MCID: LKM061
MIFTS: 75

Leukemia, Acute Myeloid malady

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

Summaries for Leukemia, Acute Myeloid

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MedlinePlus:34 Leukemia is cancer of the white blood cells. white blood cells help your body fight infection. your blood cells form in your bone marrow. in leukemia, however, the bone marrow produces abnormal white blood cells. these cells crowd out the healthy blood cells, making it hard for blood to do its work. in acute myeloid leukemia (aml), there are too many of a specific type of white blood cell called a myeloblast. aml is the most common type of acute leukemia in adults. this type of cancer usually gets worse quickly if it is not treated. possible risk factors include smoking, previous chemotherapy treatment, and exposure to radiation. symptoms of aml include: fever shortness of breath easy bruising or bleeding bleeding under the skin weakness or feeling tired weight loss or loss of appetite tests that examine the blood and bone marrow diagnose aml. treatments include chemotherapy, other drugs, radiation therapy, stem cell transplants, and targeted therapy. targeted therapy uses substances that attack cancer cells without harming normal cells. once the leukemia is in remission, you need additional treatment to make sure that it does not come back. nih: national cancer institute

MalaCards based summary: Leukemia, Acute Myeloid, also known as acute myeloid leukemia, is related to myelodysplastic syndrome and sarcoma, and has symptoms including autosomal dominant inheritanceand acute myeloid leukemia. An important gene associated with Leukemia, Acute Myeloid is PICALM (phosphatidylinositol binding clathrin assembly protein), and among its related pathways are Dorso-ventral axis formation and IL-3 Signaling Pathway. The drugs cyclophosphamide and etoposide and the compounds beta-tyrosine and tandutinib have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related mouse phenotypes are liver/biliary system and reproductive system.

Disease Ontology:10 A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.

Description from OMIM:47 601626

Aliases & Classifications for Leukemia, Acute Myeloid

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Leukemia, Acute Myeloid, Aliases & Descriptions:

Name: Leukemia, Acute Myeloid 47 32
Acute Myeloid Leukemia 32 10 12 34
Aml - Acute Myeloid Leukemia 10 24
Leukemia, Acute Myelogenous 47 11
Myeloid Leukemia, Acute, M4/m4eo Subtype, Somatic 47
Leukemia, Acute Myeloid, Reduced Survival in 47
 
Leukemia, Acute Myeloid, Somatic 47
Leukemia, Acute Myeloblastic 11
Myelogenous Leukemia, Acute 11
Leukemia, Myelocytic, Acute 10
Acute Myeloblastic Leukemia 10
Acute Myelocytic Leukemia 43


Classifications:



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OMIM47 601626
Disease Ontology10 DOID:9119
ICD9CM29 205.0
MeSH35 D015470

Related Diseases for Leukemia, Acute Myeloid

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Diseases in the Myeloid Leukemia family:

leukemia, acute myeloid Leukemia, Chronic Myeloid
Subacute 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 Leukemia, Acute Myeloid via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 325)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndrome32.0SETBP1, GATA2
2sarcoma31.4ETV6, JAK2, KIT, TERT, RUNX1, KRAS
3myeloid leukemia31.4NPM1, GATA2, KIT, ETV6, JAK2, FLT3
4leukemia31.4KRAS, GATA2, NPM1, ARHGEF12, KIT, CEBPA
5mastocytosis31.2CHIC2, KIT
6systemic mastocytosis31.1JAK2, KIT
7chronic myelomonocytic leukemia31.1RUNX1, KIT, ETV6, JAK2, FLT3
8myelofibrosis31.1KIT, JAK2
9acute leukemia31.1NPM1, GATA2, KRAS, KIT, CEBPA, ETV6
10refractory anemia31.1FLT3, JAK2, RUNX1, KIT
11breast cancer31.0NPM1, GATA2, KRAS, KIT, TERT, ETV6
12eosinophilia30.9ETV6, JAK2, CHIC2
13essential thrombocythemia30.9KIT, JAK2
14down syndrome30.9FLT3, JAK2, ETV6, GATA2, RUNX1
15aplastic anemia30.9GATA2, TERT, FLT3
16polycythemia vera30.6KIT, FLT3, JAK2
17acute myelomonocytic leukemia30.5RUNX1, ETV6
18melanoma30.4KRAS, JAK2, FLT3, TERT, KIT
19myeloid sarcoma30.3FLT3, KIT
20acute myeloid leukemia, adult30.3NPM1, KIT, FLT3, RUNX1
21leukemia, acute promyelocytic30.3FLT3, RUNX1, GATA2, NPM1
22b-cell lymphomas30.2FLT3, JAK2, NPM1
23precursor t-cell acute lymphoblastic leukemia30.2GATA2, PICALM, FLT3, NUP214, RUNX1, ETV6
24hematologic cancer30.2NPM1, KIT, JAK2, FLT3, PICALM, ETV6
25leukemia, acute lymphoblastic30.2JAK2, KIT, KRAS, GATA2, FLT3, ETV6
26cytogenetically normal acute myeloid leukemia11.1
27core binding factor acute myeloid leukemia11.0
28wilms tumor10.9
29endotheliitis10.8
30hematopoietic stem cell transplantation10.8
31neutropenia10.8
32familial acute myeloid leukemia with mutated cebpa10.7
33acute myeloid leukemia with multilineage dysplasia10.7
34acute myeloblastic leukemia without maturation10.7
35aspergillosis10.7
36diphtheria10.7
37tetraploidy10.7
38diabetes insipidus10.6
39mediastinitis10.6
40refractory anemia with excess blasts10.6
41severe congenital neutropenia10.6
42invasive aspergillosis10.6
43multiple myeloma10.5
44thrombocytopenia10.5
45myeloma10.5
46thrombocytosis10.5
47zygomycosis10.5
48familial acute myelocytic leukemia10.5
49minimally differentiated acute myeloblastic leukemia10.5
50leukostasis10.5

