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AML
MCID: LKM061
MIFTS: 84

Leukemia, Acute Myeloid (AML)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Leukemia, Acute Myeloid

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MalaCards integrated aliases for Leukemia, Acute Myeloid:

Name: Leukemia, Acute Myeloid 57 38
Acute Myeloid Leukemia 12 75 53 59 74 37 29 6 43 15 17
Acute Myelogenous Leukemia 12 75 53 59 15
Leukemia, Acute Myelogenous 57 74 13 40
Aml 57 59 74 3
Acute Undifferentiated Leukemia 59 55 72
Acute Myeloblastic Leukemia 12 75 74
Leukemia, Acute Myeloid, Susceptibility to 57 6
Childhood Acute Myeloid Leukemia 12 17
Leukemia, Myelocytic, Acute 12 72
Acute Myelocytic Leukemia 75 74
Leukemia, Myeloid, Acute 44 40
Secondary Aml 59 55
Therapy Related Acute Myeloid Leukemia and Myelodysplastic Syndrome 59
Acute Myeloid Leukaemia with Myelodysplasia-Related Features 59
Acute Myeloid Leukemia, Minimal Differentiation, Fab M0 59
Leukemia, Acute Myeloid, Reduced Survival in, Somatic 57
Acute Myeloid Leukemia with Recurrent Genetic Anomaly 59
Acute Myeloid Leukemia with Cebpa Somatic Mutations 59
Acute Myeloid Leukemia with Multilineage Dysplasia 59
Myeloid Leukemia, Acute, M4/m4eo Subtype, Somatic 57
Therapy-Related Aml and Myelodysplastic Syndrome 59
Aml with Myelodysplasia-Related Features 59
Acute Leukemia of Indeterminate Lineage 59
Acute Myeloid Leukemia [icd-O:m9861/3] 12
Pure Familial Acute Myeloid Leukemia 59
Acute Leukemia of Ambiguous Lineage 59
Unclassified Acute Myeloid Leukemia 59
Aml with Recurrent Genetic Anomaly 59
Leukemia, Acute Myeloid, Somatic 57
Pediatric Acute Myeloid Leukemia 12
Aml with Cebpa Somatic Mutations 59
Inherited Acute Myeloid Leukemia 59
Secondary Acute Myeloid Leukemia 59
Acute Non-Lymphoblastic Leukemia 74
Acute Myeloid Leukemia, Somatic 57
Aml with Multilineage Dysplasia 59
Mixed Phenotype Acute Leukemia 59
Acute Non-Lymphocytic Leukemia 74
Aml - Acute Myeloid Leukemia 12
Mixed Lineage Acute Leukemia 59
Acute Biphenotypic Leukemia 72
Hybrid Acute Leukemia 59
Pure Familial Aml 59
Unclassified Aml 59
Inherited Aml 59
Familial Aml 59
Mpal 59

Characteristics:

Orphanet epidemiological data:

59
acute myeloid leukemia
Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe),1-5/10000 (Europe),1-9/100000 (France),1-9/100000 (Denmark),1-9/100000 (United States); Age of onset: All ages; Age of death: any age;
acute leukemia of ambiguous lineage
Age of onset: All ages;
therapy related acute myeloid leukemia and myelodysplastic syndrome
Age of onset: All ages;
acute myeloid leukaemia with myelodysplasia-related features
Age of onset: Adult;

OMIM:

57
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
evidence of anticipation
mean onset age 57 years, 32 years and 13 years in successive generations
many genes with somatic mutation


HPO:

32
leukemia, acute myeloid:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0070323 DOID:9119
OMIM 57 601626
KEGG 37 H00003
ICD9CM 35 205.0
MeSH 44 D015470
SNOMED-CT 68 17788007 91861009
MESH via Orphanet 45 D015456 D015470
ICD10 via Orphanet 34 C92.0 C92.8 C95.0
UMLS via Orphanet 73 C0023464 C0023467 C0280141 more
UMLS 72 C0023464 C0023467 C0280141
Sources

Summaries for Leukemia, Acute Myeloid

About this section
MedlinePlus : 43 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 leukemia and cytogenetically normal acute myeloid leukemia, and has symptoms including angina pectoris, edema and chest pain. An important gene associated with Leukemia, Acute Myeloid is CEBPA (CCAAT Enhancer Binding Protein Alpha), and among its related pathways/superpathways are Acute myeloid leukemia and Transcriptional misregulation in cancer. The drugs Dopamine and Micafungin have been mentioned in the context of this disorder. Affiliated tissues include Blood and Blood, and related phenotypes are acute myeloid leukemia and Reduced mammosphere formation

Disease Ontology : 12 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.

NIH Rare Diseases : 53 Acute myeloid leukemia (AML) is a cancer that affects the blood and bone marrow. Conditions are generally called "acute" when they develop quickly and have an aggressive course. The signs and symptoms of AML vary but may include easy bruising; bone pain or tenderness; fatigue; fever; frequent nosebleeds; bleeding from the gums; shortness of breath; and/or weightloss. AML is one of the most common types of leukemia among adults and is rarely diagnosed in people under age 40. There are many potential causes of AML such as certain blood disorders, inherited syndromes, environmental exposures, and drug exposures; however, most people who develop AML have no identifiable risk factor. Treatment may include a combination of chemotherapy, radiation therapy, bone marrow transplant and/or other drug therapy.

CDC : 3 Amyotrophic lateral sclerosis (ALS), sometimes called Lou Gehrig's disease, is a progressive disease that attacks the nerve cells that control voluntary movement. The National ALS Registry is a congressionally mandated registry for persons in the U.S. with ALS. It is the only population-based registry in the U.S. that collects information to help scientists learn more about who gets ALS and its causes. No one knows for sure what causes ALS and currently there is no cure.

KEGG : 37
Acute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation program. AML accounts for approximately 80% of all adult leukemias and remains the most common cause of leukemia death. Two major types of genetic events have been described that are crucial for leukemic transformation. A proposed necessary first event is disordered cell growth and upregulation of cell survival genes. The most common of these activating events were observed in the RTK Flt3, in N-Ras and K-Ras, in Kit, and sporadically in other RTKs. Alterations in myeloid transcription factors governing hematopoietic differentiation provide second necessary event for leukemogenesis. Transcription factor fusion proteins such as PML-RARalpha (in Acute promyelocytic leukemia, a subtype of AML), AML-ETO or PLZF-RARalpha block myeloid cell differentiation by repressing target genes. In other cases, the transcription factors themselves are mutated.

UniProtKB/Swiss-Prot : 74 Leukemia, acute myelogenous: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.

Wikipedia : 75 Acute myeloblastic leukemia is a form of myeloid leukemia affecting... more...

More information from OMIM: 601626
Sources

Related Diseases for Leukemia, Acute Myeloid

About this section

Diseases in the Myeloid Leukemia family:

Leukemia, Acute Myeloid Leukemia, Chronic Myeloid
Subacute 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 Suite gene sharing:

(show top 50) (show all 1197)
# Related Disease Score Top Affiliating Genes
1 leukemia 35.3 RUNX1 NRAS NPM1 KIT JAK2 FLT3
2 cytogenetically normal acute myeloid leukemia 35.1 NPM1 FLT3 CEBPA
3 acute erythroid leukemia 34.9 PICALM JAK2 GATA2 CEBPA
4 myeloid leukemia 34.5 RUNX1 PICALM NRAS NPM1 KIT JAK2
5 acute myeloid leukemia with t(8;21)(q22;q22) translocation 34.5 RUNX1 KIT FLT3 CEBPA
6 myelodysplastic syndrome 33.4 TERT RUNX1 NRAS NPM1 KRAS KIT
7 acute leukemia 32.9 RUNX1 MLLT10 KIT JAK2 FLT3 ETV6
8 acute promyelocytic leukemia 32.8 RUNX1 NRAS NPM1 FLT3 CSF3R CEBPA
9 chronic myelomonocytic leukemia 32.7 RUNX1 KIT JAK2 FLT3 ETV6 DNMT3A
10 leukemia, acute lymphoblastic 32.4 RUNX1 PICALM FLT3 ETV6
11 leukemia, chronic myeloid 32.4 RUNX1 NRAS KIT JAK2 GATA2 FLT3
12 hematologic cancer 32.4 RUNX1 PICALM NPM1 MLLT10 KIT JAK2
13 acute myeloblastic leukemia with maturation 32.3 NPM1 KIT FLT3
14 juvenile myelomonocytic leukemia 32.3 RUNX1 NRAS KRAS JAK2 FLT3 DNMT3A
15 bone marrow cancer 32.2 RUNX1 KIT JAK2 FLT3 ETV6 CSF3R
16 myeloma, multiple 32.2 NRAS KRAS KIT JAK2
17 myeloid sarcoma 32.1 NPM1 KIT FLT3
18 core binding factor acute myeloid leukemia 32.1 RUNX1 NRAS KRAS KIT JAK2 FLT3
19 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 32.0 RUNX1 KIT FLT3 ETV6
20 precursor t-cell acute lymphoblastic leukemia 31.8 PICALM NUP214 MLLT10 FLT3 ETV6
21 aplastic anemia 31.8 TERT NRAS GATA2 FLT3 CSF3R
22 leukemia, acute lymphoblastic 3 31.8 RUNX1 FLT3 ETV6
23 acute myeloblastic leukemia without maturation 31.7 NPM1 FLT3
24 atypical chronic myeloid leukemia 31.7 RUNX1 JAK2 CSF3R
25 aleukemic leukemia cutis 31.6 RUNX1 NPM1 FLT3
26 neutrophilia, hereditary 31.5 JAK2 FLT3 CSF3R
27 acute t cell leukemia 31.5 NUP214 MLLT10 LPP
28 8p11 myeloproliferative syndrome 31.4 RUNX1 KIT FLT3
29 b-cell childhood acute lymphoblastic leukemia 31.4 RUNX1 ETV6
30 subacute myeloid leukemia 31.4 JAK2 FLT3
31 familial acute myeloid leukemia with mutated cebpa 13.0
32 therapy related acute myeloid leukemia and myelodysplastic syndrome 12.6
33 megakaryocytic leukemia 12.0
34 platelet disorder, familial, with associated myeloid malignancy 11.9
35 lymphedema, primary, with myelodysplasia 11.9
36 sideroblastic anemia 11.7
37 acute basophilic leukemia 11.7
38 neutropenia, severe congenital, 3, autosomal recessive 11.7
39 kidney angiomyolipoma 11.7
40 chromosome 5q deletion syndrome 11.6
41 acute myeloid leukemia with t(6;9)(p23;q34) 11.6
42 acute myeloid leukemia with t(9;11)(p22;q23) 11.6
43 ataxia-pancytopenia syndrome 11.5
44 fanconi anemia, complementation group a 11.5
45 erythroleukemia, familial 11.4
46 poikiloderma with neutropenia 11.4
47 shwachman-diamond syndrome 2 11.4
48 lymphangioleiomyomatosis 11.4
49 childhood leukemia 11.4
50 acute myeloid leukemia with t(8;16)(p11;p13) translocation 11.4

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



Diseases related to Leukemia, Acute Myeloid
Sources

Symptoms & Phenotypes for Leukemia, Acute Myeloid

About this section

Human phenotypes related to Leukemia, Acute Myeloid:

32
# Description HPO Frequency HPO Source Accession
1 acute myeloid leukemia 32 HP:0004808

Symptoms via clinical synopsis from OMIM:

57
Hematology:
acute myelogenous leukemia (aml)

Clinical features from OMIM:

601626

UMLS symptoms related to Leukemia, Acute Myeloid:


angina pectoris, edema, chest pain

GenomeRNAi Phenotypes related to Leukemia, Acute Myeloid according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 CEBPA CSF3R DNMT3A ETV6 KRAS NRAS

MGI Mouse Phenotypes related to Leukemia, Acute Myeloid:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.48 CEBPA CSF3R DNMT3A ETV6 FLT3 GATA2
2 hematopoietic system MP:0005397 10.34 CEBPA CSF3R DNMT3A ETV6 FLT3 GATA2
3 growth/size/body region MP:0005378 10.32 CEBPA DNMT3A ETV6 FLT3 GATA2 JAK2
4 homeostasis/metabolism MP:0005376 10.32 CEBPA DNMT3A ETV6 FLT3 GATA2 JAK2
5 mortality/aging MP:0010768 10.32 CEBPA CHIC2 CSF3R DNMT3A ETV6 FLT3
6 embryo MP:0005380 10.31 DNMT3A ETV6 GATA2 JAK2 KIT KRAS
7 immune system MP:0005387 10.27 CEBPA CSF3R DNMT3A ETV6 FLT3 JAK2
8 endocrine/exocrine gland MP:0005379 10.26 CEBPA DNMT3A ETV6 FLT3 GATA2 JAK2
9 cardiovascular system MP:0005385 10.16 CEBPA ETV6 GATA2 KIT KRAS NPM1
10 integument MP:0010771 10.13 CEBPA CHIC2 ETV6 JAK2 KIT KRAS
11 liver/biliary system MP:0005370 10.06 CEBPA GATA2 JAK2 KIT KRAS NPM1
12 neoplasm MP:0002006 10.02 CEBPA ETV6 FLT3 JAK2 KIT KRAS
13 no phenotypic analysis MP:0003012 9.86 CEBPA ETV6 FLT3 KIT KRAS NRAS
14 normal MP:0002873 9.81 CEBPA ETV6 GATA2 JAK2 KIT KRAS
15 pigmentation MP:0001186 9.35 CHIC2 KIT KRAS NRAS PICALM
16 reproductive system MP:0005389 9.23 CEBPA DNMT3A GATA2 JAK2 KIT KRAS
Sources

Drugs & Therapeutics for Leukemia, Acute Myeloid

About this section

Drugs for Leukemia, Acute Myeloid (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 673)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
3
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
4
Nicotine Approved Phase 4 54-11-5 942 89594
5
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
6
Lenalidomide Approved Phase 4 191732-72-6 216326
7
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
9
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
10
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
11
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
12 Molgramostim Investigational Phase 4 99283-10-0
13
Aclarubicin Investigational Phase 4 57576-44-0 451415
14 Autonomic Agents Phase 4
15 Neurotransmitter Agents Phase 4
16 Psychotropic Drugs Phase 4
17 Liver Extracts Phase 4
18 Dopamine Agents Phase 4
19 Antidepressive Agents Phase 4
20 Antidepressive Agents, Second-Generation Phase 4
21 Central Nervous System Stimulants Phase 4
22 Neurotransmitter Uptake Inhibitors Phase 4
23 Cholinergic Agents Phase 4
24 Nicotinic Agonists Phase 4
25 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
26 Dopamine Uptake Inhibitors Phase 4
27 Antiparasitic Agents Phase 4
28 Antiprotozoal Agents Phase 4
29 Micronutrients Phase 4
30 Trace Elements Phase 4
31 Vitamins Phase 4
32 Nutrients Phase 4
33 Calciferol Phase 4
34 Calcium, Dietary Phase 4
35 Bone Density Conservation Agents Phase 4
36 Vitamin D2 Phase 4
37 Ergocalciferols Phase 4
38 Hydroxycholecalciferols Phase 4
39 Angiogenesis Inhibitors Phase 4
40 Angiogenesis Modulating Agents Phase 4
41 Imatinib Mesylate Phase 4 220127-57-1 123596
42
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
43
Ondansetron Approved Phase 3 99614-02-5 4595
44
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
45
Fosaprepitant Approved Phase 3 172673-20-0 219090
46
Aprepitant Approved, Investigational Phase 3 170729-80-3 151165 6918365
47
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
48
Vindesine Approved, Investigational Phase 3 59917-39-4, 53643-48-4 40839
49
Lenograstim Approved, Investigational Phase 3 135968-09-1
50
Iodine Approved, Investigational Phase 3 7553-56-2 807

Interventional clinical trials:

(show top 50) (show all 2793)
# Name Status NCT ID Phase Drugs
1 Treatment of Elderly Patients (>60 Years) With Acute Myeloblastic Leukemia or Advanced MDS (RAEB-T): An Open Randomized Study to Test the Efficacy of G-CSF-Priming and a Feasibility Trial of Dose-Reduced Allogeneic Transplantation and of Autologous Stem Cell Transplantation Unknown status NCT00199147 Phase 4 Cytarabine;Etoposide;Idarubicin;G-CSF;Fludarabine
2 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4 decitabine
3 Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT Unknown status NCT02027064 Phase 4 Interferon-alpha
4 A Randomized Comparison of Fludarabine in Combination With Cytarabine Versus High -Dose Cytarabine in Post-remission Therapy for AML1-ETO Acute Myeloid Leukemia Unknown status NCT02024308 Phase 4 Fludarabine;Cytarabine
5 Multicenter Randomised Clinical Trial in Acute Myeloid Leukemia Treatment Based on Three Anthracyclines, Comparing Two Types of Consolidation With Different ARA-C Doses Followed by One Year Maintenance Unknown status NCT01587430 Phase 4 high dose ARA-C;standard dose ARA-C
6 A Phase IV, Randomized Study to Evaluate the Safety and Efficacy of Idarubicin at Different Dosages Combined With Cytarabine as Induction Therapy for Newly Diagnosed Acute Myeloid Leukaemia Unknown status NCT02277847 Phase 4 Idarubicin(8mg/m2) and cytosine arabinoside;Idarubicin(10mg/m2), cytosine arabinoside
7 A Phase IV Study of Corticosteroids As Prophylaxis for Infusion-Related Adverse Events to Mylotarg® in Patients With Acute Myelogenous Leukemia (AML) Completed NCT00304447 Phase 4 Mylotarg
8 Incidence of Respiratory Viral Infections During AML Induction and Consolidation Chemotherapy Completed NCT01819792 Phase 4
9 Open-Label, Multicenter, Effects of Remission Maintenance Therapy With Ceplene® , Given in Conjunction With Low-Dose Interleukin-2, on Immune Response and Minimal Residual Disease in Adult Patients With AML in First Complete Remission Completed NCT01347996 Phase 4 histamine dihydrochloride and IL-2
10 Evaluation of Allogeneic Marrow Transplants Depleted of T-Cells by CD34+ Selection in Patients Undergoing Transplantation With an Unrelated Matched or 1 Antigen Mismatched Donor or a 1 Antigen Mismatched Related Donor Completed NCT00003398 Phase 4 cyclophosphamide;thiotepa
11 PETHEMA LAM07: Prospective, Multicenter, Uncontrolled Cohort Study to Analyze the Efficacy of a Risk Adapted Treatment Strategy, Including Gemtuzumab Ozogamicin (GO) During Consolidation, for Patients With Acute Myeloid Leukemia (AML) Completed NCT01041040 Phase 4 gemtuzumab
12 FLAT: Fludarabine, Cytarabine and Topotecan in Treating Patients With Refractory or Relapsed Acute Myeloid Leukemia Completed NCT00488709 Phase 4 Topotecan;Fludarabine;Cytarabine
13 AML2003 - Randomized Comparison Between Standard-Therapy and Intensified Therapy for Adult Acute Myeloid Leukemia Patients <= 60 Years. A Prospective, Randomized, Multi-center Therapy-Optimizing-Study. Completed NCT00180102 Phase 4 Cytarabine vs. Cytarabine+Amsacrine+Mitoxantrone
14 AML96 - Risk-Adapted and Randomized Postremission-Therapy for Adult Acute Myeloid Leukemia Patients. A Cooperative AML-Study of the German SHG-Study Group. Completed NCT00180115 Phase 4 Cytarabine Dosage
15 A Randomized Open-Label Trial of Posaconazole Versus Micafungin for Prophylaxis Against Invasive Fungal Infections During Neutropenia in Patients Undergoing Chemotherapy for Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia or Myelodysplastic Syndrome Completed NCT01200355 Phase 4 micafungin;posaconazole
16 FLAG-IDA Chemotherapy Induction Follow by Intensive Chemotherapy Postremission +/- Autologous Hemopoietic Stem Cell Transplantation or Bone Marrow Transplantation in Patients With High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia. Completed NCT00487448 Phase 4 Fludarabine;Cytarabine;G-CSF;Idarubicin
17 A Phase 4 Study of the Pharmacokinetics of Oral Posaconazole (SCH 56592) Among Patients With Compromised Gastrointestinal Function and at High Risk for Invasive Fungal Infection Completed NCT00686543 Phase 4 Posaconazole
18 Therapy of AML in Patients Older Than 60 Years: Randomized Comparison of a Double Induction With Daunorubicin and AraC (as Continuous Infusion) With a Double Induction With Mitoxantrone and Intermittent, Medium High Dose AraC Completed NCT00180167 Phase 4 randomization between two established Chemotherapies
19 PETHEMA-LAM99:Treatment of the Acute Myeloblastic Leukaemia in Patients Over 65 Years Completed NCT00464217 Phase 4 ARA-C;Idarubicin;Leucomax
20 A Clinical Trial to Evaluate the Efficacy and Safety of Recombinant Human Thrombopoietin in the Treatment of Thrombocytopenia After Chemotherapy in Acute Myeloid Leukemia Completed NCT02267993 Phase 4 recombinant human thrombopoietin
21 Comparing the Lozenge to the Patch for Smoking Cessation Completed NCT00365508 Phase 4 nicotine lozenge;nicotine patch
22 Enhancing Tobacco Use Treatment for African American Light Smokers Completed NCT00666978 Phase 4 bupropion hydrochloride
23 Fludarabine and Cytarabine Versus High-dose Cytarabine in Consolidation Treatment of Core-bing Factor Acute Myeloid Leukemia: A Prospective, Multicenter, Randomized Study Recruiting NCT02926586 Phase 4 Fludarabine;Cytarabine
24 G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor: a Prospective, Multicentre, Randomised Controlled Trial Recruiting NCT02933333 Phase 4
25 Early Tapering of Immunosuppressive Agents After Allogeneic Hematopoietic Stem Cell Transplantation Can Improve the Survival of Patients With Advanced Acute Myeloid Leukemia. Recruiting NCT03150134 Phase 4 Cyclosporine;routine reduction of immunosuppressive drugs(cyclosporine)
26 Study 200170: A Rollover Study to Provide Continued Treatment With Eltrombopag Recruiting NCT01957176 Phase 4 ELT
27 Pharmacokinetics of Posaconazole (Noxafil®) as Prophylaxis for Invasive Fungal Infections Recruiting NCT02805946 Phase 4 posaconazole
28 A SINGLE ARM, OPEN-LABEL, PHASE 4 STUDY EVALUATING QT INTERVAL, PHARMACOKINETICS, AND SAFETY OF GEMTUZUMAB OZOGAMICIN (MYLOTARG (TRADEMARKER)) AS A SINGLE-AGENT REGIMEN IN PATIENTS WITH RELAPSED OR REFRACTORY CD33-POSITIVE ACUTE MYELOID LEUKEMIA Recruiting NCT03727750 Phase 4 Gemtuzumab Ozogamicin
29 A Prospective, Randomized, Controlled Trial of Decitabine Versus Conventional Chemotherapy for Maintenance Therapy of Patients With Acute Myeloid Leukemia With t(8;21) Active, not recruiting NCT03026842 Phase 4 Decitabine;Daunorubicin, Cytarabine;Mitoxantrone, Cytarabine;Aclacinomycin, Cytarabine
30 Incidence of Invasive Fungal Disease in Patients Receiving Immunosuppressive Therapy, Intensive Chemotherapy or Reduced Intensity Haematopoietic Stem Cell Transplantation on Posaconazole Prophylaxis Active, not recruiting NCT02875743 Phase 4 Posaconazole
31 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Enrolling by invitation NCT03176849 Phase 4
32 The Feasibility of Safely Managing Patients Receiving Induction With Liposomal Daunorubicin and Cytarabine (CPX-351) for Acute Myeloid Leukemia (AML) in an Outpatient Environment Not yet recruiting NCT03988205 Phase 4 CPX-351
33 PILOT STUDY PHASE II, Multicenter, Non-randomized, TO ASSESS THE EFFICACY AND SAFETY OF LENALIDOMIDE IN INDUCTION AND POST-INDUCTION IN PATIENTS WITH NOVO Acute Myeloid Leukemia (AML) WITH Cytogenetic Abnormality Monosomy 5 Terminated NCT01198054 Phase 4 Lenalidomide
34 Are the Secondary Chromosome Abnormalities Seen in Chronic Myeloid Leukemia (CML) Cells Induced to Ph-Chromosome Negativity by Imatinib a Result of Chromosome Instability or a Side Effect of the Therapy - a Study in GIST (Gastrointestinal Stromal Cell Tumors) Patients Treated With Imatinib. Terminated NCT00461929 Phase 4
35 Phase III, Randomized, Multicenter Study to Assess the Efficacy and Safety of HuM195 (Recombinant Humanized Anti-CD33 Monoclonal Antibody) in Combination With Standardized Chemotherapy Compared to Standardized Chemotherapy Alone in the Treatment of Patients With Refractory or First-Relapsed Acute Myelogenous Leukemia (AML) Unknown status NCT00006045 Phase 3 cytarabine;etoposide;mitoxantrone hydrochloride
36 Phase III Open-Label Randomized Study of Amonafide L-Malate in Combination With Cytarabine Compared to Daunorubicin in Combination With Cytarabine in Patients With Secondary Acute Myeloid Leukemia (AML)- The ACCEDE Study Unknown status NCT00715637 Phase 3 Daunorubicin and Cytarabine;Amonafide and Cytarabine
37 A Phase 3, Randomized, Double-Blind, Multicenter Study of Proteinase 3 PR1 Peptide Mixed With Montanide ISA-51 VG Adjuvant and Administered With GM-CSF in Elderly Patients With AML in First Complete Remission or Adults in Second Complete Remission: A Pivotal Study Unknown status NCT00454168 Phase 3
38 RANDOMIZED PHASE III STUDY OF INDUCTION (ICE VS MICE VS DCE) AND INTENSIVE CONSOLIDATION (IDIA VS NOVIA VS DIA) FOLLOWED BY BONE MARROW TRANSPLANTATION IN ACUTE MYELOGENOUS LEUKEMIA: AML 10 PROTOCOL Unknown status NCT00002549 Phase 3 busulfan;cyclophosphamide;cytarabine;daunorubicin hydrochloride;etoposide;idarubicin;mesna;mitoxantrone hydrochloride
39 Gemtuzumab Ozogamicin (GO) Monotherapy Versus Standard Supportive Care for Previously Untreated AML in Elderly Patients Who Are Not Eligible for Intensive Chemotherapy: A Randomized Phase II/III Trial (AML-19) of the EORTC-LG and GIMEMA-ALWP Unknown status NCT00091234 Phase 2, Phase 3 gemtuzumab ozogamicin
40 ACUTE MYELOID LEUKAEMIA TRIAL 12 Unknown status NCT00002658 Phase 3 amsacrine;cyclophosphamide;cytarabine;daunorubicin hydrochloride;etoposide;idarubicin;mitoxantrone hydrochloride;thioguanine;tretinoin
41 Autologous Peripheral Blood Stem Cell Transplantation (PSCT) Versus a Second Intensive Consolidation Course After a Common Induction and Consolidation Course in Patients With Bad Prognosis Myelodysplastic Syndromes (MDS) and Acute Myelogenous Leukemia Secondary (SAML) to MDS of More Acute Than 6 Months Duration Unknown status NCT00002926 Phase 3 cytarabine;etoposide;idarubicin
42 Randomised Trial on Allogeneic Haematopoietic Stem Cell Transplantation in Patients Under the Age of 60 Years With Acute Myeloid Leukemia of Intermediate Risk in First Complete Remission and a Matched Sibling or Unrelated Donor (ETAL-1) Unknown status NCT01246752 Phase 3 Consolidation chemotherapy, i.e. High-dose Cytarabine (HiDAC)
43 Decitabine Augments for Post Allogeneic Stem Cell Transplantation in Patients With Acute Myeloid Leukemia and Myelodysplastic Syndrome Unknown status NCT01809392 Phase 2, Phase 3 decitabine
44 The Value of High Dose Versus Standard Dose ARA-C During Induction and of IL-2 After Intensive Consolidation/Autologous Stem Cell Transplantation in Patients (Age 15-60 Years) With Acute Myelogenous Leukemia. A Randomized Phase II Trial of the EORTC and the GIMEMA-ALWP Unknown status NCT00004128 Phase 3 busulfan;cyclophosphamide;cytarabine;daunorubicin hydrochloride;etoposide
45 Multicenter Protocol in Treating Patients With Childhood Acute Myeloid Leukemia. Randomized Study of Maintenance Treatment With Interleukin-2 Unknown status NCT00149162 Phase 3 proleukin
46 A Randomised Study Comparing an Oral Regimen (Idarubicin and Etoposide) With an Intravenous Regimen (MAE) for Consolidation in Patients Over 55 Years With Acute Myeloid Leukaemia in First Complete Remission Unknown status NCT00003602 Phase 3 cytarabine;etoposide;idarubicin;mitoxantrone hydrochloride
47 Multicenter Therapy-Optimization Trial AML-BFM 2004 for the Treatment of Acute Myeloid Leukemias in Children and Adolescents Unknown status NCT00111345 Phase 2, Phase 3 Anthracyclines;liposomal daunorubicin;2-CDA;AI
48 Randomized Comparison Between Two Dose Levels of Daunorubicin and Between One Versus Two Cycles of Induction Therapy for Adult Patients With Acute Myeloid Leukemia ≤65 Years Unknown status NCT02140242 Phase 3 study part 1 - dose daunorubicin
49 HLA-mismatched Microtransplantation for High Risk Acute Myeloid Leukemia Unknown status NCT01484171 Phase 3 idarubicin
50 Comparison of Ara-c 12 gm/m2 vs 18 gm/m2 Per Cycle for 3 Cycles Each as Consolidation in AML ; An Open Label Randomized Non-inferiority Study Unknown status NCT01615757 Phase 3 Ara-c;Ara-c

Search NIH Clinical Center for Leukemia, Acute Myeloid

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Azacitidine
Cyclophosphamide
Cyclophosphamide
Cytarabine
Daunorubicin
Decitabine
Doxorubicin
Etoposide
Etoposide
etoposide phosphate
Gemtuzumab ozogamicin
Glasdegib
Idarubicin
Idarubicin
Idarubicin Hydrochloride
Midostaurin
Mitoxantrone
Mitoxantrone
Mitoxantrone Hydrochloride
Tioguanine
Topotecan

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Leukemia, Acute Myeloid cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Leukemia, Acute Myeloid:
Hemacord, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
Hematopoietic stem cells for treatment of hematologic malignancies
NiCord, umbilical cord blood-derived stem/progenitor cells for hemotological diseases
Peripheral blood stem cells for treatment of hematologic malignancies
StemEx, umbilical cord blood stem/progenitor cells for hematological diseases
Embryonic/Adult Cultured Cells Related to Leukemia, Acute Myeloid:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD) PMIDs: 9828244
Bone marrow-derived hematopoietic stem cells
Umbilical cord blood-derived stem cells (NiCord) PMIDs: 22198152
Peripheral blood-derived hematopoietic stem cells (family)
Umbilical cord blood stem/progenitor cells (Stemex) PMIDs: 18209724

Cochrane evidence based reviews: leukemia, myeloid, acute

Sources

Genetic Tests for Leukemia, Acute Myeloid

About this section

Genetic tests related to Leukemia, Acute Myeloid:

# Genetic test Affiliating Genes
1 Acute Myeloid Leukemia 29 CBFB CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2 JAK2 KIT KRAS LPP MLF1 MLLT10 NPM1 NSD1 NUP214 PICALM RUNX1 SH3GL1 TERT
Sources

Anatomical Context for Leukemia, Acute Myeloid

About this section

MalaCards organs/tissues related to Leukemia, Acute Myeloid:

41
Myeloid, Bone, Bone Marrow, T Cells, Nk Cells, Testes, Monocytes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Leukemia, Acute Myeloid:
# Tissue Anatomical CompartmentCell Relevance
1 Blood Hematopoietic Bone Marrow Common Myeloid Progenitor Cells Affected by disease
2 Blood Hematopoietic Bone Marrow Hematopoietic Stem Cells Potential therapeutic candidate
Sources

Publications for Leukemia, Acute Myeloid

About this section

Articles related to Leukemia, Acute Myeloid:

(show top 50) (show all 26953)
# Title Authors PMID Year
1
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 38 8 71
21892162 2011
2
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. 38 8 71
19147845 2009
3
Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia. 38 8 71
15806161 2005
4
Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. 9 8 71
15659725 2005
5
Mutation of CEBPA in familial acute myeloid leukemia. 38 8 71
15575056 2004
6
Distinctive microRNA signature of acute myeloid leukemia bearing cytoplasmic mutated nucleophosmin. 38 88 8
18308931 2008
7
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 8 71
16247455 2006
8
Biochemical characterization of a novel KRAS insertion mutation from a human leukemia. 8 71
8955068 1996
9
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 38 71
28941052 2017
10
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. 38 71
27991732 2017
11
Assessment of Minimal Residual Disease in Standard-Risk AML. 38 8
26789727 2016
12
Chemical biology. A small-molecule inhibitor of the aberrant transcription factor CBFβ-SMMHC delays leukemia in mice. 38 8
25678665 2015
13
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. 38 8
23634996 2013
14
HLA-C-dependent prevention of leukemia relapse by donor activating KIR2DS1. 38 8
22931314 2012
15
Differential prognosis impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia. 38 8
21454467 2011
16
DNMT3A mutations in acute myeloid leukemia. 38 71
21067377 2010
17
CEBPA-Associated Familial Acute Myeloid Leukemia (AML) 38 71
20963938 2010
18
IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. 38 8
20368543 2010
19
MicroRNA 29b functions in acute myeloid leukemia. 38 8
19850741 2009
20
Recurring mutations found by sequencing an acute myeloid leukemia genome. 38 8
19657110 2009
21
Mutation in TET2 in myeloid cancers. 38 8
19474426 2009
22
Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. 38 8
18450602 2008
23
The impact of FLT3 internal tandem duplication mutant level, number, size, and interaction with NPM1 mutations in a large cohort of young adult patients with acute myeloid leukemia. 38 8
17957027 2008
24
Abrogation of nuclear receptors Nr4a3 and Nr4a1 leads to development of acute myeloid leukemia. 38 8
17515897 2007
25
Targeting of CD44 eradicates human acute myeloid leukemic stem cells. 38 8
16998484 2006
26
Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2. 38 71
12661007 2003
27
Bilateral orbital myeloid sarcoma as initial sign of acute myeloid leukemia: case report and review of the literature. 38 8
12523908 2003
28
A new and recurrent activating length mutation in exon 20 of the FLT3 gene in acute myeloid leukemia. 38 71
12384447 2002
29
Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. 38 71
11290608 2001
30
Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. 38 71
11242107 2001
31
Cytogenetic and molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases. 38 8
8516290 1993
32
Tobacco smoke exposure and the risk of childhood acute lymphoblastic leukemia and acute myeloid leukemia: A meta-analysis. 38 17
31305478 2019
33
Prediction of acute myeloid leukaemia risk in healthy individuals. 8
29988082 2018
34
BCAT1 restricts αKG levels in AML stem cells leading to IDHmut-like DNA hypermethylation. 8
29144447 2017
35
BET inhibitor resistance emerges from leukaemia stem cells. 8
26367796 2015
36
Transcriptional plasticity promotes primary and acquired resistance to BET inhibition. 8
26367798 2015
37
Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia. 8
25487151 2015
38
Effect of mutation order on myeloproliferative neoplasms. 71
25671252 2015
39
DNA-damage-induced differentiation of leukaemic cells as an anti-cancer barrier. 8
25079327 2014
40
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 71
25043017 2014
41
Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. 8
24522528 2014
42
Leukaemogenesis induced by an activating β-catenin mutation in osteoblasts. 8
24429522 2014
43
Genomic landscapes and clonality of de novo AML. 8
24106950 2013
44
Genomic landscapes and clonality of de novo AML. 8
24106951 2013
45
Acute myeloblastic leukaemias in adult patients: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. 71
23970018 2013
46
Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia. 8
22504184 2012
47
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. 8
22237025 2012
48
NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 71
22138009 2011
49
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 71
21765025 2011
50
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 71
21670465 2011
Sources

Variations for Leukemia, Acute Myeloid

About this section

ClinVar genetic disease variations for Leukemia, Acute Myeloid:

6 (show top 50) (show all 468)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NRAS NM_002524.5(NRAS): c.183A> T (p.Gln61His) single nucleotide variant Pathogenic rs121913255 1:115256528-115256528 1:114713907-114713907
2 DNMT3A NM_022552.4(DNMT3A): c.2645G> T (p.Arg882Leu) single nucleotide variant Pathogenic rs147001633 2:25457242-25457242 2:25234373-25234373
3 DNMT3A NM_022552.4(DNMT3A): c.2644C> G (p.Arg882Gly) single nucleotide variant Pathogenic rs377577594 2:25457243-25457243 2:25234374-25234374
4 DNMT3A NM_022552.4(DNMT3A): c.2644C> A (p.Arg882Ser) single nucleotide variant Pathogenic rs377577594 2:25457243-25457243 2:25234374-25234374
5 IDH1 NM_005896.3(IDH1): c.395G> C (p.Arg132Pro) single nucleotide variant Pathogenic rs121913500 2:209113112-209113112 2:208248388-208248388
6 KIT NM_000222.2(KIT): c.2446_2447delinsAT (p.Asp816Ile) indel Pathogenic rs1057519709 4:55599320-55599321 4:54733154-54733155
7 FLT3 NM_004119.2(FLT3): c.2508C> G (p.Ile836Met) single nucleotide variant Pathogenic rs121913232 13:28592637-28592637 13:28018500-28018500
8 FLT3 NM_004119.2(FLT3): c.2506A> C (p.Ile836Leu) single nucleotide variant Pathogenic rs1057519726 13:28592639-28592639 13:28018502-28018502
9 FLT3 NM_004119.2(FLT3): c.2505T> G (p.Asp835Glu) single nucleotide variant Pathogenic rs121913487 13:28592640-28592640 13:28018503-28018503
10 FLT3 NM_004119.2(FLT3): c.2505T> A (p.Asp835Glu) single nucleotide variant Pathogenic rs121913487 13:28592640-28592640 13:28018503-28018503
11 FLT3 NM_004119.2(FLT3): c.2504A> C (p.Asp835Ala) single nucleotide variant Pathogenic rs121909646 13:28592641-28592641 13:28018504-28018504
12 IDH2 NM_002168.3(IDH2): c.516G> C (p.Arg172Ser) single nucleotide variant Pathogenic rs1057519736 15:90631837-90631837 15:90088605-90088605
13 RUNX1 NM_001754.4(RUNX1): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs1057519748 21:36231783-36231783 21:34859486-34859486
14 TP53 NM_000546.5(TP53): c.537T> G (p.His179Gln) single nucleotide variant Pathogenic rs876660821 17:7578393-7578393 17:7675075-7675075
15 TP53 NM_000546.5(TP53): c.818G> T (p.Arg273Leu) single nucleotide variant Pathogenic rs28934576 17:7577120-7577120 17:7673802-7673802
16 GATA2 NM_032638.4(GATA2): c.1084C> T (p.Arg362Ter) single nucleotide variant Pathogenic rs1553770510 3:128200721-128200721 3:128481878-128481878
17 CEBPA NM_004364.4(CEBPA): c.332_339del (p.Ala111fs) deletion Pathogenic rs1555742213 19:33792982-33792989 19:33302076-33302083
18 CEBPA NM_004364.4(CEBPA): c.119dup (p.Gln41fs) duplication Pathogenic rs1555742295 19:33793202-33793202 19:33302296-33302296
19 ETV6 NM_001987.4(ETV6): c.226G> T (p.Glu76Ter) single nucleotide variant Pathogenic rs121434637 12:11992136-11992136 12:11839202-11839202
20 ETV6 NM_001987.4(ETV6): c.1307_1308insGGG (p.His436delinsGlnGly) insertion Pathogenic rs587776710 12:12043928-12043929 12:11890994-11890995
21 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 17:7577539-7577539 17:7674221-7674221
22 KRAS NM_004985.5(KRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs112445441 12:25398281-25398281 12:25245347-25245347
23 KRAS NM_004985.5(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 12:25398284-25398284 12:25245350-25245350
24 KRAS NM_004985.5(KRAS): c.27_29dup (p.Gly10dup) duplication Pathogenic rs606231202 12:25398290-25398292 12:25245356-25245358
25 KRAS NM_004985.5(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 12:25362838-25362838 12:25209904-25209904
26 HRAS NM_005343.4(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 11:534289-534289 11:534289-534289
27 HRAS NM_005343.4(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 11:534288-534288 11:534288-534288
28 HRAS NM_005343.4(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 11:534289-534289 11:534289-534289
29 NRAS NM_002524.5(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 1:115256529-115256529 1:114713908-114713908
30 NRAS NM_002524.5(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 1:115258744-115258744 1:114716123-114716123
31 NPM1 NM_002520.6(NPM1): c.860_863dup (p.Trp288fs) duplication Pathogenic rs587776806 5:170837544-170837547 5:171410540-171410543
32 NPM1 NM_002520.6(NPM1): c.863_864insCATG (p.Trp288fs) insertion Pathogenic rs1554138188 5:170837547-170837548 5:171410543-171410544
33 NPM1 NM_002520.6(NPM1): c.863_864insCGTG (p.Trp288fs) insertion Pathogenic rs1554138188 5:170837547-170837548 5:171410543-171410544
34 NPM1 NM_002520.6(NPM1): c.863_864insCCTG (p.Trp288fs) insertion Pathogenic rs1554138189 5:170837547-170837548 5:171410543-171410544
35 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 9:5073770-5073770 9:5073770-5073770
36 JAK2 NM_004972.3(JAK2): c.1821G> C (p.Lys607Asn) single nucleotide variant Pathogenic rs121912472 9:5073742-5073742 9:5073742-5073742
37 IDH2 NM_002168.3(IDH2): c.419G> A (p.Arg140Gln) single nucleotide variant Pathogenic rs121913502 15:90631934-90631934 15:90088702-90088702
38 FLT3 NM_004119.2(FLT3): c.2520_2521insGGATCC (p.Asn841_Tyr842insGlySer) insertion Pathogenic rs398122514 13:28592624-28592625 13:28018487-28018488
39 FLT3 NM_004119.2(FLT3): c.2504A> T (p.Asp835Val) single nucleotide variant Pathogenic rs121909646 13:28592641-28592641 13:28018504-28018504
40 FLT3 NM_004119.2(FLT3): c.2503G> C (p.Asp835His) single nucleotide variant Pathogenic rs121913488 13:28592642-28592642 13:28018505-28018505
41 FLT3 NM_004119.2(FLT3): c.2503G> A (p.Asp835Asn) single nucleotide variant Pathogenic rs121913488 13:28592642-28592642 13:28018505-28018505
42 FLT3 NM_004119.2(FLT3): c.2503G> T (p.Asp835Tyr) single nucleotide variant Pathogenic rs121913488 13:28592642-28592642 13:28018505-28018505
43 CEBPA NM_004364.4(CEBPA): c.115_121del (p.Pro39fs) deletion Pathogenic rs587776848 19:33793200-33793206 19:33302294-33302300
44 CEBPA NM_004364.4(CEBPA): c.148G> T (p.Glu50Ter) single nucleotide variant Pathogenic rs121912791 19:33793173-33793173 19:33302267-33302267
45 CEBPA NM_004364.4(CEBPA): c.251A> T (p.His84Leu) single nucleotide variant Pathogenic rs28931590 19:33793070-33793070 19:33302164-33302164
46 CEBPA NM_004364.4(CEBPA): c.935_991dup (p.Gln312_Gln330dup) duplication Pathogenic rs1555741948 19:33792330-33792386 19:33301424-33301480
47 CEBPA NM_004364.4(CEBPA): c.925_951dup (p.Glu309_Leu317dup) duplication Pathogenic rs1555741967 19:33792370-33792396 19:33301464-33301490
48 CEBPA NM_004364.4(CEBPA): c.211_214dup (p.Ala72fs) duplication Pathogenic rs587776849 19:33793107-33793110 19:33302201-33302204
49 CEBPA NM_004364.4(CEBPA): c.68del (p.Pro23fs) deletion Pathogenic rs137852728 19:33793253-33793253 19:33302347-33302347
50 CEBPA NM_004364.4(CEBPA): c.141del (p.Ala48fs) deletion Pathogenic rs137852730 19:33793180-33793180 19:33302274-33302274

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

74
# Symbol AA change Variation ID SNP ID
1 CEBPA p.His84Leu VAR_072677 rs28931590
2 JAK2 p.Lys607Asn VAR_032696 rs121912472
3 JAK2 p.Val617Phe VAR_032697 rs77375493
4 SETBP1 p.Gly870Ser VAR_063809 rs267607040
5 SETBP1 p.Ser854Ala VAR_069848
6 SETBP1 p.Gly870Arg VAR_069854
7 SETBP1 p.Ile871Ser VAR_069856

Copy number variations for Leukemia, Acute Myeloid from CNVD:

