CML
MCID: LKM063
MIFTS: 72

Leukemia, Chronic Myeloid (CML)

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

Aliases & Classifications for Leukemia, Chronic Myeloid

MalaCards integrated aliases for Leukemia, Chronic Myeloid:

Name: Leukemia, Chronic Myeloid 56 52 73 13 37
Chronic Myelogenous Leukemia 12 74 52 25 58 73 17
Chronic Myeloid Leukemia 12 52 25 58 36 42 15
Cml 56 12 52 25 58 73
Chronic Granulocytic Leukemia 12 52 25 58
Leukemia, Philadelphia Chromosome-Positive, Resistant to Imatinib 56 6
Chronic Myeloid Leukaemia 12 15
Myeloid Leukemia, Chronic 12 71
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic 56
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative 71
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative 73
Leukemia, Myelogenous, Chronic, Bcr-Abl Positive 43
Leukemia, Chronic Myeloid, Atypical 73
Cml - Chronic Myelogenous Leukemia 12
Chronic Granulocytic Leukaemia 12
Leukemia, Chronic Myelogenous 56
Chronic Myelogenous Leukaemia 12
Chronic Myelocytic Leukemia 25
Leukemia, Myeloid, Chronic 39
Myeloid Leukemia Chronic 54
Acml 73
Cgl 25

Characteristics:

Orphanet epidemiological data:

58
chronic myeloid leukemia
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (United States); Age of onset: Adult;

OMIM:

56
Inheritance:
somatic mutation


HPO:

31
leukemia, chronic myeloid:
Inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:8552
OMIM 56 608232
KEGG 36 H00004
ICD9CM 34 205.1
MeSH 43 D015464
NCIt 49 C3174
SNOMED-CT 67 63364005 92818009
ICD10 32 C92.2
ICD10 via Orphanet 33 C92.1
UMLS via Orphanet 72 C0023473
Orphanet 58 ORPHA521
UMLS 71 C0023473 C1292772

Summaries for Leukemia, Chronic Myeloid

Genetics Home Reference : 25 Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue (bone marrow). Normal bone marrow produces red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In chronic myeloid leukemia, the bone marrow produces too many white blood cells. Initially, these cells function relatively normally. However, as the condition progresses, immature white blood cells called myeloblasts (or blasts) accumulate in the blood and bone marrow. The overgrowth of myeloblasts impairs development of other blood cells, leading to a shortage of red blood cells (anemia) and platelets. Chronic myeloid leukemia usually begins after age 60. Common features include excessive tiredness (fatigue), fever, and weight loss. Many affected individuals develop an enlarged spleen (splenomegaly), which can cause a feeling of fullness in the abdomen and a loss of appetite. About half of people with chronic myeloid leukemia do not initially have any signs and symptoms and are diagnosed when a blood test is performed for another reason. The condition consists of three phases: the chronic phase, the accelerated phase, and the blast phase (or blast crisis). In the chronic phase, the number of mature white blood cells is elevated, and myeloblasts account for less than 10 percent of blood cells. Signs and symptoms of the condition during this phase are typically mild or absent and worsen slowly. The chronic phase can last from months to years. In the accelerated phase, the number of myeloblasts is slightly higher, making up 10 to 29 percent of blood cells. The signs and symptoms continue to worsen. The accelerated phase usually lasts 4 to 6 months, although it is skipped in some affected individuals. In blast crisis, 30 percent or more of blood or bone marrow cells are myeloblasts. Signs and symptoms are most severe in this phase, including a massively enlarged spleen, bone pain, and weight loss. Serious infections and uncontrolled bleeding can be life-threatening.

MalaCards based summary : Leukemia, Chronic Myeloid, also known as chronic myelogenous leukemia, is related to philadelphia-negative chronic myeloid leukemia and atypical chronic myeloid leukemia, and has symptoms including edema, chest pain and angina pectoris. An important gene associated with Leukemia, Chronic Myeloid is ABL1 (ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase), and among its related pathways/superpathways are Chronic myeloid leukemia and Endometrial cancer. The drugs Thiotepa and Cefepime have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are myeloproliferative disorder and splenomegaly