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



Diseases related to leukemia, acute myeloid

Symptoms for Leukemia, Acute Myeloid

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Symptoms by clinical synopsis from OMIM:

601626

Clinical features from OMIM:

601626

HPO human phenotypes related to Leukemia, Acute Myeloid:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 acute myeloid leukemia HP:0004808

Drugs & Therapeutics for Leukemia, Acute Myeloid

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Drug clinical trials:

Search ClinicalTrials for Leukemia, Acute Myeloid

Search NIH Clinical Center for Leukemia, Acute Myeloid

Inferred drug relations via UMLS62/NDF-RT41:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Leukemia, Acute Myeloid cell therapies at LifeMap Discovery.

Genetic Tests for Leukemia, Acute Myeloid

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Genetic tests related to Leukemia, Acute Myeloid:

id Genetic test Affiliating Genes
1 Aml - Acute Myeloid Leukemia24

Anatomical Context for Leukemia, Acute Myeloid

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MalaCards organs/tissues related to Leukemia, Acute Myeloid:

33
Myeloid, Bone, Bone marrow, Skin, Testes

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Leukemia, Acute Myeloid:
id TissueAnatomical CompartmentCell Relevance
1 BloodHematopoietic Bone MarrowCommon Myeloid Progenitor Cells Potential therapeutic candidate, affected by disease
2 BloodHematopoietic Bone MarrowHematopoietic Stem Cells Potential therapeutic candidate

Animal Models for Leukemia, Acute Myeloid or affiliated genes

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Publications for Leukemia, Acute Myeloid

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Articles related to Leukemia, Acute Myeloid:

idTitleAuthorsYear
1
Concomitant chronic lymphocytic leukemia, acute myeloid leukemia, and thrombosis with protein C deficiency. Case report and review of the literature. (2646007)
1989

Variations for Leukemia, Acute Myeloid

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

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:

7 (show all 31)
id Gene Variation 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
28GATA2NM_001145661.1(GATA2): c.1061C> T (p.Thr354Met)single nucleotide variantPathogenic, risk factorrs387906631GRCh37Chr 3, 128200744: 128200744
29TGM6NM_198994.2(TGM6): c.1550T> G (p.Leu517Trp)single nucleotide variantPathogenicrs387907097GRCh37Chr 20, 2398091: 2398091
30ETV6NM_001987.4(ETV6): c.226G> T (p.Glu76Ter)single nucleotide variantPathogenicrs121434637GRCh37Chr 12, 11992136: 11992136
31ETV6NM_001987.4(ETV6): c.1307_1308insGGG (p.His436delinsGlnGly)insertionPathogenicGRCh37Chr 12, 12043928: 12043929

Expression for genes affiliated with Leukemia, Acute Myeloid

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

Pathways for genes affiliated with Leukemia, Acute Myeloid

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Compounds for genes affiliated with Leukemia, Acute Myeloid

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

(show all 37)
idCompoundScoreTop Affiliating Genes
1beta-tyrosine4510.4KIT, JAK2
2tandutinib4510.4KIT, FLT3
3pkc 4124510.3FLT3, KIT
4lestaurtinib45 6111.3JAK2, FLT3
5ag-12964510.3FLT3, KIT
6su54164510.2KIT, FLT3
7ponatinib51 1311.2KIT, FLT3
8methylcellulose4510.2GATA2, KIT, FLT3
9hydroxyurea45 51 1312.1GATA2, KIT, JAK2
10leptomycin b45 6111.1NPM1, LPP, NUP214
11sunitinib45 51 1312.1KIT, FLT3
12agarose4510.0FLT3, KIT, NPM1
13gp 1304510.0KIT, JAK2, FLT3
14regorafenib51 1311.0KRAS, KIT
15paclitaxel45 51 1311.9TERT, KIT, KRAS, NPM1
16paraffin459.8TERT, KIT, KRAS, NPM1
17valine459.8JAK2, KIT, KRAS
18phosphoinositide459.8FLT3, JAK2, KIT, KRAS
195-aza-2deoxycytidine459.7TERT, FLT3, JAK2
20aspartate459.7FLT3, JAK2, GMPS, KIT, NPM1
21leucine459.7PICALM, JAK2, CEBPA, KIT, GATA2, NPM1
22cycloheximide459.7NPM1, GATA2, KIT, JAK2
23arsenite45 2610.6RUNX1, TERT, FLT3, JAK2
24thymidine45 2610.6KIT, JAK2, FLT3, TERT
25l-glutamine30 26 1311.5GMPS, TGM6
26butyrate459.5RUNX1, TERT, JAK2, KRAS, GATA2
27phosphatidylinositol459.5KRAS, KIT, JAK2, FLT3, TERT
28doxorubicin45 51 1311.5RUNX1, TERT, FLT3, KIT, NPM1
29atp45 3010.4NPM1, KIT, GMPS, JAK2, FLT3
30rapamycin459.4TERT, FLT3, JAK2, KIT, KRAS, NPM1
31imatinib45 51 1311.3RUNX1, FLT3, JAK2, ETV6, KIT, KRAS
32estrogen459.3TERT, JAK2, CEBPA, KIT, KRAS, GATA2
33threonine459.2RUNX1, TERT, FLT3, JAK2, KIT, NPM1
34vegf459.0RUNX1, TERT, FLT3, JAK2, ETV6, KIT
35oligonucleotide458.9RUNX1, TERT, FLT3, JAK2, KIT, KRAS
36tyrosine458.6RUNX1, TERT, FLT3, JAK2, ETV6, KIT
37retinoic acid45 269.4NPM1, RUNX1, TERT, FLT3, JAK2, ETV6

GO Terms for genes affiliated with Leukemia, Acute Myeloid

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Cellular components related to Leukemia, Acute Myeloid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056347.9NPM1, PICALM, NUP214, SETBP1, JAK2, CEBPA

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.2KIT, JAK2
2definitive hemopoiesisGO:006021610.1GATA2, RUNX1
3myeloid cell differentiationGO:003009910.0RUNX1, CEBPA
4positive regulation of tyrosine phosphorylation of Stat3 proteinGO:004251710.0KIT, JAK2
5positive regulation of phosphatidylinositol 3-kinase signalingGO:001406810.0KIT, JAK2, FLT3
6embryonic placenta developmentGO:000189210.0CEBPA, GATA2
7embryonic hemopoiesisGO:003516210.0RUNX1, KIT
8peptidyl-tyrosine phosphorylationGO:001810810.0FLT3, JAK2, KIT
9myeloid progenitor cell differentiationGO:00023189.9KIT, FLT3, RUNX1
10negative regulation of cell proliferationGO:00082859.7FLT3, JAK2, CEBPA, NPM1
11protein autophosphorylationGO:00467779.7KIT, JAK2, FLT3
12hemopoiesisGO:00300979.7RUNX1, PICALM, FLT3, KIT
13positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.7KIT, FLT3
14positive regulation of cell proliferationGO:00082849.6KRAS, KIT, JAK2, FLT3
15cytokine-mediated signaling pathwayGO:00192219.3KRAS, NUP214, FLT3, JAK2, CEBPA, KIT

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein tyrosine kinase activityGO:000471410.0KIT, FLT3
2phosphatidylinositol 3-kinase bindingGO:00435489.6JAK2, FLT3
3protein homodimerization activityGO:00428038.8RUNX1, TERT, FLT3, CEBPA, KIT, NPM1
4protein bindingGO:00055156.7ARHGEF12, RUNX1, TERT, PICALM, NUP214, FLT3

Products for genes affiliated with Leukemia, Acute Myeloid

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Sources for Leukemia, Acute Myeloid

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27ICD10
28ICD10 via Orphanet
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30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
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40NCIt
41NDF-RT
44NINDS
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47OMIM
48OMIM via Orphanet
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53QIAGEN
58SNOMED-CT via Orphanet
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63UMLS via Orphanet