AML
MCID: LKM061
MIFTS: 82

Leukemia, Acute Myeloid (AML)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Leukemia, Acute Myeloid

MalaCards integrated aliases for Leukemia, Acute Myeloid:

Name: Leukemia, Acute Myeloid 57 36
Acute Myeloid Leukemia 11 19 58 75 73 28 5 41 14 16
Leukemia, Acute Myelogenous 57 73 12 38
Acute Myelogenous Leukemia 11 19 58 75
Leukemia, Acute Myeloid, Susceptibility to 57 28 5
Acute Myeloblastic Leukemia 11 75 73
Aml 57 58 73
Therapy Related Acute Myeloid Leukemia and Myelodysplastic Syndrome 58 28
Leukemia, Acute Myeloid, Reduced Survival in, Somatic 57 5
Leukemia, Myelocytic, Acute 11 71
Acute Myelocytic Leukemia 75 73
Acute Myeloid Leukaemia 11 14
Secondary Aml 58 53
Acute Myeloid Leukaemia with Multilineage Dysplasia Without Mention of Remission 33
Acute Myeloid Leukaemia with Myelodysplasia-Related Features 33
Acute Myeloblastic Leukaemia with Multilineage Dysplasia 33
Acute Myeloid Leukemia with Cebpa Somatic Mutations 58
Therapy-Related Aml and Myelodysplastic Syndrome 58
Pure Familial Acute Myeloid Leukemia 58
Acute Myeloid Leukemia, Secondary 75
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 73
Acute Myeloid Leukemia, Somatic 57
Acute Undifferentiated Leukemia 71
Acute Non-Lymphocytic Leukemia 73
Acute Myeloblastic Leukaemia 11
Aml - Acute Myeloid Leukemia 11
Acute Myelogenous Leukaemia 11
Acute Biphenotypic Leukemia 71
Pure Familial Aml 58
Inherited Aml 58
Familial Aml 58

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Acute Myeloid Leukemia: 1-9/100000 (Worldwide, Europe, France, Denmark, United States) 1-5/10000 (Europe, Europe) 58
Therapy Related Acute Myeloid Leukemia and Myelodysplastic Syndrome: <1/1000000 (Europe) 58

Age Of Onset:

Acute Myeloid Leukemia: All ages 58
Therapy Related Acute Myeloid Leukemia and Myelodysplastic Syndrome: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
evidence of anticipation
mean onset age 57 years, 32 years and 13 years in successive generations
many genes with somatic mutation


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:9119
OMIM® 57 601626
ICD9CM 34 205.0
MeSH 43 D015470
NCIt 49 C3171
SNOMED-CT 68 17788007
MESH via Orphanet 44 D015470
ICD10 via Orphanet 32 C92.0
UMLS via Orphanet 72 C0023467 C1292776 C1879321
SNOMED-CT via HPO 69 413443009 91861009
UMLS 71 C0023464 C0023467 C0280141

Summaries for Leukemia, Acute Myeloid

MedlinePlus: 41 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 acute megakaryocytic leukemia and acute myeloid leukemia with bcr-abl1, 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 Disease and PI3K-Akt signaling pathway. The drugs Nicotine and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include Blood, and related phenotypes are acute myeloid leukemia and Reduced mammosphere formation

Orphanet 58 Inherited acute myeloid leukemia: Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.

Acute myeloid leukemia with cebpa somatic mutations: A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).

Acute myeloid leukemia: A group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. They manifest by fever, pallor, anemia, hemorrhages and recurrent infections.