Disease Ontology : 12 A myeloid leukemia that is characterized by over production of white blood cells.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 521 Definition Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases. Epidemiology Its annual incidence has been estimated at between 1 and 1.5 cases per 100,000 and its prevalence at around 1 in 17,000. Clinical description The disease is typically triphasic with a chronic phase (CML-CP), accelerated phase (CML-AP) and blast phase (CML-BP). The majority of patients are diagnosed in the chronic phase and may be either asymptomatic (diagnosed through a routine white blood cell count) or present with fatigue, anaemia, weight loss, night sweats or splenomegaly. Etiology CML is characterised by the presence of the Philadelphia chromosome , an abnormality resulting from a balanced translocation between chromosomes 9 and 22 (t(9;22)(q34;q11.2)). This translocation generates a BCR/ABL gene fusion encoding a constitutively active tyrosine kinase. CML does not appear to be an inherited disease and the factors leading to predisposition for the disorder remain largely unknown. Management and treatment Although an allogeneic bone marrow transplant is viewed as the only curative treatment option, the prognosis for patients improved dramatically with the targeted development of imatinib mesylate. Imatinib mesylate is a competitive inhibitor of BCR/ABL tyrosine kinase activity and has held EU marketing authorisation as an Orphan drug for the treatment of CML since 2001. Visit the Orphanet disease page for more resources.

MedlinePlus : 42 Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In chronic myeloid leukemia (CML), there are too many granulocytes, a type of white blood cell. Most people with CML have a gene mutation (change) called the Philadelphia chromosome. Sometimes CML does not cause any symptoms. If you have symptoms, they may include: Fatigue Weight loss Night sweats Fever Pain or a feeling of fullness below the ribs on the left side Tests that examine the blood and bone marrow diagnose CML. Treatments include chemotherapy, stem cell transplants, infusion of donated white blood cells following stem cell transplants, surgery to remove the spleen, and biologic and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses drugs or other substances that attack specific cancer cells with less harm to normal cells. NIH: National Cancer Institute

KEGG : 36 Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (CP), which is characterized by expansion of functionally normal myeloid cells, followed by an accelerated phase (AP) and finally a more aggressive blast phase (BP), with loss of terminal differentiation capacity. On the cellular level, CML is associated with a specific chromosome abnormality, the t(9; 22) reciprocal translocation that forms the Philadelphia (Ph) chromosome. The Ph chromosome is the result of a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene on chromosome 22. The BCR/ABL fusion gene encodes p210 BCR/ABL, an oncoprotein, which, unlike the normal p145 c-Abl, has constitutive tyrosine kinase activity and is predominantly localized in the cytoplasm. While fusion of c-ABL and BCR is believed to be the primary cause of the chronic phase of CML, progression to blast crisis requires other molecular changes. Common secondary abnormalities include mutations in TP53, RB, and p16/INK4A, or overexpression of genes such as EVI1. Additional chromosome translocations are also observed,such as t(3;21)(q26;q22), which generates AML1-EVI1.

UniProtKB/Swiss-Prot : 73 Leukemia, chronic myeloid: A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts.
Leukemia, chronic myeloid, atypical: A myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient's weight loss.

Wikipedia : 74 Chronic myelogenous leukemia (CML), also known as chronic myeloid leukemia, is a cancer of the white... more...

More information from OMIM: 608232

Related Diseases for Leukemia, Chronic 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)

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

(show top 50) (show all 903)
# Related Disease Score Top Affiliating Genes
1 philadelphia-negative chronic myeloid leukemia 35.2 BCR ABL1
2 atypical chronic myeloid leukemia 34.9 SETBP1 RUNX1 JAK2 ABL1
3 leukemia 34.5 RUNX1 NRAS KIT JAK2 HOTAIR BCR
4 polycythemia vera 34.2 KIT JAK2 IFNA1 H19 ABL1
5 juvenile myelomonocytic leukemia 34.0 SETBP1 RUNX1 NRAS JAK2
6 myelodysplastic/myeloproliferative neoplasm 33.9 SETBP1 NRAS KIT JAK2 ABL1
7 myeloid leukemia 33.2 RUNX1 NRAS KIT JAK2 BCR ABL1
8 myelofibrosis 32.9 SETBP1 RUNX1 MIR223 MEG3 KIT JAK2
9 myeloma, multiple 32.7 UCA1 NRAS MIR17 MEG3 KIT JAK2
10 essential thrombocythemia 32.5 MIR223 KIT JAK2 IFNA1 BCR ABL1
11 hematologic cancer 32.5 RUNX1 MIR223 MIR20A MIR17 MIR10A KIT
12 myeloproliferative neoplasm 32.4 RUNX1 NRAS MIR20A MIR17 MIR10A KIT
13 chronic leukemia 32.3 SETBP1 KIT JAK2 BCR ABL1
14 sarcoma 32.3 NRAS KIT JAK2 IFNA1 HOTAIR CRKL
15 leukemia, acute myeloid 32.3 UCA1 SETBP1 RUNX1 NRAS MIR223 MIR17
16 b-cell lymphoma 32.2 MIR20A MIR17 JAK2 HOTAIR BCR
17 gastrointestinal stromal tumor 32.2 KIT JAK2 HOTAIR BCR ABL1
18 gastric cancer 32.1 UCA1 NRAS MIR223 MIR20A MIR203A MIR17
19 bladder cancer 32.1 UCA1 NRAS MIR223 MIR203A MIR17 MIR10A
20 diffuse large b-cell lymphoma 32.0 MIR17 MIR10A JAK2 HULC HOTAIR
21 colorectal cancer 31.9 UCA1 NRAS MIR223 MIR20A MIR203A MIR17
22 acute leukemia 31.9 SETBP1 RUNX1 KIT JAK2 BCR
23 pancreatic cancer 31.9 UCA1 MIR223 MIR20A MIR203A MIR17 MIR10A
24 leukemia, chronic lymphocytic 31.9 NRAS MIR223 MIR20A MIR17 KIT JAK2
25 lymphoma, non-hodgkin, familial 31.9 NRAS MIR20A MIR17 JAK2 BCR
26 hepatocellular carcinoma 31.8 UCA1 NRAS MIR223 MIR20A MIR203A MIR17
27 renal cell carcinoma, nonpapillary 31.8 UCA1 NRAS MIR17 MIR10A KIT IFNA1
28 prostate cancer 31.7 UCA1 MIR223 MIR20A MIR203A MIR17 MIR10A
29 systemic mastocytosis 31.7 NRAS KIT JAK2 IFNA1
30 nasopharyngeal carcinoma 31.7 NRAS MIR17 MEG3 HULC HOTAIR H19
31 mastocytosis 31.7 KIT JAK2 IFNA1
32 leukemia, acute lymphoblastic 3 31.7 RUNX1 BCR ABL1
33 leukemia, acute lymphoblastic 31.7 RUNX1 MIR223 MIR203A MIR17 KIT JAK2
34 kidney cancer 31.7 MIR20A MIR17 MEG3 IFNA1 HOTAIR H19
35 thyroid cancer, nonmedullary, 1 31.7 MEG3 HULC HOTAIR H19
36 myelodysplastic syndrome 31.6 SETBP1 RUNX1 NRAS MIR10A MEG3 KIT
37 chronic myelomonocytic leukemia 31.6 SETBP1 RUNX1 NRAS KIT JAK2
38 ovarian cancer 31.6 UCA1 MIR223 MIR17 MEG3 KIT JAK2
39 childhood leukemia 31.5 RUNX1 BCR ABL1
40 cervical cancer 31.5 UCA1 MIR20A MIR17 MEG3 HULC HOTAIR
41 hypereosinophilic syndrome 31.5 KIT JAK2 IFNA1 ABL1
42 medulloblastoma 31.5 NRAS MIR20A MIR17 KIT JAK2 HOTAIR
43 thyroid gland cancer 31.4 UCA1 NRAS MIR17 KIT HOTAIR H19
44 splenomegaly 31.4 SETBP1 JAK2 IFNA1
45 lung cancer susceptibility 3 31.4 NRAS MIR17 MEG3 KIT HOTAIR H19
46 liver cirrhosis 31.4 MEG3 IFNA1 HULC HOTAIR
47 esophageal cancer 31.4 UCA1 MIR223 MIR203A MEG3 HULC HOTAIR
48 aggressive systemic mastocytosis 31.4 RUNX1 KIT IFNA1 H19
49 childhood acute myeloid leukemia 31.3 SETBP1 NRAS KIT
50 chronic neutrophilic leukemia 31.3 SETBP1 JAK2 IFNA1 ABL1

Comorbidity relations with Leukemia, Chronic Myeloid via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Heart Disease

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



Diseases related to Leukemia, Chronic Myeloid

Symptoms & Phenotypes for Leukemia, Chronic Myeloid

Human phenotypes related to Leukemia, Chronic Myeloid:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myeloproliferative disorder 58 31 obligate (100%) Obligate (100%) HP:0005547
2 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
3 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
4 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
5 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
6 leukocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001974
7 poor appetite 58 31 frequent (33%) Frequent (79-30%) HP:0004396
8 thrombocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001894
9 abnormal basophil morphology 31 frequent (33%) HP:0001912
10 chronic myelogenous leukemia 31 HP:0005506
11 abnormality of blood and blood-forming tissues 58 Frequent (79-30%)
12 abnormality of granulocytes 58 Frequent (79-30%)
13 abnormality of basophils 58 Frequent (79-30%)
14 reduced leukocyte alkaline phosphatase 31 HP:0004852
15 ph-positive acute lymphoblastic leukemia 31 HP:0004848

