

Search CenterWatch for Acute Myeloid Leukemia, Adult

Genetic Tests for Acute Myeloid Leukemia, Adult

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23GTR
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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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34MalaCards
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MalaCards organs/tissues related to Acute Myeloid Leukemia, Adult:

34
Myeloid

Animal Models for Acute Myeloid Leukemia, Adult or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Acute Myeloid Leukemia, Adult:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6KRAS, IRF1, JAK2

Publications for Acute Myeloid Leukemia, Adult

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Variations for Acute Myeloid Leukemia, Adult

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Acute Myeloid Leukemia, Adult:

65
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:

1 (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): c.935_991dup57 (p.Gln330_Leu331insGlnLysValLeuGluLeuThrSerAspAsnAspArgLeuArgLysArgValGluGln)duplicationPathogenicGRCh38Chr 19, 33301424: 33301480
20CEBPANM_004364.4(CEBPA): c.925_951dup27 (p.Leu317_Thr318insGluThrGlnGlnLysValLeuGluLeu)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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 54QIAGEN, 55R&D Systems
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Pathways related to Acute Myeloid Leukemia, Adult according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4KRAS, IRF1
29.2KRAS, JAK2
3
Show member pathways
9.2KRAS, JAK2
4
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
9.2KRAS, JAK2
59.2JAK2, KRAS
6
Show member pathways
9.2KRAS, JAK2
79.2ACSL6, JAK2
8
Show member pathways
Immune response MIF in innate immunity response61
9.0JAK2, IRF1
99.0IRF1, JAK2
109.0IRF1, JAK2
119.0IRF1, JAK2
12
Show member pathways
Transcription NF kB signaling pathway61
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response61
9.0JAK2, IRF1
139.0JAK2, IRF1
14
Show member pathways
IFN-gamma pathway39
9.0IRF1, JAK2
15
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
8.6KRAS, IRF1, JAK2
16
Show member pathways
8.6KRAS, IRF1, JAK2
17
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
8.6KRAS, IRF1, JAK2
18
Show member pathways
8.6JAK2, IRF1, KRAS

Compounds for genes affiliated with Acute Myeloid Leukemia, Adult

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46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Acute Myeloid Leukemia, Adult according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1guanylate469.4GMPS, IRF1
2imatinib46 52 1210.9KRAS, JAK2
3butyrate468.8KRAS, IRF1, JAK2
4oligonucleotide468.8KRAS, IRF1, JAK2
5phosphatidylinositol468.8JAK2, IRF1, KRAS
6Adenosine triphosphate25 129.7JAK2, GMPS, ACSL6
7oxygen46 259.6KRAS, IRF1, JAK2
8retinoic acid46 259.6KRAS, IRF1, JAK2
9estrogen468.5JAK2, IRF1, KRAS

GO Terms for genes affiliated with Acute Myeloid Leukemia, Adult

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17Gene Ontology
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Cellular components related to Acute Myeloid Leukemia, Adult according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:0451219.2KRAS, JAK2

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

idNameGO IDScoreTop Affiliating Genes
1activation of MAPKK activityGO:0001869.2KRAS, JAK2
2negative regulation of neuron apoptotic processGO:0435249.2KRAS, JAK2
3interferon-gamma-mediated signaling pathwayGO:0603338.7IRF1, JAK2
4cytokine-mediated signaling pathwayGO:0192218.7KRAS, IRF1, JAK2
5blood coagulationGO:0075968.5JAK2, IRF1, 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
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet