Leukemia, Acute Myeloid (AML)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Leukemia, Acute Myeloid

MalaCards integrated aliases for Leukemia, Acute Myeloid:

Name: Leukemia, Acute Myeloid 57 37
Acute Myeloid Leukemia 12 73 20 58 72 36 29 6 42 15 17
Leukemia, Acute Myelogenous 57 72 13 39
Acute Myelogenous Leukemia 12 73 20 58
Aml 57 58 72 3
Leukemia, Acute Myeloid, Susceptibility to 57 29 6
Acute Undifferentiated Leukemia 58 54 70
Acute Myeloblastic Leukemia 12 73 72
Leukemia, Acute Myeloid, Reduced Survival in, Somatic 57 6
Leukemia, Myelocytic, Acute 12 70
Acute Myelocytic Leukemia 73 72
Leukemia, Myeloid, Acute 44 39
Acute Myeloid Leukaemia 12 15
Secondary Aml 58 54
Therapy Related Acute Myeloid Leukemia and Myelodysplastic Syndrome 58
Acute Myeloid Leukaemia with Myelodysplasia-Related Features 58
Acute Myeloid Leukemia, Minimal Differentiation, Fab M0 58
Acute Myeloid Leukemia with Recurrent Genetic Anomaly 58
Acute Myeloid Leukemia with Cebpa Somatic Mutations 58
Acute Myeloid Leukemia with Multilineage Dysplasia 58
Myeloid Leukemia, Acute, M4/m4eo Subtype, Somatic 57
Therapy-Related Aml and Myelodysplastic Syndrome 58
Aml with Myelodysplasia-Related Features 58
Acute Leukemia of Indeterminate Lineage 58
Pure Familial Acute Myeloid Leukemia 58
Acute Leukemia of Ambiguous Lineage 58
Unclassified Acute Myeloid Leukemia 58
Aml with Recurrent Genetic Anomaly 58
Leukemia, Acute Myeloid, Somatic 57
Aml with Cebpa Somatic Mutations 58
Inherited Acute Myeloid Leukemia 58
Secondary Acute Myeloid Leukemia 58
Acute Non-Lymphoblastic Leukemia 72
Acute Myeloid Leukemia, Somatic 57
Aml with Multilineage Dysplasia 58
Mixed Phenotype Acute Leukemia 58
Acute Non-Lymphocytic Leukemia 72
Acute Myeloblastic Leukaemia 12
Aml - Acute Myeloid Leukemia 12
Mixed Lineage Acute Leukemia 58
Acute Myelogenous Leukaemia 12
Acute Biphenotypic Leukemia 70
Hybrid Acute Leukemia 58
Pure Familial Aml 58
Unclassified Aml 58
Inherited Aml 58
Familial Aml 58
Mpal 58


Orphanet epidemiological data:

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;


57 (Updated 05-Apr-2021)
somatic mutation
autosomal dominant

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


leukemia, acute myeloid:
Inheritance autosomal dominant inheritance somatic mutation


Orphanet: 58  
Rare haematological diseases

External Ids:

Disease Ontology 12 DOID:9119
OMIM® 57 601626
KEGG 36 H00003
ICD9CM 34 205.0
MeSH 44 D015470
NCIt 50 C3171
SNOMED-CT 67 91861009
MESH via Orphanet 45 D015456 D015470
ICD10 via Orphanet 33 C92.0 C92.8 C95.0
UMLS via Orphanet 71 C0023464 C0023467 C0280141 more
UMLS 70 C0023464 C0023467 C0280141

Summaries for Leukemia, Acute Myeloid

MedlinePlus : 42 What is leukemia? Leukemia is a term for cancers of the blood cells. Leukemia starts in blood-forming tissues such as the bone marrow. Your bone marrow makes the cells which will develop into white blood cells, red blood cells, and platelets. Each type of cell has a different job: White blood cells help your body fight infection Red blood cells deliver oxygen from your lungs to your tissues and organs Platelets help form clots to stop bleeding When you have leukemia, your bone marrow makes large numbers of abnormal cells. This problem most often happens with white blood cells. These abnormal cells build up in your bone marrow and blood. They crowd out the healthy blood cells and make it hard for your cells and blood to do their work. What is acute myeloid leukemia (AML)? Acute myeloid leukemia (AML) is a type of acute leukemia. "Acute" means that the leukemia usually gets worse quickly if it's not treated. In AML, the bone marrow makes abnormal myeloblasts (a type of white blood cell), red blood cells, or platelets. When the abnormal cells crowd out the healthy cells, it can lead to infection, anemia, and easy bleeding. The abnormal cells can also spread outside the blood to other parts of the body. There are several different subtypes of AML. The subtypes are based on how developed the cancer cells are when you get your diagnosis and how different they are from normal cells. What causes acute myeloid leukemia (AML)? AML happens when there are changes in the genetic material (DNA) in bone marrow cells. The cause of these genetic changes is unknown. However, there are certain factors that raise your risk of AML. Who is at risk for acute myeloid leukemia (AML)? The factors that raise your risk of AML include Being male Smoking, especially after age 60 Having had chemotherapy or radiation therapy Treatment for acute lymphoblastic leukemia (ALL) as a child Exposure to the chemical benzene A history of another blood disorder such as myelodysplastic syndrome What are the symptoms of acute myeloid leukemia (AML)? The signs and symptoms of AML include Fever Shortness of breath Easy bruising or bleeding Petechiae, which are tiny red dots under the skin. They are caused by bleeding. Weakness or feeling tired Weight loss or loss of appetite Bone or joint pain, if the abnormal cells build up near or inside the bones How is acute myeloid leukemia (AML) diagnosed? Your health care provider may use many tools to diagnose AML and figure out which subtype you have: A physical exam A medical history Blood tests, such as a complete blood count (CBC) and blood smear Bone marrow tests. There are two main types - bone marrow aspiration and bone marrow biopsy. Both tests involve removing a sample of bone marrow and bone. The samples are sent to a lab for testing. Genetic tests to look for gene and chromosome changes If you are diagnosed with AML, you may have additional tests to see whether the cancer has spread. These include imaging tests and a lumbar puncture, which is a procedure to collect and test cerebrospinal fluid (CSF). What are the treatments for acute myeloid leukemia (AML)? Treatments for AML include Chemotherapy Radiation therapy Chemotherapy with stem cell transplant Other anticancer medicines Which treatment you get often depends on which subtype of AML you have. Treatment is usually done in two phases: The goal of the first phase is to kill the leukemia cells in the blood and bone marrow. This puts the leukemia into remission. Remission means that the signs and symptoms of cancer are reduced or have disappeared. The second phase is known as post-remission therapy. Its goal is to prevent a relapse (return) of the cancer. It involves killing any remaining leukemia cells that may not be active but could begin to regrow. NIH: National Cancer Institute

MalaCards based summary : Leukemia, Acute Myeloid, also known as acute myeloid leukemia, is related to leukemia and acute megakaryocytic leukemia, and has symptoms including angina pectoris, chest pain and edema. 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 Nicotine and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include Blood, and related phenotypes are acute myeloid leukemia and Decreased viability

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.

GARD : 20 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 : 36 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 : 72 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 : 73 Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid... more...

More information from OMIM: 601626

Related Diseases for Leukemia, Acute Myeloid

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) Acute Myeloid Leukemia with T(9;22)(q34.1;q11.2)

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

(show top 50) (show all 1359)
# Related Disease Score Top Affiliating Genes
1 leukemia 34.4 TP53 TERT SH3GL1 RUNX1 PICALM NPM1
2 acute megakaryocytic leukemia 33.8 TP53 RUNX1 NPM1 MLLT10 KIT JAK2
3 core binding factor acute myeloid leukemia 33.8 RUNX1 KRAS KIT JAK2 FLT3 CEBPA
4 cytogenetically normal acute myeloid leukemia 33.5 NPM1 IDH2 FLT3 CEBPA
5 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 33.3 RUNX1 KIT FLT3 ETV6
6 myeloid leukemia 33.3 TP53 TERT SH3GL1 RUNX1 PICALM NUP214
7 mixed phenotype acute leukemia with t 33.3 RUNX1 DNMT3A
8 acute leukemia 33.2 RUNX1 NPM1 MLLT10 KRAS KIT JAK2
9 cebpa-associated familial acute myeloid leukemia 33.0 TERT SH3GL1 RUNX1 PICALM NUP214 NPM1
10 acute myeloblastic leukemia without maturation 32.8 NPM1 FLT3
11 acute myeloid leukemia with t(8;21)(q22;q22) translocation 32.7 RUNX1 KIT FLT3 CEBPA
12 diamond-blackfan anemia 32.7 TP53 TERT NPM1 JAK2 GATA2
13 thrombocytopenia 32.6 TERT RUNX1 NPM1 KRAS KIT JAK2
14 mixed phenotype acute leukemia 32.6 RUNX1 FLT3 DNMT3A
15 etv6 thrombocytopenia and predisposition to leukemia 32.5 TERT SH3GL1 RUNX1 PICALM NUP214 NPM1
16 childhood leukemia 32.5 TP53 RUNX1 ETV6
17 childhood acute myeloid leukemia 32.5 NPM1 KIT IDH2 FLT3 DNMT3A
18 shwachman-diamond syndrome 1 32.4 TP53 TERT GATA2
19 chronic myelomonocytic leukemia 32.4 TP53 RUNX1 NPM1 KRAS KIT JAK2
20 myelofibrosis 32.4 TP53 RUNX1 NPM1 KIT JAK2 IDH2
21 myelodysplastic syndrome 32.2 TP53 TERT RUNX1 NUP214 NPM1 KRAS
22 leukemia, acute lymphoblastic 32.2 TP53 RUNX1 PICALM NUP214 MLLT10 KRAS
23 myeloproliferative neoplasm 32.1 RUNX1 KIT JAK2 FLT3 ETV6 DNMT3A
24 bone marrow cancer 32.1 TP53 NPM1 KIT JAK2 IDH2 GATA2
25 myelodysplastic/myeloproliferative neoplasm 32.0 KIT JAK2 FLT3 ETV6 DNMT3A
26 myeloma, multiple 32.0 TP53 KRAS KIT JAK2 IDH2 FLT3
27 wilms tumor 1 32.0 TP53 TERT NPM1 KRAS FLT3 CEBPA
28 hematologic cancer 31.9 RUNX1 PICALM NPM1 MLLT10 KIT JAK2
29 sarcoma 31.9 TP53 NPM1 KRAS KIT JAK2
30 monocytic leukemia 31.9 RUNX1 MLLT10 FLT3
31 blood platelet disease 31.9 TP53 RUNX1 KIT JAK2 FLT3
32 pancytopenia 31.8 TP53 TERT RUNX1 KIT
33 gastrointestinal stromal tumor 31.8 TP53 KRAS KIT JAK2 FLT3
34 atypical chronic myeloid leukemia 31.8 RUNX1 JAK2 FLT3 ETV6
35 myeloid sarcoma 31.8 NPM1 KIT FLT3
36 juvenile myelomonocytic leukemia 31.7 TP53 RUNX1 KRAS JAK2 FLT3 ETV6
37 leukemia, chronic myeloid 31.6 TP53 RUNX1 KRAS KIT JAK2 GATA2
38 acute promyelocytic leukemia 31.6 TP53 TERT RUNX1 NPM1 KRAS FLT3
39 sm-ahnmd 31.5 KIT JAK2 CHIC2
40 plasma cell neoplasm 31.5 TP53 KRAS IDH2 FLT3 DNMT3A
41 dyskeratosis congenita 31.5 TP53 TERT NPM1 GATA2
42 polycythemia vera 31.5 TP53 KIT JAK2 IDH2 ETV6 DNMT3A
43 lymphoma, non-hodgkin, familial 31.5 TP53 NPM1 JAK2 FLT3 ETV6
44 essential thrombocythemia 31.4 TP53 TERT KRAS KIT JAK2 IDH2
45 aggressive systemic mastocytosis 31.4 RUNX1 KIT FLT3
46 precursor t-cell acute lymphoblastic leukemia 31.4 PICALM NUP214 MLLT10 FLT3 ETV6
47 childhood acute lymphocytic leukemia 31.4 RUNX1 KRAS FLT3 ETV6
48 hemangioma 31.4 TP53 KRAS KIT IDH2
49 fibrosarcoma 31.4 TP53 KIT JAK2 ETV6
50 aplastic anemia 31.3 TP53 TERT RUNX1 GATA2 FLT3

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

Diseases related to Leukemia, Acute Myeloid

Symptoms & Phenotypes for Leukemia, Acute Myeloid

Human phenotypes related to Leukemia, Acute Myeloid:

# Description HPO Frequency HPO Source Accession
1 acute myeloid leukemia 31 HP:0004808

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
acute myelogenous leukemia (aml)

Clinical features from OMIM®:

601626 (Updated 05-Apr-2021)

UMLS symptoms related to Leukemia, Acute Myeloid:

angina pectoris; chest pain; edema

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.1 KRAS
2 Decreased viability GR00055-A-2 10.1 KRAS
3 Decreased viability GR00055-A-3 10.1 KRAS
4 Decreased viability GR00106-A-0 10.1 KRAS
5 Decreased viability GR00173-A 10.1 FLT3
6 Decreased viability GR00221-A-1 10.1 FLT3 KIT KRAS
7 Decreased viability GR00221-A-2 10.1 JAK2 KRAS
8 Decreased viability GR00221-A-4 10.1 FLT3
9 Decreased viability GR00240-S-1 10.1 PICALM TP53
10 Decreased viability GR00249-S 10.1 RUNX1 TERT TP53
11 Decreased viability GR00301-A 10.1 KIT KRAS
12 Decreased viability GR00381-A-1 10.1 KRAS
13 Decreased viability GR00386-A-1 10.1 CEBPA CHIC2 GATA2 LPP TERT TGM6
14 Decreased viability GR00402-S-2 10.1 DNMT3A RUNX1 TP53
15 Reduced mammosphere formation GR00396-S 9.17 CEBPA DNMT3A ETV6 IDH2 KRAS NUP214

MGI Mouse Phenotypes related to Leukemia, Acute Myeloid:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.46 CEBPA DNMT3A ETV6 FLT3 GATA2 JAK2
2 growth/size/body region MP:0005378 10.43 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2
3 hematopoietic system MP:0005397 10.36 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2
4 mortality/aging MP:0010768 10.36 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2
5 cardiovascular system MP:0005385 10.35 CEBPA CHIC2 ETV6 GATA2 IDH2 JAK2
6 homeostasis/metabolism MP:0005376 10.34 CEBPA DNMT3A ETV6 FLT3 GATA2 JAK2
7 embryo MP:0005380 10.33 DNMT3A ETV6 GATA2 JAK2 KIT KRAS
8 endocrine/exocrine gland MP:0005379 10.31 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2
9 immune system MP:0005387 10.29 CEBPA CHIC2 ETV6 FLT3 JAK2 KIT
10 liver/biliary system MP:0005370 10.17 CEBPA ETV6 GATA2 JAK2 KIT KRAS
11 integument MP:0010771 10.16 CEBPA CHIC2 ETV6 JAK2 KIT KRAS
12 neoplasm MP:0002006 10.11 CEBPA ETV6 FLT3 IDH2 JAK2 KIT
13 normal MP:0002873 9.96 CEBPA ETV6 GATA2 JAK2 KIT KRAS
14 no phenotypic analysis MP:0003012 9.87 CEBPA ETV6 FLT3 KIT KRAS RUNX1
15 reproductive system MP:0005389 9.85 CEBPA CHIC2 DNMT3A GATA2 JAK2 KIT
16 respiratory system MP:0005388 9.56 CEBPA JAK2 KIT KRAS RUNX1 SH3GL1
17 skeleton MP:0005390 9.32 DNMT3A FLT3 IDH2 JAK2 KIT KRAS

Drugs & Therapeutics for Leukemia, Acute Myeloid

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

(show top 50) (show all 563)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Nicotine Approved Phase 4 54-11-5 942 89594
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
Amsacrine Approved, Investigational Phase 4 51264-14-3 2179
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
Lenalidomide Approved Phase 4 191732-72-6 216326
10 interferons Phase 4
11 Interferon-alpha Phase 4
12 Neurotransmitter Agents Phase 4
13 Antifungal Agents Phase 4
14 Cytochrome P-450 Enzyme Inhibitors Phase 4
15 Antiparasitic Agents Phase 4
16 Antiprotozoal Agents Phase 4
Histamine Phosphate Phase 4 51-74-1 65513
18 Gemtuzumab Phase 4
19 Angiogenesis Inhibitors Phase 4
Cefepime Approved, Investigational Phase 3 88040-23-7 5479537
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
Vindesine Approved, Investigational Phase 3 59917-39-4, 53643-48-4 40839
Lorazepam Approved Phase 3 846-49-1 3958
Dalteparin Approved Phase 3 9005-49-6
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
Ofloxacin Approved Phase 3 82419-36-1 4583
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
Aldesleukin Approved Phase 3 85898-30-2, 110942-02-4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
Adenosine Approved, Investigational Phase 3 58-61-7 60961
Pentostatin Approved, Investigational Phase 3 53910-25-1 439693 40926
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
Carvedilol Approved, Investigational Phase 3 72956-09-3 2585
Enalaprilat Approved Phase 3 76420-72-9 6917719
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
Lactitol Approved, Investigational Phase 3 585-86-4 157355
Mercaptopurine Approved Phase 3 50-44-2 667490
Darbepoetin alfa Approved, Investigational Phase 3 209810-58-2, 11096-26-7
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
Palivizumab Approved, Investigational Phase 3 188039-54-5
Acyclovir Approved Phase 3 59277-89-3 2022
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
Lenograstim Approved, Investigational Phase 3 135968-09-1
Morphine Approved, Investigational Phase 3 57-27-2 5288826
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
Heparin Approved, Investigational Phase 3 9005-49-6 772 9812414
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754

Interventional clinical trials:

(show top 50) (show all 2534)
# Name Status NCT ID Phase Drugs
1 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4 decitabine
2 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
3 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
4 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
5 Early Tapering of Immunosuppressive Agents After Allogeneic Hematopoietic Stem Cell Transplantation Can Improve the Survival of Patients With Advanced Acute Myeloid Leukemia. Unknown status NCT03150134 Phase 4 Cyclosporine;routine reduction of immunosuppressive drugs(cyclosporine)
6 Fludarabine and Cytarabine Versus High-dose Cytarabine in Consolidation Treatment of Core-bing Factor Acute Myeloid Leukemia: A Prospective, Multicenter, Randomized Study Unknown status NCT02926586 Phase 4 Fludarabine;Cytarabine
7 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
8 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 Unknown status NCT02933333 Phase 4
9 Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT Unknown status NCT02027064 Phase 4 Interferon-alpha
10 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
11 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
12 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
13 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
14 PETHEMA-LAM99:Treatment of the Acute Myeloblastic Leukaemia in Patients Over 65 Years Completed NCT00464217 Phase 4 ARA-C;Idarubicin;Leucomax
15 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
16 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
17 Incidence of Respiratory Viral Infections During AML Induction and Consolidation Chemotherapy Completed NCT01819792 Phase 4
18 FLAT: Fludarabine, Cytarabine and Topotecan in Treating Patients With Refractory or Relapsed Acute Myeloid Leukemia Completed NCT00488709 Phase 4 Topotecan;Fludarabine;Cytarabine
19 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
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 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
22 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
23 Incidence of Invasive Fungal Disease in Patients Receiving Immunosuppressive Therapy, Intensive Chemotherapy or Reduced Intensity Haematopoietic Stem Cell Transplantation on Posaconazole Prophylaxis Completed NCT02875743 Phase 4 Posaconazole
24 The Feasibility of Safely Managing Patients Receiving Induction With Liposomal Daunorubicin and Cytarabine (CPX-351) for Acute Myeloid Leukemia (AML) in an Outpatient Environment Recruiting NCT03988205 Phase 4 CPX-351
25 The Efficacy and Safety of Azacytidine Combined With HAG Regimen Versus Azacytidine for Elderly Patients With Newly Diagnosed Myeloid Malignancy: a Prospective, Randomized Controlled Trial Recruiting NCT03873311 Phase 4 Azacytidine, HAG Regimen;Azacytidine
26 Evaluation of Antibody Response to High-Dose Seasonal Influenza Vaccination in Patients With Myeloid Malignancy Receiving Chemotherapy Recruiting NCT04484532 Phase 4
28 Study 200170: A Rollover Study to Provide Continued Treatment With Eltrombopag Active, not recruiting NCT01957176 Phase 4 ELT
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 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
31 Multicenter, Double-Blind, Randomized Study to Compare the Safety and Efficacy of Levofloxacin With That of Cefepime in the Treatment of Fever and Neutropenia - Phase IIIB Unknown status NCT00020865 Phase 3 cefepime hydrochloride;levofloxacin
32 A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients Unknown status NCT01316744 Phase 3 ketamine hydrochloride
33 Recombinant Human Thrombopoietin (rhTPO) in Management of Chemotherapy-induced Thrombocytopenia in Acute Myelocytic Leukemia: a Multicenter Clinical Trial Unknown status NCT02244658 Phase 3 rhTPO
34 Randomised Comparison of OSHO Induction vs. the German AML Intergroup Standard, Randomised Comparison of AraC/Mtx vs. Flu/AraC/Mtx in Pts Without CR After One Induction Cycle and Randomized Comparison of One vs. Two Consolidation Therapies. Unknown status NCT01414231 Phase 3 Cytarabine
35 Randomised Prospective Comparison of the nonmyélo-Ablative Allograft and the Traditional Allograft in Acute Myeloid Leukaemia in Complete Remission of the Adult Unknown status NCT00224614 Phase 3
36 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
37 ACUTE MYELOID LEUKAEMIA TRIAL 12 Unknown status NCT00002658 Phase 3 amsacrine;cyclophosphamide;cytarabine;daunorubicin hydrochloride;etoposide;idarubicin;mitoxantrone hydrochloride;thioguanine;tretinoin
38 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
39 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
40 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
41 The Clinical Research About the Therapeutic Effect and Safety of 10 Days Regimen With Single-agent of Decitabine for Elderly AML Patients Unknown status NCT01633099 Phase 3 Decitabine
42 A PALG Prospective Multicenter Clinical Trial to Compare the Efficacy of Two Standard Induction Therapies (DA-90 vs DAC) and Two Standard Salvage Regimens (FLAG-IDA vs CLAG-M) in AML Patients ≤ 60 Years Old Unknown status NCT03257241 Phase 3 A arm (DA-90);B arm (DAC);A arm (CLAG-M);B arm (FLAG-IDA)
43 The Value of Dexamethasone Versus Prednisolone During Induction and Maintenance Therapy of Prolonged Versus Conventional Duration of L-Asparaginase Therapy During Consolidation and Late Intensification, and of Corticosteroid + VCR Pulses During Maintenance in Acute Lymphoblastic Leukemia and Lymphoblastic Non-Hodgkin Lymphoma of Childhood Unknown status NCT00003728 Phase 3 asparaginase;cyclophosphamide;cytarabine;daunorubicin hydrochloride;dexamethasone;doxorubicin hydrochloride;etoposide;leucovorin calcium;mercaptopurine;methotrexate;methylprednisolone;mitoxantrone hydrochloride;prednisolone;therapeutic hydrocortisone;thioguanine;vincristine sulfate;vindesine
44 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
45 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
46 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
47 Protocol for the Treatment of Adults Aged </= 60 Years With De Novo Acute Myeloblastic Leukaemia or Secondary AML or RAEB-T (AML 01/99 Trial) Unknown status NCT00209833 Phase 2, Phase 3 Cytarabine;Idarubicin;Etoposide;Fludarabine;G-CSF;Daunorubicine
48 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
49 A Prospective Randomized Comparison of Idarubicin and High-dose Daunorubicin in Combination With Cytarabine in the Induction Chemotherapy for Acute Myeloid Leukemia Unknown status NCT01145846 Phase 3 Cytarabine plus Daunorubicin [Arm II (AD regimen)]
50 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)

Search NIH Clinical Center for Leukemia, Acute Myeloid

Inferred drug relations via UMLS 70 / NDF-RT 51 :

etoposide phosphate
Idarubicin Hydrochloride
Mitoxantrone Hydrochloride

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.

Cochrane evidence based reviews: leukemia, myeloid, acute

Genetic Tests for Leukemia, Acute Myeloid

Genetic tests related to Leukemia, Acute Myeloid:

# Genetic test Affiliating Genes
2 Leukemia, Acute Myeloid, Susceptibility to 29

Anatomical Context for Leukemia, Acute Myeloid

MalaCards organs/tissues related to Leukemia, Acute Myeloid:

Myeloid, Bone Marrow, Bone, T Cells, Breast, Nk Cells, Endothelial
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

Publications for Leukemia, Acute Myeloid

Articles related to Leukemia, Acute Myeloid:

(show top 50) (show all 30126)
# Title Authors PMID Year
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. 57 6 61
23634996 2013
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 57 6 61
21892162 2011
Recurring mutations found by sequencing an acute myeloid leukemia genome. 61 6 57
19657110 2009
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. 57 6 61
19147845 2009
Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia. 61 57 6
15806161 2005
Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. 6 57 54
15659725 2005
Mutation of CEBPA in familial acute myeloid leukemia. 61 57 6
15575056 2004
Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia. 57 6
22504184 2012
Distinctive microRNA signature of acute myeloid leukemia bearing cytoplasmic mutated nucleophosmin. 57 61 47
18308931 2008
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 6 57
16247455 2006
Biochemical characterization of a novel KRAS insertion mutation from a human leukemia. 57 6
8955068 1996
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 6 54 61
19357396 2009
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. 6 61
32098966 2020
Gilteritinib or Chemotherapy for Relapsed or Refractory FLT3-Mutated AML. 61 57
31665578 2019
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 6 61
28941052 2017
Index case of acute myeloid leukemia in a family harboring a novel CEBPA germ line mutation. 61 6
29296967 2017
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. 61 6
27991732 2017
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia. 6 61
27133828 2016
Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family. 6 61
26721895 2016
Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. 61 6
26944477 2016
Assessment of Minimal Residual Disease in Standard-Risk AML. 57 61
26789727 2016
Disease evolution and outcomes in familial AML with germline CEBPA mutations. 6 61
26162409 2015
Chemical biology. A small-molecule inhibitor of the aberrant transcription factor CBFβ-SMMHC delays leukemia in mice. 57 61
25678665 2015
Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients. 61 6
24487413 2014
WT1 overexpression affecting clinical outcome in non-hodgkin lymphomas and adult acute lymphoblastic leukemia. 6 61
24374862 2014
Minimal residual disease monitoring in t(8;21) acute myeloid leukemia based on RUNX1-RUNX1T1 fusion quantification on genomic DNA. 61 6
24616160 2014
Reversal of acquired drug resistance in FLT3-mutated acute myeloid leukemia cells via distinct drug combination strategies. 6 61
24619500 2014
The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers. 6 61
24656771 2014
WT1 vaccination in acute myeloid leukemia: new methods of implementing adoptive immunotherapy. 6 61
24521058 2014
Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial. 61 6
24659740 2014
RUNX1 mutation associated with clonal evolution in relapsed pediatric acute myeloid leukemia with t(16;21)(p11;q22). 61 6
24374719 2014
Haploinsufficiency of del(5q) genes, Egr1 and Apc, cooperate with Tp53 loss to induce acute myeloid leukemia in mice. 61 6
24381225 2014
Prognostic significance of TP53 mutations and single nucleotide polymorphisms in acute myeloid leukemia: a case series and literature review. 6 61
24641375 2014
Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EBP1 in PVTL-1 cell line newly established from acute myeloid leukemia transformed from polycythemia vera. 61 6
24404189 2014
Overexpression of Wilms tumor 1 gene as a negative prognostic indicator in acute myeloid leukemia. 6 61
24667279 2014
Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients. 61 6
24606448 2014
Crenolanib is active against models of drug-resistant FLT3-ITD-positive acute myeloid leukemia. 61 6
24046014 2013
Hidden mastocytosis in acute myeloid leukemia with t(8;21)(q22;q22). 6 61
24045550 2013
Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. 6 61
23949315 2013
The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia. 6 61
23783394 2013
Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia. 61 6
23878140 2013
[Mutation of isocitrate dehydrogenase 2 (IDH2) gene in Chinese AML patients and its clinical significance]. 61 6
23815907 2013
SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia. 6 61
23395771 2013
Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD. 6 61
23430109 2013
Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia. 61 6
23321257 2013
Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG). 6 61
23115274 2013
The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia. 61 6
23714533 2013
Mutational landscape of AML with normal cytogenetics: biological and clinical implications. 6 61
23261068 2013
Potential application of IDH1 and IDH2 mutations as prognostic indicators in non-promyelocytic acute myeloid leukemia: a meta-analysis. 61 6
22616558 2012
HLA-C-dependent prevention of leukemia relapse by donor activating KIR2DS1. 57 61
22931314 2012

Variations for Leukemia, Acute Myeloid

ClinVar genetic disease variations for Leukemia, Acute Myeloid:

6 (show top 50) (show all 658)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA2 NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) SNV Pathogenic 435281 rs1553770510 GRCh37: 3:128200721-128200721
GRCh38: 3:128481878-128481878
2 NPM1 NM_002520.6(NPM1):c.860_863dupTCTG Duplication Pathogenic 13998 rs587776806 GRCh37: 5:170837543-170837544
GRCh38: 5:171410539-171410540
3 NPM1 NM_002520.6(NPM1):c.863_864insCATG (p.Trp288fs) Insertion Pathogenic 13999 rs1554138188 GRCh37: 5:170837545-170837546
GRCh38: 5:171410541-171410542
4 NPM1 NM_002520.6(NPM1):c.863_864insCGTG (p.Trp288fs) Insertion Pathogenic 14000 rs1554138188 GRCh37: 5:170837545-170837546
GRCh38: 5:171410541-171410542
5 NPM1 NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288fs) Insertion Pathogenic 14001 rs1554138189 GRCh37: 5:170837544-170837545
GRCh38: 5:171410540-171410541
6 JAK2 , INSL6 NM_004972.3(JAK2):c.1821G>C (p.Lys607Asn) SNV Pathogenic 14663 rs121912472 GRCh37: 9:5073742-5073742
GRCh38: 9:5073742-5073742
7 CEBPA NM_001285829.1(CEBPA):c.-243_-237del Deletion Pathogenic 17566 rs587776848 GRCh37: 19:33793200-33793206
GRCh38: 19:33302294-33302300
8 CEBPA NM_001285829.1(CEBPA):c.-210G>T SNV Pathogenic 17567 rs121912791 GRCh37: 19:33793173-33793173
GRCh38: 19:33302267-33302267
9 CEBPA NM_001285829.1(CEBPA):c.-107A>T SNV Pathogenic 17568 rs28931590 GRCh37: 19:33793070-33793070
GRCh38: 19:33302164-33302164
10 CEBPA NM_004364.4(CEBPA):c.935_991dup (p.Gln312_Gln330dup) Duplication Pathogenic 17569 rs1555741948 GRCh37: 19:33792329-33792330
GRCh38: 19:33301423-33301424
11 CEBPA NM_004364.4(CEBPA):c.925_951dup (p.Glu309_Leu317dup) Duplication Pathogenic 17570 rs1555741967 GRCh37: 19:33792369-33792370
GRCh38: 19:33301463-33301464
12 CEBPA NM_001285829.1(CEBPA):c.-147_-144dup Duplication Pathogenic 17571 rs587776849 GRCh37: 19:33793106-33793107
GRCh38: 19:33302200-33302201
13 CEBPA NM_001285829.1(CEBPA):c.-290del Deletion Pathogenic 17572 rs137852728 GRCh37: 19:33793253-33793253
GRCh38: 19:33302347-33302347
14 CEBPA NM_001285829.1(CEBPA):c.-217del Deletion Pathogenic 21396 rs137852730 GRCh37: 19:33793180-33793180
GRCh38: 19:33302274-33302274
15 CEBPA NM_004364.4(CEBPA):c.217_218insC (p.Phe73fs) Insertion Pathogenic 21398 rs137852733 GRCh37: 19:33793103-33793104
GRCh38: 19:33302197-33302198
16 CEBPA NM_004364.4(CEBPA):c.318_319dupTG (p.Asp107Valfs*54) Duplication Pathogenic 21399 rs137852732 GRCh37: 19:33793001-33793002
GRCh38: 19:33302095-33302096
17 TGM6 NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) SNV Pathogenic 31085 rs387907097 GRCh37: 20:2398091-2398091
GRCh38: 20:2417445-2417445
18 DNMT3A NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly) SNV Pathogenic 375883 rs377577594 GRCh37: 2:25457243-25457243
GRCh38: 2:25234374-25234374
19 DNMT3A NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser) SNV Pathogenic 375884 rs377577594 GRCh37: 2:25457243-25457243
GRCh38: 2:25234374-25234374
20 DNMT3A NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu) SNV Pathogenic 375879 rs147001633 GRCh37: 2:25457242-25457242
GRCh38: 2:25234373-25234373
21 DDX41 NM_016222.4(DDX41):c.712C>A (p.Pro238Thr) SNV Pathogenic 403734 rs376093707 GRCh37: 5:176942003-176942003
GRCh38: 5:177515002-177515002
22 CEBPA NM_004364.5(CEBPA):c.332_339del Deletion Pathogenic 434688 rs1555742213 GRCh37: 19:33792982-33792989
GRCh38: 19:33302076-33302083
23 GATA2 NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) SNV Pathogenic 29709 rs387906629 GRCh37: 3:128200113-128200113
GRCh38: 3:128481270-128481270
24 CEBPA NM_004364.4(CEBPA):c.119dup (p.Gln41fs) Duplication Pathogenic 434686 rs1555742295 GRCh37: 19:33793201-33793202
GRCh38: 19:33302295-33302296