Symptoms via clinical synopsis from OMIM:

56
Hematology:
chronic myelogenous leukemia
ph-positive acute lymphoblastic leukemia

Laboratory Abnormalities:
low leukocyte alkaline phosphatase activity
presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients
two alternative chimeric oncogene products called p210(bcr-abl) and p185(bcr-abl)
detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease

Clinical features from OMIM:

608232

UMLS symptoms related to Leukemia, Chronic Myeloid:


edema, chest pain, angina pectoris

MGI Mouse Phenotypes related to Leukemia, Chronic Myeloid:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.17 ABL1 BCR CRKL JAK2 KIT NRAS

Drugs & Therapeutics for Leukemia, Chronic Myeloid

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

(show top 50) (show all 420)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thiotepa Approved, Investigational Phase 4 52-24-4 5453
2
Cefepime Approved, Investigational Phase 3 88040-23-7 5479537
3
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
4
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
5
Ofloxacin Approved Phase 3 82419-36-1 4583
6
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
7
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
8
Panobinostat Approved, Investigational Phase 2, Phase 3 404950-80-7 6918837
9
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
10
Morphine Approved, Investigational Phase 3 57-27-2 5288826
11
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
12
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
13
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 2826718 468682
14 Orange Approved Phase 2, Phase 3
15
Mercaptopurine Approved Phase 3 50-44-2 667490
16
Acyclovir Approved Phase 3 59277-89-3 2022
17
Thioguanine Approved Phase 3 154-42-7 2723601
18
Pegaspargase Approved, Investigational Phase 3 130167-69-0
19
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
20
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
21
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
22
Dalteparin Approved Phase 3 9005-49-6
23
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
24
Captopril Approved Phase 3 62571-86-2 44093
25
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
26
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
27
Ribavirin Approved Phase 3 36791-04-5 37542
28
Palivizumab Approved, Investigational Phase 3 188039-54-5
29
Tazobactam Approved Phase 3 89786-04-9 123630
30
Vancomycin Approved Phase 3 1404-90-6 14969 441141
31
Piperacillin Approved Phase 3 66258-76-2 43672
32
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
33
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
34
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
35
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
36
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
37
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
38
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
39
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
40
Polyestradiol phosphate Approved Phase 3 28014-46-2
41
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
42
St. John's Wort Approved, Investigational, Nutraceutical Phase 3 84082-80-4
43 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
44 Anesthetics, Dissociative Phase 3
45 Dextrans Phase 2, Phase 3
46 Anti-Anxiety Agents Phase 3
47 Antipsychotic Agents Phase 3
48 Respiratory System Agents Phase 3
49 Antiprotozoal Agents Phase 3
50 Antiparasitic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 1350)
# Name Status NCT ID Phase Drugs
1 Multicenter, PhaseⅣ, Open Label Trial of Nilotinib in Adult Patients Diagnosed Philadelphia Chromosome Positive(Ph+) Chronic Myeloid Leukemia in CP/AP Intolerant to Dasatinib Unknown status NCT02389920 Phase 4 Nilotinib