GARD: 19 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.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Wikipedia: 75 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
Acute Myeloid Leukemia with T(6;9) (p23;q34.1) Acute Myeloid Leukemia with T(8;21); (q22; Q22.1)
Acute Myeloid Leukemia with T(1;22)(p13;q13) Subacute Myeloid Leukemia
Acute Myeloid Leukemia with T(9;11)(p22;q23) 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 1715)
# Related Disease Score Top Affiliating Genes
1 acute megakaryocytic leukemia 33.8 TP53 RUNX1 KIT JAK2 GATA2 FLT3
2 acute myeloid leukemia with bcr-abl1 33.7 NPM1 IDH2 FLT3 DNMT3A
3 acute myelomonocytic leukemia 33.7 RUNX1 KIT FLT3 ETV6
4 core binding factor acute myeloid leukemia 33.5 NPM1 KIT FLT3 CEBPA
5 acute erythroid leukemia 33.5 TP53 KIT JAK2 GATA2 FLT3 CEBPA
6 acute basophilic leukemia 33.3 NUP214 KIT ETV6
7 childhood leukemia 33.1 NSD1 NPM1 MLLT10 KIT FLT3 ETV6
8 acute myeloblastic leukemia without maturation 33.1 NPM1 FLT3
9 platelet disorder, familial, with associated myeloid malignancy 33.1 RUNX1 ETV6
10 myeloid leukemia 33.1 TERT RUNX1 PICALM NUP214 NSD1 NPM1
11 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 33.1 KIT JAK2 ETV6 CHIC2
12 diamond-blackfan anemia 33.0 TP53 TERT NPM1 KIT JAK2 GATA2
13 leukemia 32.9 TP53 RUNX1 PICALM NUP214 NPM1 MLLT10
14 acute biphenotypic leukemia 32.8 NUP214 MLLT10 KIT FLT3 ETV6
15 chronic myelomonocytic leukemia 32.7 TP53 RUNX1 NPM1 KRAS KIT JAK2
16 acute myeloid leukemia with t(8;21)(q22;q22) translocation 32.7 RUNX1 KIT FLT3 CEBPA
17 childhood acute myeloid leukemia 32.7 NUP214 NSD1 NPM1 MLLT10 KIT FLT3
18 dyskeratosis congenita 32.6 TP53 TERT NPM1 GATA2 CEBPA
19 shwachman-diamond syndrome 1 32.6 TP53 TERT GATA2 CEBPA
20 myelofibrosis 32.3 TP53 RUNX1 NPM1 KIT JAK2 IDH2
21 myelodysplastic syndrome 32.2 TP53 TERT RUNX1 NUP214 NSD1 NPM1
22 down syndrome 32.2 TP53 RUNX1 JAK2 FLT3 ETV6
23 leukemia, acute lymphoblastic 32.2 TP53 RUNX1 PICALM MLLT10 KRAS KIT
24 neutropenia 32.2 TP53 KRAS JAK2 FLT3 CEBPA
25 wilms tumor 1 32.1 TP53 TERT NPM1 KRAS KIT FLT3
26 thrombocytopenia 32.1 TERT RUNX1 KIT JAK2 GATA2 FLT3
27 nervous system disease 32.1 TP53 TERT KRAS KIT JAK2 IDH2
28 acute promyelocytic leukemia 31.9 TP53 TERT RUNX1 NPM1 KRAS KIT
29 juvenile myelomonocytic leukemia 31.9 RUNX1 NPM1 KRAS KIT JAK2 GATA2
30 pancytopenia 31.9 TP53 TERT RUNX1 KIT FLT3
31 hematologic cancer 31.9 RUNX1 PICALM NPM1 MLLT10 KIT JAK2
32 leukemia, chronic myeloid 31.8 TP53 RUNX1 NPM1 KRAS KIT JAK2
33 blood platelet disease 31.8 TP53 RUNX1 KIT JAK2 FLT3
34 bone marrow cancer 31.8 TP53 NPM1 KIT JAK2 FLT3 DNMT3A
35 leukemia, chronic lymphocytic 31.8 TP53 NPM1 KRAS KIT JAK2 FLT3
36 myeloid sarcoma 31.8 NPM1 KIT FLT3
37 acute leukemia 31.7 RUNX1 MLLT10 KRAS KIT JAK2 GATA2
38 atypical chronic myeloid leukemia, bcr-abl1 negative 31.7 JAK2 FLT3 ETV6
39 myeloma, multiple 31.7 TP53 KRAS JAK2 IDH2 FLT3 DNMT3A
40 essential thrombocythemia 31.6 TP53 TERT KIT JAK2 IDH2 FLT3
41 myeloproliferative neoplasm 31.6 RUNX1 KIT JAK2 FLT3 ETV6 DNMT3A
42 chronic leukemia 31.5 NPM1 KIT JAK2 IDH2 FLT3 ETV6
43 aggressive systemic mastocytosis 31.5 RUNX1 KIT JAK2 FLT3
44 sm-ahnmd 31.5 KIT JAK2 CHIC2
45 plasma cell neoplasm 31.4 TP53 KRAS IDH2 FLT3 DNMT3A
46 lymphoma, non-hodgkin, familial 31.4 TP53 NPM1 JAK2 FLT3 ETV6
47 polycythemia vera 31.4 TP53 KIT JAK2 IDH2 ETV6 DNMT3A
48 childhood acute lymphocytic leukemia 31.4 RUNX1 FLT3 ETV6
49 severe congenital neutropenia 31.3 RUNX1 JAK2 GATA2 CEBPA
50 precursor t-cell acute lymphoblastic leukemia 31.3 PICALM NUP214 MLLT10 FLT3 ETV6

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acute myeloid leukemia 30 HP:0004808

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
acute myelogenous leukemia (aml)

Clinical features from OMIM®:

601626 (Updated 08-Dec-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2
2 no effect GR00402-S-2 10.19 CEBPA CHIC2 ETV6 FLT3 GATA2 IDH2
3 Reduced mammosphere formation GR00396-S 9.5 CEBPA DNMT3A ETV6 IDH2 KRAS NUP214