25 DNAJC21 NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) SNV Pathogenic 598950 rs771063992 GRCh37: 5:34937536-34937536
GRCh38: 5:34937431-34937431
26 NSD1 NM_022455.4(NSD1):c.1854del (p.Lys618_Val619insTer) Deletion Pathogenic 620071 rs1562206791 GRCh37: 5:176637251-176637251
GRCh38: 5:177210250-177210250
27 NPM1 NM_199185.3(NPM1):c.782_788delinsCCCTGGCTAGG (p.Trp261fs) Indel Pathogenic 632551 rs1561878500 GRCh37: 5:170837553-170837559
GRCh38: 5:171410549-171410555
28 NSD1 NM_022455.4(NSD1):c.5965C>T (p.Gln1989Ter) SNV Pathogenic 159391 rs587784170 GRCh37: 5:176709538-176709538
GRCh38: 5:177282537-177282537
29 CEBPA NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter) SNV Pathogenic 850564 GRCh37: 19:33793153-33793153
GRCh38: 19:33302247-33302247
30 TERT NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) SNV Pathogenic 916675 GRCh37: 5:1280332-1280332
GRCh38: 5:1280217-1280217
31 CEBPA NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) SNV Pathogenic 938430 GRCh37: 19:33792997-33792997
GRCh38: 19:33302091-33302091
32 KRAS NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) SNV Pathogenic 12590 rs104894366 GRCh37: 12:25398218-25398218
GRCh38: 12:25245284-25245284
33 DDX41 NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs) Indel Pathogenic 978203 GRCh37: 5:176941996-176941996
GRCh38: 5:177514995-177514995
34 CEBPA NM_004364.5(CEBPA):c.206del (p.Asp69fs) Deletion Pathogenic 965859 GRCh37: 19:33793115-33793115
GRCh38: 19:33302209-33302209
35 RTEL1-TNFRSF6B , RTEL1 NM_032957.4(RTEL1):c.1207+1G>A SNV Pathogenic 436599 rs1555903332 GRCh37: 20:62311300-62311300
GRCh38: 20:63679947-63679947
36 ETV6 NM_001987.4(ETV6):c.226G>T (p.Glu76Ter) SNV Pathogenic 8984 rs121434637 GRCh37: 12:11992136-11992136
GRCh38: 12:11839202-11839202
37 ETV6 NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) Insertion Pathogenic 8985 rs587776710 GRCh37: 12:12043928-12043929
GRCh38: 12:11890994-11890995
38 KIT NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) SNV Pathogenic 13860 rs121913506 GRCh37: 4:55599320-55599320
GRCh38: 4:54733154-54733154
39 FLT3 FLT3, INTERNAL TANDEM DUP Duplication Pathogenic 16270 GRCh37:
40 FLT3 NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Asn841_Tyr842insGlySer) Insertion Pathogenic 16271 rs398122514 GRCh37: 13:28592624-28592625
GRCh38: 13:28018487-28018488
41 FLT3 NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) SNV Pathogenic 16272 rs121909646 GRCh37: 13:28592641-28592641
GRCh38: 13:28018504-28018504
42 FLT3 NM_004119.3(FLT3):c.2503G>C (p.Asp835His) SNV Pathogenic 16273 rs121913488 GRCh37: 13:28592642-28592642
GRCh38: 13:28018505-28018505
43 FLT3 NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn) SNV Pathogenic 16274 rs121913488 GRCh37: 13:28592642-28592642
GRCh38: 13:28018505-28018505
44 FLT3 NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) SNV Pathogenic 16276 rs121913488 GRCh37: 13:28592642-28592642
GRCh38: 13:28018505-28018505
45 IDH2 NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) SNV Pathogenic 14716 rs121913502 GRCh37: 15:90631934-90631934
GRCh38: 15:90088702-90088702
46 IDH2 NM_001289910.1(IDH2):c.360G>C (p.Arg120Ser) SNV Pathogenic 375985 rs1057519736 GRCh37: 15:90631837-90631837
GRCh38: 15:90088605-90088605
47 IDH2 NM_001289910.1(IDH2):c.262C>T (p.Arg88Trp) SNV Pathogenic 375989 rs267606870 GRCh37: 15:90631935-90631935
GRCh38: 15:90088703-90088703
48 FLT3 NM_004119.3(FLT3):c.2508C>G (p.Ile836Met) SNV Pathogenic 375969 rs121913232 GRCh37: 13:28592637-28592637
GRCh38: 13:28018500-28018500
49 IDH2 NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys) SNV Pathogenic 375987 rs121913503 GRCh37: 15:90631838-90631838
GRCh38: 15:90088606-90088606
50 IDH1 NM_001282386.1(IDH1):c.395G>T (p.Arg132Leu) SNV Pathogenic 375889 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388