2 Low-dose Dasatinib as First-line Treatment for Chronic Myeloid Leukemia Unknown status NCT03216070 Phase 4 Dasatinib 50 MG
3 Efficacy and Safety of Imatinib Mesylate as First-line Treatment for the Patients With Chronic Phase of Chronic Myeloid Leukemia Unknown status NCT02317159 Phase 4 Imatinib
4 ASSESSMENT OF GH-IGF1 AXIS AND TO STUDY RESPONSE TO GH THERAPY IN CHILDREN WITH CML IN REMISSION HAVING GH DEFICIENCY Unknown status NCT01901666 Phase 4 Growth Hormone
5 A Multi-center, Open-label, Exploratory Study of Bcr-Abl Kinetics in Adult Patients on Nilotinib With Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) and a Suboptimal Molecular Response to Imatinib Completed NCT00644878 Phase 4 Nilotinib
6 Randomised Multicentre Phase IV Study to Compare Glivec® (Imatinib Mesylate, STI571) in Monotherapy Versus Glivec® in Combination With Interferon Alpha at Low Doses in the Treatment of Newly-Diagnosed Chronic-Phase Chronic Myeloid Leukaemia Completed NCT00390897 Phase 4 Glivec;Interferon
7 A Single-arm, Open-label, Multi-center Study of Complete Molecular Response (CMR) in Adult Patients With Newly Diagnosed Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Completed NCT01227577 Phase 4 Nilotinib
8 Gleevec Trial in Patients With Newly Diagnosed Chronic Phase Chronic Myelogenous Leukemia Completed NCT00081926 Phase 4 Gleevec
9 A Phase IV, Open-label, Multicenter Study of Dasatinib in Chronic-Phase Chronic Myeloid Leukemia (CP-CML) Patients With Chronic, Low-grade Non-Hematologic Toxicity to Imatinib Completed NCT01660906 Phase 4 Dasatinib
10 A Phase 4 Study of Nilotinib in Korean Patients With Philadelphia Chromosome-positive Chronic Myeloid Leukemia in Chronic Phase Completed NCT03332511 Phase 4 Nilotinib
11 An Open-label, Multicenter Study of Oral AMN107 (Nilotinib) in Adult Patients With Imatinib - Resistant or - Intolerant Chronic Myeloid Leukemia in Blast Crisis, Accelerated Phase or Chronic Phase Previously Enrolled to ENACT (CAMN107A2109) Trial Completed NCT01368523 Phase 4 nilotinib
12 CRESCENDO (Compliance: Role Emerges for Success in CML: Evaluation aND Optimisation): A Prospective, Multi-center, Phase IV Study to Assess the Compliance in Patients With Philadelphia Chromosome-positive (Ph+) and/or BCR-ABL Positive Chronic Myelogenous Leukaemia (CML) Under Long-term Imatinib Therapy Completed NCT01243489 Phase 4
13 An Open-label, Multicenter Study of Treatment With Nilotinib in Adult Patients With Imatinib - Resistant or - Intolerant Chronic Myeloid Leukemia in Blast Crisis, Accelerated Phase or Chronic Phase Completed NCT00786812 Phase 4 Nilotinib
14 Study Comparing Standard Dose and High-dose Imatinib Mesylate in Patients With Chronic Phase Ph+ CML Completed NCT00171899 Phase 4 imatinib mesylate
15 A Phase IV Study of Nilotinib in Patients With Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Who Have Suboptimal Molecular Response on Imatinib Completed NCT01043874 Phase 4 Nilotinib
16 Glivec in Pediatric Chronic Myeloid Leukemia (CML) Completed NCT00845221 Phase 4 Imatinib mesylate 100 mg (Glivec)
17 An Exploratory Trial to Assess the Improvement of Chronic Low-grade Non-hematologic Adverse Events Experienced by Patients With Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Treated With Imatinib When Switched to Nilotinib Treatment Completed NCT00980018 Phase 4 Nilotinib
18 Validation of Digital-PCR Analysis Through Programmed Imatinib Interruption in PCR Negative CML Patients (ISAV) Completed NCT01578213 Phase 4 Imatinib mesylate
19 A Phase IV Study for Nilotinib in Patients With Imatinib-resistant or Intolerant Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia (CML) in Chronic or Accelerated Phase. Completed NCT01206088 Phase 4 nilotinib