MGI Mouse Phenotypes related to Leukemia, Acute Myeloid:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2
2 growth/size/body region MP:0005378 10.4 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2
3 cellular MP:0005384 10.36 CEBPA DNMT3A ETV6 FLT3 GATA2 IDH2
4 neoplasm MP:0002006 10.3 CEBPA ETV6 FLT3 IDH2 JAK2 KIT
5 endocrine/exocrine gland MP:0005379 10.29 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2
6 embryo MP:0005380 10.27 DNMT3A ETV6 GATA2 JAK2 KIT KRAS
7 liver/biliary system MP:0005370 10.26 CEBPA ETV6 JAK2 KIT KRAS MLLT10
8 immune system MP:0005387 10.24 CEBPA CHIC2 ETV6 FLT3 IDH2 JAK2
9 normal MP:0002873 10.2 CEBPA ETV6 GATA2 JAK2 KIT KRAS
10 cardiovascular system MP:0005385 10.18 CEBPA CHIC2 ETV6 GATA2 IDH2 JAK2
11 no phenotypic analysis MP:0003012 10.14 CEBPA ETV6 FLT3 KIT KRAS NSD1
12 reproductive system MP:0005389 10.06 CEBPA CHIC2 DNMT3A GATA2 JAK2 KIT
13 hematopoietic system MP:0005397 10.06 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2
14 skeleton MP:0005390 10.03 CHIC2 DNMT3A ETV6 FLT3 IDH2 JAK2
15 mortality/aging MP:0010768 9.91 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2
16 integument MP:0010771 9.36 CEBPA CHIC2 ETV6 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 558)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 4 54-11-5 942 89594
2
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
3
Idarubicin Approved Phase 4 58957-92-9 42890
4
Sargramostim Approved, Investigational Phase 4 123774-72-1
5
Histamine Approved, Investigational Phase 4 51-45-6 774
6
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
7
Amsacrine Approved, Investigational Phase 4 51264-14-3 2179
8
Micafungin Approved, Investigational Phase 4 235114-32-6 477468
9
Lactitol Approved, Investigational Phase 4 585-86-4 157355
10
Lenalidomide Approved Phase 4 191732-72-6 216326
11
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
12
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
13
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731
14
Molgramostim Investigational Phase 4 99283-10-0
15 Cytochrome P-450 Enzyme Inhibitors Phase 4
16 Anti-Bacterial Agents Phase 4
17 Antibiotics, Antitubercular Phase 4
18
Vitamin D2 Phase 4 3249
19 Calciferol Phase 4
20 Ergocalciferols Phase 4
21
Histamine phosphate Phase 4 51-74-1 134614
22 Antiprotozoal Agents Phase 4
23 Antiparasitic Agents Phase 4
24 Hydroxycholecalciferols Phase 4
25
homoharringtonine Phase 4 3628
26 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
27 Angiogenesis Inhibitors Phase 4
28
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
29
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
30
Abatacept Approved Phase 3 332348-12-6
31
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
32
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
33
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
34
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
35
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
36
Adenosine Approved, Investigational Phase 3 58-61-7 60961
37
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
38
Ofloxacin Approved Phase 3 82419-36-1 4583
39
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
40
Pentostatin Approved, Investigational Phase 3 53910-25-1 439693
41
Captopril Approved Phase 3 62571-86-2 44093
42
Morphine Approved, Investigational Phase 3 57-27-2 5288826
43
Cobalt Approved, Experimental, Withdrawn Phase 3 7440-48-4 104729
44
Carvedilol Approved, Investigational Phase 3 72956-09-3 2585
45
Nalbuphine Approved Phase 3 20594-83-6 5311304
46
Enalaprilat Approved Phase 3 76420-72-9 6917719 5462501
47
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5388962 5362032
48
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 3 55-56-1 2713 9552079
49
Mitoxantrone Approved, Investigational Phase 3 70476-82-3, 65271-80-9 4212
50
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033

Interventional clinical trials:

(show top 50) (show all 2619)
# Name Status NCT ID Phase Drugs
1 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
2 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)
3 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
4 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4 decitabine
5 Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT Unknown status NCT02027064 Phase 4 Interferon-alpha
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 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
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 FLAT: Fludarabine, Cytarabine and Topotecan in Treating Patients With Refractory or Relapsed Acute Myeloid Leukemia Completed NCT00488709 Phase 4 Topotecan;Fludarabine;Cytarabine
10 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
11 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 Completed NCT03727750 Phase 4 Gemtuzumab Ozogamicin
12 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
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 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
15 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 Completed NCT03176849 Phase 4
16 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
17 Incidence of Respiratory Viral Infections During AML Induction and Consolidation Chemotherapy Completed NCT01819792 Phase 4
18 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
19 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
20 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
21 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
22 PETHEMA-LAM99:Treatment of the Acute Myeloblastic Leukaemia in Patients Over 65 Years Completed NCT00464217 Phase 4 ARA-C;Idarubicin;Leucomax
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 Evaluation of Antibody Response to High-Dose Seasonal Influenza Vaccination in Patients With Myeloid Malignancy Receiving Chemotherapy Recruiting NCT04484532 Phase 4
25 Immunogénicité de la Vaccination Anti-pneumococcique Dans la leucémie aiguë et le Lymphome Chez l'Adulte Recruiting NCT04460235 Phase 4 Prevenar13 Pneumo-23
26 Open Label, Multi-center, Phase IV Study of Ruxolitinib or Ruxolitinib and Panobinostat Combination, for Patients Who Have Completed Prior Global Novartis or Incyte Sponsored Studies Recruiting NCT02386800 Phase 4 ruxolitinib;panobinostat
27 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
28 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
29 A Phase 4 Study of Venetoclax in Combination With Azacitidine in Newly Diagnosed Subjects With Acute Myeloid Leukemia Who Are Ineligible for Intensive Chemotherapy in China Active, not recruiting NCT05144243 Phase 4 Venetoclax;Azacitidine
30 The Feasibility of Safely Managing Patients Receiving Induction With Liposomal Daunorubicin and Cytarabine (CPX-351) for Acute Myeloid Leukemia (AML) in an Outpatient Environment Terminated NCT03988205 Phase 4 CPX-351
31 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
32 Randomized, Open-Label Study of the Efficacy and Safety of Galinpepimut-S Maintenance Therapy Compared to Best Available Therapy in Acute Myeloid Leukemia Patients Who Have Achieved Complete Remission After Second-Line Salvage Therapy Unknown status NCT04229979 Phase 3 Best Available Therapy
33 Eltrombopag Used in Thrombocytopenia After Comsolidation Therapy in Acute Myeloid Leukemia (AML) Unknown status NCT03701217 Phase 2, Phase 3 Eltrombopag
34 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
35 Haplo-mismatch Donor Stem Cell Transplantation (SCT) Versus Autologous SCT Followed or Not by Maintenance Therapy, for Patients With Acute Myeloid Leukemia (AML) in First Remission: A Chinese Randomized Multicenter Study Unknown status NCT02059720 Phase 3
36 Efficacy and Safety of Decitabine in Combination With Low-dose Cytarabine as Inductive Treatment in Newly Diagnosed Elderly Patients With Acute Myeloid Leukemia Unknown status NCT02985372 Phase 3 Decitabine;Cytarabine
37 A Phase 3, Randomized, Controlled, Multi-Center Study to Evaluate the Efficacy and Safety of Decitabine Combined With HAAG Regimen in Newly Diagnosed Acute Myeloid Leukemia Patients Younger Than 60 Years Unknown status NCT04087967 Phase 3 Decitabine plus HAAG regimen;Idarubicine plus Cytarabine regimen
38 A Phase 3, Open Label, Single Arm, Multi-Center Study to Evaluate the Efficacy and Safety of Decitabine Combined With HAAG Regimen in Elderly Newly Diagnosed Acute Myeloid Leukemia Patients. Unknown status NCT04083911 Phase 3 Decitabine, Homoharringtonine, Aclarubicin, Cytarabine and G-CSF
39 The Effect of Granulocyte-colony Stimulating Factor (G-CSF) on Minimal Residual Disease (MRD) After Induction Therapy in Newly Diagnosed Acute Myeloid Leukemia (AML) Unknown status NCT03665480 Phase 2, Phase 3 G-SCF
40 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)]
41 Multicenter Protocol in Treating Patients With Childhood Acute Myeloid Leukemia. Randomized Study of Maintenance Treatment With Interleukin-2 Unknown status NCT00149162 Phase 3 proleukin
42 CD123/CLL1 CAR-T Cell Therapy for Relapsed and Refractory Acute Myeloid Leukemia Unknown status NCT03631576 Phase 2, Phase 3
43 Low Dose Decitabine + Modified BUCY Conditioning Regimen for High Risk Acute Myeloid Leukemia Undergoing Allo-HSCT Unknown status NCT03256071 Phase 2, Phase 3 Decitabine plus Modified BUCY;Modified BUCY
44 Decitabine+ Fludarabine+Busulfan Conditioning Regimen for Elderly Acute Myeloid Leukemia in Complete Remission Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT03530085 Phase 2, Phase 3 Decitabine;Busulfan (BU);Fludarabine(Flu)
45 Phase III Clinical Trial of Microtransplantation to Treat Elderly Acute Myeloid Leukemia Unknown status NCT02171117 Phase 3
46 A Prospective Randomized Comparison of High-dose Cytarabine an High-dose Daunorubicin in the Induction Chemothrapy for Acute Myeloid Leukemia Unknown status NCT03507842 Phase 3 High dose Cytarabine;Cytarabine;Hign dose Daunorubicin
47 A Multi-center, Open, Randomized-control Study to Compare the Effects and Safety of Idarubicin-strengthened Pretreatment Program and Conventional Busulfan Cyclophosphamide Pretreatment Program on High-risk Acute Myeloid Leukemia Patient Unknown status NCT01766375 Phase 3 Cyclosporin A,mycophenolate mofetil,Methotrexate
48 HLA-mismatched Microtransplantation for High Risk Acute Myeloid Leukemia Unknown status NCT01484171 Phase 3 idarubicin
49 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
50 The Comparison of Transplantation From Family-mismatched/Haploidentical Donors With Matched Unrelated Donors in Adult Patients With Acute Myeloid Leukemia Unknown status NCT01751997 Phase 2, Phase 3 Transplants from 8/8-matched Unrelated donors;Transplants from family-mismatched/haploidentical donors

Search NIH Clinical Center for Leukemia, Acute Myeloid

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cyclophosphamide
Etoposide
etoposide phosphate
Idarubicin
Idarubicin Hydrochloride
Mitoxantrone
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.

Genetic Tests for Leukemia, Acute Myeloid

Genetic tests related to Leukemia, Acute Myeloid:

# Genetic test Affiliating Genes
1 Acute Myeloid Leukemia 28 CEBPA CHIC2 DNMT3A ETV6 FLT3 GATA2 JAK2 KIT KRAS LPP MLLT10 NPM1 NUP214 PICALM RUNX1 SH3GL1 TERT
2 Leukemia, Acute Myeloid, Susceptibility to 28
3 Therapy Related Acute Myeloid Leukemia and Myelodysplastic Syndrome 28

Anatomical Context for Leukemia, Acute Myeloid

Organs/tissues related to Leukemia, Acute Myeloid:

MalaCards : Myeloid, Bone Marrow, Bone, T Cells, Nk Cells, Monocytes, Skin
ODiseA: Blood And Bone Marrow
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 46135)
# Title Authors PMID Year
1
Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. 53 62 57 5
15659725 2005
2
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. 62 57 5
23634996 2013
3
Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia. 62 57 5
22504184 2012
4
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 62 57 5
21892162 2011
5
Recurring mutations found by sequencing an acute myeloid leukemia genome. 62 57 5
19657110 2009
6
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. 62 57 5
19147845 2009
7
Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia. 62 57 5
15806161 2005
8
Mutation of CEBPA in familial acute myeloid leukemia. 62 57 5
15575056 2004
9
Distinctive microRNA signature of acute myeloid leukemia bearing cytoplasmic mutated nucleophosmin. 62 46 57
18308931 2008
10
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 57 5
16247455 2006
11
Biochemical characterization of a novel KRAS insertion mutation from a human leukemia. 57 5
8955068 1996
12
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 53 62 5
19357396 2009
13
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. 62 5
32098966 2020
14
Gain-of-Function Effects of N-Terminal CEBPA Mutations in Acute Myeloid Leukemia. 62 5
31867767 2020
15
Gilteritinib or Chemotherapy for Relapsed or Refractory FLT3-Mutated AML. 62 57
31665578 2019
16
Coordinated alterations in RNA splicing and epigenetic regulation drive leukaemogenesis. 62 57
31578525 2019
17
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. 62 5
31648317 2019
18
Germline CEBPA mutations in Korean patients with acute myeloid leukemia. 62 5
30563700 2019
19
Ivosidenib in IDH1-Mutated Acute Myeloid Leukemia. 62 5
30231226 2018
20
Prediction of acute myeloid leukaemia risk in healthy individuals. 62 57
29988082 2018
21
BCAT1 restricts αKG levels in AML stem cells leading to IDHmut-like DNA hypermethylation. 62 57
29144447 2017
22
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 62 5
28941052 2017
23
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. 62 5
27991732 2017
24
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia. 62 5
27133828 2016
25
Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. 62 5
26944477 2016
26
Assessment of Minimal Residual Disease in Standard-Risk AML. 62 57
26789727 2016
27
BET inhibitor resistance emerges from leukaemia stem cells. 62 57
26367796 2015
28
Transcriptional plasticity promotes primary and acquired resistance to BET inhibition. 62 57
26367798 2015
29
Disease evolution and outcomes in familial AML with germline CEBPA mutations. 62 5
26162409 2015
30
Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia. 62 57
25487151 2015
31
Chemical biology. A small-molecule inhibitor of the aberrant transcription factor CBFβ-SMMHC delays leukemia in mice. 62 57
25678665 2015
32
DNA-damage-induced differentiation of leukaemic cells as an anti-cancer barrier. 62 57
25079327 2014
33
Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients. 62 5
24487413 2014
34
Relapse assessment following allogeneic SCT in patients with MDS and AML. 62 5
24671364 2014
35
WT1 overexpression affecting clinical outcome in non-hodgkin lymphomas and adult acute lymphoblastic leukemia. 62 5
24374862 2014
36
Minimal residual disease monitoring in t(8;21) acute myeloid leukemia based on RUNX1-RUNX1T1 fusion quantification on genomic DNA. 62 5
24616160 2014
37
Reversal of acquired drug resistance in FLT3-mutated acute myeloid leukemia cells via distinct drug combination strategies. 62 5
24619500 2014
38
The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers. 62 5
24656771 2014
39
WT1 vaccination in acute myeloid leukemia: new methods of implementing adoptive immunotherapy. 62 5
24521058 2014
40
Haploinsufficiency of del(5q) genes, Egr1 and Apc, cooperate with Tp53 loss to induce acute myeloid leukemia in mice. 62 5
24381225 2014
41
Wilms' Tumour 1 (WT1) peptide vaccination in patients with acute myeloid leukaemia induces short-lived WT1-specific immune responses. 62 5
24422723 2014
42
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. 62 5
24659740 2014
43
RUNX1 mutation associated with clonal evolution in relapsed pediatric acute myeloid leukemia with t(16;21)(p11;q22). 62 5
24374719 2014
44
Leukaemogenesis induced by an activating β-catenin mutation in osteoblasts. 62 57
24429522 2014
45
Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. 62 57
24522528 2014
46
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. 62 5
24606448 2014
47
Prognostic significance of TP53 mutations and single nucleotide polymorphisms in acute myeloid leukemia: a case series and literature review. 62 5
24641375 2014
48
Overexpression of Wilms tumor 1 gene as a negative prognostic indicator in acute myeloid leukemia. 62 5
24667279 2014
49
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. 62 5
24404189 2014
50
Crenolanib is active against models of drug-resistant FLT3-ITD-positive acute myeloid leukemia. 62 5
24046014 2013