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

# Symbol AA change Variation ID SNP ID
1 CEBPA p.His84Leu VAR_072677 rs28931590
2 DNMT3A p.Arg882Cys VAR_067236 rs377577594
3 DNMT3A p.Arg882His VAR_067237 rs147001633
4 JAK2 p.Lys607Asn VAR_032696 rs121912472
5 JAK2 p.Val617Phe VAR_032697 rs77375493
6 SETBP1 p.Gly870Ser VAR_063809 rs267607040
7 SETBP1 p.Ser854Ala VAR_069848
8 SETBP1 p.Gly870Arg VAR_069854
9 SETBP1 p.Ile871Ser VAR_069856 rs267607038

Copy number variations for Leukemia, Acute Myeloid from CNVD:

7 (show top 50) (show all 491)
# CNVD ID Chromosome 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 14790 1 110122000 110569000 Gain or loss Acute myeloid leukemia
4 17466 1 142902432 245422360 Duplication Acute myeloid leukemia
5 18096 1 143961000 247125000 Gain or loss Acute myeloid leukemia
6 20826 1 154656757 154656845 Amplification Acute myeloid leukemia
7 24589 1 182359000 182787000 Loss Acute myeloid leukemia
8 26098 1 197094625 197094734 Amplification Acute myeloid leukemia
9 26100 1 197094796 197094905 Amplification Acute myeloid leukemia
10 27148 1 204981000 205049000 Gain or loss Acute myeloid leukemia
11 27263 1 206041820 206041907 Amplification Acute myeloid leukemia
12 27859 1 214500000 224100000 Deletion Acute myeloid leukemia
13 28491 1 222606000 222909000 Gain or loss Acute myeloid leukemia
14 29341 1 230606000 230646000 Gain or loss Acute myeloid leukemia
15 32943 1 40683565 40683656 Amplification Acute myeloid leukemia
16 32944 1 40686494 40686582 Amplification Acute myeloid leukemia
17 33084 1 42072000 42456000 Gain or loss Acute myeloid leukemia
18 35033 1 5913000 7696000 Gain or loss Acute myeloid leukemia
19 35608 1 65296705 65296779 Amplification Acute myeloid leukemia
20 35769 1 67074000 69951000 Gain or loss Acute myeloid leukemia
21 36085 1 71305902 71305987 Amplification MIR186 Acute myeloid leukemia
22 38187 10 1 6700000 Insertion IL15RA Acute myeloid leukemia
23 38188 10 1 6700000 Insertion PRKCQ Acute myeloid leukemia
24 38677 10 104186259 104186331 Deletion Acute myeloid leukemia
25 38804 10 105144000 105144148 Deletion Acute myeloid leukemia
26 39144 10 110889374 110889450 Deletion Acute myeloid leukemia
27 39902 10 122017230 122017301 Deletion MIRLET7A2 Acute myeloid leukemia
28 41668 10 21893278 22027081 Loss MLLT10 Acute myeloid leukemia
29 41990 10 27075530 27189965 Translate ABI1 Acute myeloid leukemia
30 43278 10 46100000 49900000 Copy number GDF10 Acute myeloid leukemia
31 44445 10 57165247 57165335 Deletion Acute myeloid leukemia
32 44874 11 64658609 64658718 Deletion MIR192 Acute myeloid leukemia
33 45369 10 70521000 135283000 Gain Acute myeloid leukemia
34 47681 10 96486000 100815000 Loss Acute myeloid leukemia
35 49592 11 108316750 133951370 Triplication Acute myeloid leukemia
36 50142 11 114500000 121200000 Copy number KMT2A Acute myeloid leukemia
37 50190 11 115400000 120700000 Insertion DDX6 Acute myeloid leukemia
38 50191 11 115400000 120700000 Insertion ETS1 Acute myeloid leukemia
39 50192 11 115400000 120700000 Insertion FLI1 Acute myeloid leukemia
40 50193 11 115400000 120700000 Insertion KMT2A Acute myeloid leukemia
41 50261 11 116297361 116448564 Loss Acute myeloid leukemia
42 50346 11 117203762 118563610 Amplification Acute myeloid leukemia
43 50385 11 117603158 117860329 Duplication Acute myeloid leukemia
44 50437 11 117820656 117856311 Gain KMT2A Acute myeloid leukemia
45 50640 11 118585028 127052111 Deletion Acute myeloid leukemia
46 51468 11 126537000 130235000 Gain Acute myeloid leukemia
47 51512 11 127394408 133951311 Amplification Acute myeloid leukemia
48 52810 11 2016406 2019065 Methylation H19 Acute myeloid leukemia
49 53744 11 32409321 32457081 Mutation WT1 Acute myeloid leukemia
50 54217 11 39671000 39746000 Loss Acute myeloid leukemia

Expression for Leukemia, Acute Myeloid

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

Pathways for Leukemia, Acute Myeloid

Pathways related to Leukemia, Acute Myeloid according to KEGG:

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

GO Terms for Leukemia, Acute Myeloid

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 TP53 TERT RUNX1 PICALM NUP214 NPM1
2 cytosol GO:0005829 9.44 TP53 TERT SH3GL1 PICALM NUP214 NPM1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10 TP53 RUNX1 GATA2 ETV6 DNMT3A CEBPA
2 viral process GO:0016032 9.97 TP53 NUP214 NPM1 FLT3 CEBPA
3 positive regulation of cell proliferation GO:0008284 9.95 NPM1 KRAS KIT JAK2 FLT3
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 TP53 RUNX1 NPM1 MLLT10 GATA2 ETV6
5 positive regulation of gene expression GO:0010628 9.91 TP53 KRAS KIT GATA2 CEBPA
6 MAPK cascade GO:0000165 9.86 KRAS KIT JAK2 FLT3
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.71 KIT JAK2 FLT3
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 KIT JAK2 FLT3
9 hematopoietic stem cell proliferation GO:0071425 9.57 RUNX1 ETV6
10 negative regulation of gene expression GO:0010629 9.55 TP53 TERT RUNX1 PICALM GATA2
11 positive regulation of MAP kinase activity GO:0043406 9.54 KRAS KIT FLT3
12 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 9.49 TP53 TERT
13 ribosomal small subunit export from nucleus GO:0000056 9.46 NUP214 NPM1
14 ribosomal large subunit export from nucleus GO:0000055 9.43 NUP214 NPM1
15 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.43 TP53 TERT GATA2
16 cytokine-mediated signaling pathway GO:0019221 9.43 TP53 KRAS KIT JAK2 FLT3 CEBPA
17 myeloid progenitor cell differentiation GO:0002318 9.32 KIT FLT3
18 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 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.55 TP53 RUNX1 GATA2 ETV6 CEBPA
2 chromatin binding GO:0003682 9.43 TP53 NPM1 MLLT10 GATA2 DNMT3A CEBPA
3 transcription factor binding GO:0008134 9.1 TP53 RUNX1 NPM1 GATA2 DNMT3A CEBPA

Sources for Leukemia, Acute Myeloid

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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