20 A Phase IIIb, Multicentre, Open-label Study of Nilotinib in Adult Patients With Newly Diagnosed Philadelphia Chromosome and/or BCR-ABL Positive CML in Chronic Phase Completed NCT01061177 Phase 4 Nilotinib
21 Evaluation of Allogeneic Marrow Transplants Depleted of T-Cells by CD34+ Selection in Patients Undergoing Transplantation With an Unrelated Matched or 1 Antigen Mismatched Donor or a 1 Antigen Mismatched Related Donor Completed NCT00003398 Phase 4 cyclophosphamide;thiotepa
22 Efficacy and Safety of Dasatinib 70 mg as First-Line Treatment for Newly Diagnosed Chronic‐Phase Chronic Myeloid Leukemia (CML-CP) Recruiting NCT04155411 Phase 4 Dasatinib
23 Sustained Treatment-free Remission in BCR-ABL+ Chronic Myeloid Leukemia: a Prospective Study Comparing Nilotinib Versus Imatinib With Switch to Nilotinib in Absence of Optimal Response. SUSTRENIM Study - GIMEMA CLM1415 Recruiting NCT02602314 Phase 4 Imatinib;Nilotinib
24 A PHASE 4 SAFETY AND EFFICACY STUDY OF BOSUTINIB (BOSULIF (REGISTERED)) IN PATIENTS WITH PHILADELPHIA CHROMOSOME POSITIVE CHRONIC MYELOID LEUKEMIA PREVIOUSLY TREATED WITH ONE OR MORE TYROSINE KINASE INHIBITORS Active, not recruiting NCT02228382 Phase 4 Bosutinib
25 A Phase IV Single Arm, Multicenter, Open-label Study Assessing Deep Molecular Response in Adult Patients With Newly Diagnosed Philadelphia Chromosome Positive CML in Chronic Phase After Two Years of Treatment With Nilotinib 300mg BID Active, not recruiting NCT02546674 Phase 4 Nilotinib
26 Efficacy and Safety Assessment of NIlotinib in CML Patients With Suboptimal Response on Imatinib Therapy (NISRI) Terminated NCT02086487 Phase 4 Nilotinib 300 mg.
27 A Multi-center, Single Arm Study of Nilotinib in Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Patients With Low Imatinib Trough Plasma Concentrations Terminated NCT01131325 Phase 4 nilotinib
28 A Phase IV Study to Evaluate Efficacy and Safety of Imatinib(Glinib®) 600mg/Day Depending on Early Molecular Response in Newly Diagnosed Patients With Chronic Myeloid Leukemia in Chronic Phase Terminated NCT02204722 Phase 4 600mg/day of Imatinib;400mg/day of Imatinib
29 Are the Secondary Chromosome Abnormalities Seen in Chronic Myeloid Leukemia (CML) Cells Induced to Ph-Chromosome Negativity by Imatinib a Result of Chromosome Instability or a Side Effect of the Therapy - a Study in GIST (Gastrointestinal Stromal Cell Tumors) Patients Treated With Imatinib. Terminated NCT00461929 Phase 4
30 A Phase II, Non Randomized, Open Label, Trial Evaluating Nilotinib as Treatment for Newly Diagnosed CML Patients in Accelerated Phase. Withdrawn NCT01605981 Phase 4 AMN107
31 Randomized Multicenter Treatment Optimization Study In Chronic Myeloid Leukemia (CML) Interferon-a Vs. Allogeneic Stem Cell Transplantation Vs. High-Dose Chemotherapy Followed By Autografting And Interferon-a Maintainance In Early Chronic Phase Unknown status NCT00025402 Phase 3 busulfan;cyclophosphamide;cytarabine;etoposide;hydroxyurea;idarubicin
32 Evaluation of the Therapeutic Effect of Hydroxyurea Pulse Therapy for Chronic Myeloid Leukemia Patients Unknown status NCT03515018 Phase 3 hydroxyurea;Imatinib
33 PROSPECTIVE RANDOMISED STUDY TO COMPARE LOW-DOSE INTERFERON-ALPHA-n1 (WELLFERON) +/- HYDROXYUREA VS HIGH-DOSE INTERFERON-ALPHA-n1 (WELLFERON) +/- HYDROXYUREA IN PATIENTS WITH NEWLY DIAGONISED CHRONIC PHASE CHRONIC MYELOID LEUKAEMIA Unknown status NCT00002869 Phase 3 cytarabine;hydroxyurea
34 PROSPECTIVE CONTROLLED STUDY FOR THE OPTIMIZATION OF THERAPY IN CHRONIC MYELOID LEUKEMIA (CML): MULTICENTRIC STUDY FOR THE EVALUATION OF INTERFERON ALPHA VS ALLOGENIC BM TRANSPLANTATION WITH CHEMOTHERAPY IN CML Unknown status NCT00002771 Phase 3 busulfan;cytarabine;hydroxyurea;idarubicin