Variations for Leukemia, Acute Myeloid

ClinVar genetic disease variations for Leukemia, Acute Myeloid:

5 (show top 50) (show all 1021)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 JAK2, INSL6 NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn) SNV Pathogenic
14663 rs121912472 GRCh37: 9:5073742-5073742
GRCh38: 9:5073742-5073742
2 FLT3 NM_004119.3(FLT3):c.2508C>G (p.Ile836Met) SNV Pathogenic
375969 rs121913232 GRCh37: 13:28592637-28592637
GRCh38: 13:28018500-28018500
3 FLT3 NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu) SNV Pathogenic
375972 rs121913487 GRCh37: 13:28592640-28592640
GRCh38: 13:28018503-28018503
4 DNMT3A NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly) SNV Pathogenic
375883 rs377577594 GRCh37: 2:25457243-25457243
GRCh38: 2:25234374-25234374
5 KIT NM_000222.3(KIT):c.2446_2447delinsAT (p.Asp816Ile) INDEL Pathogenic
375926 rs1057519709 GRCh37: 4:55599320-55599321
GRCh38: 4:54733154-54733155
6 FLT3 NM_004119.3(FLT3):c.2506A>C (p.Ile836Leu) SNV Pathogenic
375970 rs1057519726 GRCh37: 13:28592639-28592639
GRCh38: 13:28018502-28018502
7 FLT3 NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) SNV Pathogenic
16276 rs121913488 GRCh37: 13:28592642-28592642
GRCh38: 13:28018505-28018505
8 FLT3 NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn) SNV Pathogenic
16274 rs121913488 GRCh37: 13:28592642-28592642
GRCh38: 13:28018505-28018505
9 FLT3 NM_004119.3(FLT3):c.2503G>C (p.Asp835His) SNV Pathogenic
16273 rs121913488 GRCh37: 13:28592642-28592642
GRCh38: 13:28018505-28018505
10 FLT3 NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) SNV Pathogenic
16272 rs121909646 GRCh37: 13:28592641-28592641
GRCh38: 13:28018504-28018504
11 FLT3 FLT3, INTERNAL TANDEM DUP DUP Pathogenic
16270 GRCh37:
GRCh38:
12 NPM1 NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs) INSERT Pathogenic
14001 rs1554138189 GRCh37: 5:170837544-170837545
GRCh38: 5:171410540-171410541
13 NPM1 NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs) INSERT Pathogenic
14000 rs1554138188 GRCh37: 5:170837545-170837546
GRCh38: 5:171410541-171410542
14 NPM1 NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs) INSERT Pathogenic
13999 rs1554138188 GRCh37: 5:170837545-170837546
GRCh38: 5:171410541-171410542
15 NPM1 NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) DUP Pathogenic
13998 rs587776806 GRCh37: 5:170837543-170837544
GRCh38: 5:171410539-171410540
16 ETV6 NM_001987.5(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) INSERT Pathogenic
8985 rs587776710 GRCh37: 12:12043928-12043929
GRCh38: 12:11890994-11890995
17 ETV6 NM_001987.5(ETV6):c.226G>T (p.Glu76Ter) SNV Pathogenic
8984 rs121434637 GRCh37: 12:11992136-11992136
GRCh38: 12:11839202-11839202
18 DNMT3A NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser) SNV Pathogenic
375884 rs377577594 GRCh37: 2:25457243-25457243
GRCh38: 2:25234374-25234374
19 FLT3 NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala) SNV Pathogenic
375973 rs121909646 GRCh37: 13:28592641-28592641
GRCh38: 13:28018504-28018504
20 FLT3 NM_004119.3(FLT3):c.2505T>G (p.Asp835Glu) SNV Pathogenic
375971 rs121913487 GRCh37: 13:28592640-28592640
GRCh38: 13:28018503-28018503
21 IDH1 NM_005896.4(IDH1):c.395G>C (p.Arg132Pro) SNV Pathogenic
375890 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388
22 DNMT3A NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu) SNV Pathogenic
375879 rs147001633 GRCh37: 2:25457242-25457242
GRCh38: 2:25234373-25234373
23 NPM1 NM_002520.7(NPM1):c.869_875delinsCCCTGGCTAGG (p.Trp290fs) INDEL Pathogenic
632551 rs1561878500 GRCh37: 5:170837553-170837559
GRCh38: 5:171410549-171410555
24 DDX41 NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs) INDEL Pathogenic
978203 rs1761157695 GRCh37: 5:176941996-176941996
GRCh38: 5:177514995-177514995