7 (show top 50) (show all 491)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13336 1 1 124300000 Insertion Acute myeloid leukemia
2 13759 1 1 28000000 Deletion Acute myeloid leukemia
3 17466 1 142902432 245422360 Duplication Acute myeloid leukemia
4 20826 1 154656757 154656845 Amplification Acute myeloid leukemia
5 26098 1 197094625 197094734 Amplification Acute myeloid leukemia
6 26100 1 197094796 197094905 Amplification Acute myeloid leukemia
7 27148 1 204981000 205049000 Gain or loss Acute myeloid leukemia
8 27263 1 206041820 206041907 Amplification Acute myeloid leukemia
9 27859 1 214500000 224100000 Deletion Acute myeloid leukemia
10 28491 1 222606000 222909000 Gain or loss Acute myeloid leukemia
11 29341 1 230606000 230646000 Gain or loss Acute myeloid leukemia
12 32943 1 40683565 40683656 Amplification Acute myeloid leukemia
13 32944 1 40686494 40686582 Amplification Acute myeloid leukemia
14 35033 1 5913000 7696000 Gain or loss Acute myeloid leukemia
15 35769 1 67074000 69951000 Gain or loss Acute myeloid leukemia
16 36085 1 71305902 71305987 Amplification miR-186 Acute myeloid leukemia
17 38187 10 1 6700000 Insertion IL15RA Acute myeloid leukemia
18 38188 10 1 6700000 Insertion PRKCQ Acute myeloid leukemia
19 38677 10 104186259 104186331 Deletion Acute myeloid leukemia
20 38804 10 105144000 105144148 Deletion Acute myeloid leukemia
21 39144 10 110889374 110889450 Deletion Acute myeloid leukemia
22 39902 10 122017230 122017301 Deletion let-7a-2 Acute myeloid leukemia
23 41668 10 21893278 22027081 Loss MLLT10 Acute myeloid leukemia
24 41990 10 27075530 27189965 Translate SSH3BP1 Acute myeloid leukemia
25 43278 10 46100000 49900000 Copy number GDF10 Acute myeloid leukemia
26 44445 10 57165247 57165335 Deletion Acute myeloid leukemia
27 44874 11 64658609 64658718 Deletion miR-192 Acute myeloid leukemia
28 47681 10 96486000 100815000 Loss Acute myeloid leukemia
29 49592 11 108316750 133951370 Triplication Acute myeloid leukemia
30 50142 11 114500000 121200000 Copy number MLL Acute myeloid leukemia
31 50190 11 115400000 120700000 Insertion DDX6 Acute myeloid leukemia
32 50191 11 115400000 120700000 Insertion ETS1 Acute myeloid leukemia
33 50192 11 115400000 120700000 Insertion FLI1 Acute myeloid leukemia
34 50193 11 115400000 120700000 Insertion MLL Acute myeloid leukemia
35 50261 11 116297361 116448564 Loss Acute myeloid leukemia
36 51468 11 126537000 130235000 Gain Acute myeloid leukemia
37 51512 11 127394408 133951311 Amplification Acute myeloid leukemia
38 52810 11 2016406 2019065 Methylation H19 Acute myeloid leukemia
39 54217 11 39671000 39746000 Loss Acute myeloid leukemia
40 54954 11 48161000 49658000 Gain Acute myeloid leukemia
41 55252 11 50257000 134448000 Gain Acute myeloid leukemia
42 55325 11 51052000 134450000 Gain Acute myeloid leukemia
43 55425 11 52900000 134452384 Deletion Acute myeloid leukemia
44 59078 11 72157700 79025590 Amplification Acute myeloid leukemia
45 59643 11 76781009 79702160 Duplication Acute myeloid leukemia
46 60678 11 89295514 104865304 Triplication Acute myeloid leukemia
47 61480 12 1 14800000 Insertion or del CCND2 Acute myeloid leukemia
48 61481 6 36754436 36763087 Insertion or del CDKN1 Acute myeloid leukemia
49 61482 12 1 14800000 Insertion or del CDKN1B Acute myeloid leukemia
50 61483 12 1 14800000 Insertion or del ETV6 Acute myeloid leukemia
Sources

Expression for Leukemia, Acute Myeloid

About this section
Search GEO for disease gene expression data for Leukemia, Acute Myeloid.
Sources

Pathways for Leukemia, Acute Myeloid

About this section

Pathways related to Leukemia, Acute Myeloid according to KEGG:

37
# Name Kegg Source Accession
1 Acute myeloid leukemia hsa05221
2 Transcriptional misregulation in cancer hsa05202

Pathways related to Leukemia, Acute Myeloid according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Akt Signaling 64
Show member pathways
 13.27 NRAS KRAS KIT JAK2 FLT3 CSF3R
2
Cytokine Signaling in Immune system 66
Show member pathways
 13.2 NUP214 NRAS KRAS KIT JAK2 FLT3
3
PI3K-Akt signaling pathway 37
Show member pathways
 12.64 TERT NRAS KRAS KIT JAK2 FLT3
4
Endometrial cancer 37
Show member pathways
 12.63 RUNX1 NRAS KRAS KIT FLT3 CEBPA
5
NF-kappaB Signaling 4
12.35 RUNX1 KIT JAK2 GATA2 CEBPA
6
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 12.26 NRAS KRAS JAK2 CSF3R
7
CNTF Signaling 64
Show member pathways
 12.16 NRAS KRAS JAK2 FLT3
8
Transcriptional misregulation in cancer 37
12.05 RUNX1 FLT3 ETV6 CEBPA
9
Pathways in cancer 37
12 TERT RUNX1 NRAS KRAS KIT JAK2
10
Tyrosine Kinases / Adaptors 4
11.93 NPM1 KIT JAK2 FLT3
11
Signaling by ERBB4 66
Show member pathways
 11.81 NRAS KRAS JAK2
12
AGE-RAGE signaling pathway in diabetic complications 37
11.77 NRAS KRAS JAK2
13
Hematopoietic cell lineage 37
11.75 KIT FLT3 CSF3R
14
Jak-Stat Signaling Pathway (sino) 67
11.61 NRAS KRAS JAK2 CSF3R
15
C-MYB transcription factor network 1
11.6 NRAS KIT CEBPA
16
Negative regulation of MAPK pathway 66
Show member pathways
 11.5 NRAS KRAS JAK2
17
HIF-1-alpha transcription factor network 1
11.48 TERT NPM1 GATA2
18
VEGF Pathway (Tocris) 61
Show member pathways
 11.38 NRAS KRAS KIT FLT3
19
Transcription_Transcription factor Tubby signaling pathways 22
11.16 NRAS KRAS JAK2
20
Central carbon metabolism in cancer 37
11.1 NRAS KRAS KIT FLT3
21
Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex 1
10.84 FLT3 ETV6 DNMT3A
22
p38MAPK events 66
10.67 NRAS KRAS
Sources

GO Terms for Leukemia, Acute Myeloid

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Cellular components related to Leukemia, Acute Myeloid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.85 TERT RUNX1 NUP214 NSD1 NPM1 MLLT10
2 nucleus GO:0005634 9.8 TERT RUNX1 PICALM NUP214 NSD1 NPM1
3 focal adhesion GO:0005925 9.02 NUP214 NPM1 LPP KRAS JAK2

Biological processes related to Leukemia, Acute Myeloid according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.91 NPM1 KRAS KIT JAK2 FLT3
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.91 RUNX1 NSD1 GATA2 ETV6 DNMT3A CEBPA
3 negative regulation of gene expression GO:0010629 9.78 TERT RUNX1 PICALM GATA2
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 KIT JAK2 FLT3
5 MAPK cascade GO:0000165 9.55 NRAS KRAS KIT JAK2 FLT3
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.54 KIT JAK2 FLT3
7 positive regulation of MAP kinase activity GO:0043406 9.5 KRAS KIT FLT3
8 hematopoietic stem cell proliferation GO:0071425 9.49 RUNX1 ETV6
9 regulation of myeloid cell differentiation GO:0045637 9.46 RUNX1 CSF3R
10 cytokine-mediated signaling pathway GO:0019221 9.43 KRAS KIT JAK2 FLT3 CSF3R CEBPA
11 myeloid progenitor cell differentiation GO:0002318 9.26 KIT FLT3
12 hemopoiesis GO:0030097 9.02 RUNX1 PICALM KIT GATA2 FLT3

Molecular functions related to Leukemia, Acute Myeloid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.65 NSD1 NPM1 MLLT10 GATA2 DNMT3A
2 protein binding GO:0005515 9.6 TERT RUNX1 PICALM NUP214 NSD1 NRAS
3 nucleotide binding GO:0000166 9.55 NRAS KRAS KIT JAK2 FLT3
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 RUNX1 NSD1 GATA2 ETV6 DNMT3A CEBPA
Sources

Sources for Leukemia, Acute Myeloid

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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