35 Randomized Multicenter Phase III Study Comparing the Rate of Molecular Response 4.5 at 12 Months in Newly Diagnosed Philadelphia Positive Chronic Phase Chronic Myelogenous Leukemia Patients Receiving Either Frontline Nilotinib 600 mg Daily or Nilotinib 600 mg Daily Combined to Pegylated Interferon-alfa 2a (Peg-IFN) Unknown status NCT02201459 Phase 3 Nilotinib (Tasigna ®), capsules of 150 mg;Nilotinib (Tasigna ®) and Pegylated interferon alfa 2a (Pegasys®)
36 Imatinib Versus Imatinib and Peg-Interferon in Patients With Ph+ CML and Complete Cytogenetic Response After Imatinib Therapy Unknown status NCT00297570 Phase 3 Pegylated Interferon and Imatinib
37 A Phase III Randomized Trial of G-CSF Stimulated Bone Marrow vs. Conventional Bone Marrow as a Stem Cell Source In Matched Sibling Donor Transplantation Unknown status NCT00450450 Phase 3
38 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
39 Prospective Study of the Diagnosis and Treatment of Myelodysplastic Syndromes (MDS) in Childhood Unknown status NCT00047268 Phase 3 cytarabine;mercaptopurine
40 Multicenter, Phase III Study Comparing Imatinib (STI571, Glivec®) Standard Dose (400 Mg/Day) With Imatinib High Dose Induction (800 Mg/Day) Followed by Standard Dose Maintenance (400 Mg/Day) in Pretreated CML Patients in Chronic Phase Unknown status NCT00327262 Phase 3 Imatinib
41 A Phase III Multi-center, Open-label, Randomized Study of the Efficacy of Nilotinib Versus Imatinib in Adult Patients With Ph+ CML in Early CP Who Have a Suboptimal Molecular Response to Imatinib Unknown status NCT01400074 Phase 3 Nilotinib, Imatinib
42 Allogeneic Stem Cell Transplantation in CML With Partial T Cell Depletion and Preemptive Donor Lymphocyte Infusion. Unknown status NCT00966810 Phase 2, Phase 3
43 A Randomized Trial of Thymoglobulin to Prevent Chronic Graft Versus Host Disease in Patients Undergoing Hematopoietic Progenitor Cell Transplantation (HPCT) From Unrelated Donors Unknown status NCT01217723 Phase 3
44 Evaluation of Benefit and Side Effects of Double Umbilical Cord Blood Units Stem Cell Transplantation in Hematologic Malignancies Unknown status NCT01015742 Phase 2, Phase 3 Stem cell Transplantation
45 Myeloablative Hematopoietic Progenitor Cell Transplantation (HPCT) for Pediatric Malignancies Unknown status NCT00619879 Phase 3 Myeloablative Chemotherapy Regimen for Lymphoid Malignancies or Cord Blood Unit Recipients;Myeloablative Chemotherapy Regimen for Non-Cord Blood Unit Recipients with Myeloid Malignancies
46 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
47 A Randomized Phase III Study to Assess Intensification of the Conditioning Regimen for Allogenic Stem Cell Transplantation (ALLO-SCT) for Leukemia or Myelodysplastic Syndrome With a High Risk of Relapse Unknown status NCT00002989 Phase 3 busulfan;cyclophosphamide;idarubicin;melphalan
48 Intravenous Low-Dose Decitabine Versus Supportive Care in Elderly Patients With Primary Myelodysplastic Syndrome (MDS) (>10% Blasts or High-Risk Cytogenetics), Secondary MDS or Chronic Myelomonocytic Leukemia (CMML) Who Are Not Eligible for Intensive Therapy: An EORTC-German MDS Study Group Randomized Phase III Study Unknown status NCT00043134 Phase 3 decitabine
49 An Open-label Multi-center Study of Imatinib and Nilotinib in CAMN107ECN02 On-treatment Patients With Philadelphia Chromosome Positive Chronic Myelogenous Leukemia in Chronic Phase After the End of CAMN107ECN02 Core Study Completed NCT02272777 Phase 3 Imatinib;Nilotinib
50 A Randomized Two-by-Two, Multicenter, Open-Label Phase III Study of BMS-354825 Administered Orally at a Dose of 50 mg or 70 mg Twice Daily or 100 mg or 140 mg Once Daily in Subjects With Chronic Phase Philadelphia Chromosome or BCR-ABL Positive Chronic Myelogenous Leukemia Who Are Resistant or Intolerant to Imatinib Mesylate (Gleevec) Completed NCT00123474 Phase 3 dasatinib;dasatinib;dasatinib;dasatinib