25 CEBPA NM_004364.5(CEBPA):c.320del (p.Asp107fs) DEL Pathogenic
653792 rs1600023511 GRCh37: 19:33793001-33793001
GRCh38: 19:33302095-33302095
26 BCOR NM_001123385.2(BCOR):c.4751del (p.Asn1584fs) DEL Pathogenic
1679813 GRCh37: X:39913577-39913577
GRCh38: X:40054324-40054324
27 CEBPA NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter) SNV Pathogenic
17567 rs121912791 GRCh37: 19:33793173-33793173
GRCh38: 19:33302267-33302267
28 CEBPA NM_004364.5(CEBPA):c.251A>T (p.His84Leu) SNV Pathogenic
17568 rs28931590 GRCh37: 19:33793070-33793070
GRCh38: 19:33302164-33302164
29 CEBPA NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup) DUP Pathogenic
17569 rs1555741948 GRCh37: 19:33792329-33792330
GRCh38: 19:33301423-33301424
30 CEBPA NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup) DUP Pathogenic
17570 rs1555741967 GRCh37: 19:33792369-33792370
GRCh38: 19:33301463-33301464
31 CEBPA NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs) DUP Pathogenic
17571 rs587776849 GRCh37: 19:33793106-33793107
GRCh38: 19:33302200-33302201
32 CEBPA NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter) SNV Pathogenic
988408 rs1210600080 GRCh37: 19:33793146-33793146
GRCh38: 19:33302240-33302240
33 CEBPA NM_004364.5(CEBPA):c.60dup (p.Ser21fs) DUP Pathogenic
1067813 GRCh37: 19:33793260-33793261
GRCh38: 19:33302354-33302355
34 CEBPA NM_004364.5(CEBPA):c.125del (p.Pro42fs) DEL Pathogenic
1452019 GRCh37: 19:33793196-33793196
GRCh38: 19:33302290-33302290
35 CEBPA NM_004364.5(CEBPA):c.69del (p.His24fs) DEL Pathogenic
1452838 GRCh37: 19:33793252-33793252
GRCh38: 19:33302346-33302346
36 CEBPA NM_004364.5(CEBPA):c.332_339del (p.Ala111fs) DEL Pathogenic
434688 rs1555742213 GRCh37: 19:33792982-33792989
GRCh38: 19:33302076-33302083
37 CEBPA NM_004364.5(CEBPA):c.119dup (p.Gln41fs) DUP Pathogenic
434686 rs1555742295 GRCh37: 19:33793201-33793202
GRCh38: 19:33302295-33302296
38 FLT3 NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer) INSERT Pathogenic
16271 rs398122514 GRCh37: 13:28592624-28592625
GRCh38: 13:28018487-28018488
39 RUNX1 NM_001754.5(RUNX1):c.588del (p.Val197fs) DEL Pathogenic
1013620 rs2057541271 GRCh37: 21:36231796-36231796
GRCh38: 21:34859499-34859499
40 CEBPA NM_004364.5(CEBPA):c.209del (p.Pro70fs) DEL Pathogenic
1698770 GRCh37: 19:33793112-33793112
GRCh38: 19:33302206-33302206
41 GATA2 NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) SNV Pathogenic
435281 rs1553770510 GRCh37: 3:128200721-128200721
GRCh38: 3:128481878-128481878
42 TGM6 NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) SNV Pathogenic
31085 rs387907097 GRCh37: 20:2398091-2398091
GRCh38: 20:2417445-2417445
43 CEBPA NM_004364.5(CEBPA):c.186_190del (p.Asp63fs) DEL Pathogenic
408751 rs1060502121 GRCh37: 19:33793131-33793135
GRCh38: 19:33302225-33302229
44 CEBPA NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter) SNV Pathogenic
850564 rs1967195832 GRCh37: 19:33793153-33793153
GRCh38: 19:33302247-33302247
45 CEBPA NM_004364.5(CEBPA):c.206del (p.Asp69fs) DEL Pathogenic
965859 rs1967194243 GRCh37: 19:33793115-33793115
GRCh38: 19:33302209-33302209
46 RUNX1 NM_001754.5(RUNX1):c.320G>A (p.Arg107His) SNV Pathogenic
812740 rs1569084106 GRCh37: 21:36259171-36259171
GRCh38: 21:34886874-34886874
47 KRAS NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) SNV Pathogenic
12590 rs104894366 GRCh37: 12:25398218-25398218
GRCh38: 12:25245284-25245284
48 RUNX1 NM_001754.5(RUNX1):c.161A>T (p.Glu54Val) SNV Pathogenic
1701950 GRCh37: 21:36259330-36259330
GRCh38: 21:34887033-34887033
49 RUNX1 NM_001754.5(RUNX1):c.267G>A (p.Leu89_Val90=) SNV Pathogenic
1701951 GRCh37: 21:36259224-36259224
GRCh38: 21:34886927-34886927
50 CEBPA NM_004364.5(CEBPA):c.1039G>A (p.Glu347Lys) SNV Pathogenic
1701953 GRCh37: 19:33792282-33792282
GRCh38: 19:33301376-33301376

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

73
# 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:

6 (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 27263 1 206041820 206041907 Amplification Acute myeloid leukemia
11 27859 1 214500000 224100000 Deletion Acute myeloid leukemia
12 28491 1 222606000 222909000 Gain or loss Acute myeloid leukemia
13 29341 1 230606000 230646000 Gain or loss Acute myeloid leukemia
14 35033 1 5913000 7696000 Gain or loss Acute myeloid leukemia
15 35608 1 65296705 65296779 Amplification Acute myeloid leukemia
16 35769 1 67074000 69951000 Gain or loss Acute myeloid leukemia
17 36085 1 71305902 71305987 Amplification MIR186 Acute myeloid leukemia
18 38677 10 104186259 104186331 Deletion Acute myeloid leukemia
19 38804 10 105144000 105144148 Deletion Acute myeloid leukemia
20 39144 10 110889374 110889450 Deletion Acute myeloid leukemia
21 39902 10 122017230 122017301 Deletion MIRLET7A2 Acute myeloid leukemia
22 41668 10 21893278 22027081 Loss MLLT10 Acute myeloid leukemia
23 41990 10 27075530 27189965 Translate ABI1 Acute myeloid leukemia
24 43278 10 46100000 49900000 Copy number GDF10 Acute myeloid leukemia
25 44445 10 57165247 57165335 Deletion Acute myeloid leukemia
26 44874 11 64658609 64658718 Deletion MIR192 Acute myeloid leukemia
27 45369 10 70521000 135283000 Gain 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 KMT2A 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 KMT2A Acute myeloid leukemia
35 50261 11 116297361 116448564 Loss Acute myeloid leukemia
36 50346 11 117203762 118563610 Amplification Acute myeloid leukemia
37 50640 11 118585028 127052111 Deletion Acute myeloid leukemia
38 51468 11 126537000 130235000 Gain Acute myeloid leukemia
39 51512 11 127394408 133951311 Amplification Acute myeloid leukemia
40 52810 11 2016406 2019065 Methylation H19 Acute myeloid leukemia
41 54217 11 39671000 39746000 Loss Acute myeloid leukemia
42 54954 11 48161000 49658000 Gain Acute myeloid leukemia
43 55252 11 50257000 134448000 Gain Acute myeloid leukemia
44 55325 11 51052000 134450000 Gain Acute myeloid leukemia
45 55425 11 52900000 134452384 Deletion Acute myeloid leukemia
46 59078 11 72157700 79025590 Amplification Acute myeloid leukemia
47 59643 11 76781009 79702160 Duplication Acute myeloid leukemia
48 59898 11 79188820 117147817 Deletion Acute myeloid leukemia
49 60046 11 81767896 133951370 Duplication Acute myeloid leukemia
50 60678 11 89295514 104865304 Triplication 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 GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 TP53 RUNX1 NUP214 NPM1 KRAS KIT
2
Show member pathways
12.73 TP53 KRAS KIT JAK2 FLT3
3
Show member pathways
12.38 TP53 TERT KRAS KIT JAK2
4 11.87 RUNX1 KIT JAK2 GATA2 CEBPA
5 11.76 KRAS KIT JAK2
6
Show member pathways
11.67 KRAS KIT JAK2
7 11.63 NPM1 KIT JAK2 FLT3
8 11.54 TP53 TERT NPM1
9
Show member pathways
11.51 KRAS KIT FLT3
10 11.44 TP53 TERT KRAS
11 11.36 GATA2 NPM1 TERT
12 11.29 TP53 NSD1 CEBPA
13 11.1 TP53 KRAS JAK2
14 10.1 FLT3 ETV6 DNMT3A

GO Terms for Leukemia, Acute Myeloid

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 10.06 KIT JAK2 FLT3 CEBPA
2 negative regulation of gene expression GO:0010629 9.97 GATA2 NPM1 PICALM TERT TP53
3 positive regulation of miRNA transcription GO:1902895 9.91 TP53 TERT GATA2
4 negative regulation of miRNA maturation GO:1903799 9.8 TP53 TERT
5 myeloid progenitor cell differentiation GO:0002318 9.71 KIT FLT3
6 positive regulation of protein localization to nucleolus GO:1904751 9.62 TERT NPM1
7 regulation of DNA damage response, signal transduction by p53 class mediator GO:0043516 9.56 TP53 NPM1
8 positive regulation of protein modification process GO:0031401 9.48 KIT FLT3
9 myeloid cell differentiation GO:0030099 9.46 JAK2 GATA2 CEBPA
10 hematopoietic stem cell proliferation GO:0071425 9.43 RUNX1 ETV6 CEBPA
11 hemopoiesis GO:0030097 9.28 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 9.44 TP53 NSD1 NPM1 MLLT10 GATA2 DNMT3A

Sources for Leukemia, Acute Myeloid

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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