Search NIH Clinical Center for Leukemia, Chronic Myeloid

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


bosutinib
Busulfan
Cyclophosphamide
hydroxyurea
Idarubicin
Idarubicin Hydrochloride
Interferon Alfa-2b
Thioguanine
Uracil Mustard

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Leukemia, Chronic Myeloid cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: leukemia, myelogenous, chronic, bcr-abl positive

Genetic Tests for Leukemia, Chronic Myeloid

Anatomical Context for Leukemia, Chronic Myeloid

MalaCards organs/tissues related to Leukemia, Chronic Myeloid:

40
Myeloid, Bone, Bone Marrow, T Cells, Testes, Neutrophil, Spleen

Publications for Leukemia, Chronic Myeloid

Articles related to Leukemia, Chronic Myeloid:

(show top 50) (show all 13167)
# Title Authors PMID Year
1
Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. 56 6 61
11423618 2001
2
Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. 56 54 61
18250304 2008
3
The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. 56 54 61
11739186 2001
4
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 61 56
23222956 2013
5
Loss of the Alox5 gene impairs leukemia stem cells and prevents chronic myeloid leukemia. 56 61
19503090 2009
6
Expansion of Bcr-Abl-positive leukemic stem cells is dependent on Hedgehog pathway activation. 56 61
18772113 2008
7
Requirement for CD44 in homing and engraftment of BCR-ABL-expressing leukemic stem cells. 61 56
16998483 2006
8
Chronic myeloid leukemia. 61 56
14560780 2003
9
Chronic myeloid leukemia--advances in biology and new approaches to treatment. 56 61
14534339 2003
10
Mechanisms of autoinhibition and STI-571/imatinib resistance revealed by mutagenesis of BCR-ABL. 61 56
12654249 2003
11
Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment. 6 61
12130516 2002
12
A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation. 56 61
12114534 2002
13
Imatinib mesylate (STI571) in the treatment of relapse of chronic myeloid leukemia after allogeneic stem cell transplantation. 61 56
11986250 2002
14
Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. 56 61
11287972 2001
15
Activity of a specific inhibitor of the BCR-ABL tyrosine kinase in the blast crisis of chronic myeloid leukemia and acute lymphoblastic leukemia with the Philadelphia chromosome. 61 56
11287973 2001
16
Targeting the BCR-ABL tyrosine kinase in chronic myeloid leukemia. 56 61
11287980 2001
17
Structural mechanism for STI-571 inhibition of abelson tyrosine kinase. 6 54
10988075 2000
18
Chronic myeloid leukemia. 61 56
10219069 1999
19
Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia. 56 54
9326218 1997
20
Suppression of Philadelphia1 leukemia cell growth in mice by BCR-ABL antisense oligodeoxynucleotide. 61 56
8183938 1994
21
Fine mapping of chromosome 22 breakpoints within the breakpoint cluster region (bcr) implies a role for bcr exon 3 in determining disease duration in chronic myeloid leukemia. 61 56
2683759 1989
22
Rearrangement of the bcr gene in Philadelphia chromosome-negative chronic myeloid leukemia. 56 61
2875753 1986
23
Relationship between molecular response and quality of life with bosutinib or imatinib for chronic myeloid leukemia. 42 61
32307568 2020
24
Occurrence of lymphoplasmacytic lymphoma in a chronic myeloid leukemia patient following long-term treatment with tyrosine kinase inhibitors: A case report. 42 61
32384445 2020
25
ABL1-Directed Inhibitors for CML: Efficacy, Resistance and Future Perspectives. 61 42
32366389 2020
26
Dual targeting of p53 and c-MYC selectively eliminates leukaemic stem cells. 56
27281222 2016
27
Erosion of the chronic myeloid leukaemia stem cell pool by PPARγ agonists. 56
26331539 2015
28
Axitinib effectively inhibits BCR-ABL1(T315I) with a distinct binding conformation. 6
25686603 2015
29
Managing children with chronic myeloid leukaemia (CML): recommendations for the management of CML in children and young people up to the age of 18 years. 6
24976289 2014
30
Regulation of myeloid leukaemia by the cell-fate determinant Musashi. 56
20639863 2010
31
Hedgehog signalling is essential for maintenance of cancer stem cells in myeloid leukaemia. 56
19169242 2009
32
Down-regulation of hsa-miR-10a in chronic myeloid leukemia CD34+ cells increases USF2-mediated cell growth. 61 46
19074828 2008
33
The Btk tyrosine kinase is a major target of the Bcr-Abl inhibitor dasatinib. 56
17684099 2007
34
Expression of the miR-17-92 polycistron in chronic myeloid leukemia (CML) CD34+ cells. 46 61
17284533 2007
35
Chromosomal abnormalities in Philadelphia chromosome-negative metaphases appearing during imatinib mesylate therapy in patients with Philadelphia chromosome-positive chronic myelogenous leukemia in chronic phase. 56
14584073 2003
36
IL-3 receptor signaling is dispensable for BCR-ABL-induced myeloproliferative disease. 56
14500898 2003
37
Presence of the BCR-ABL mutation Glu255Lys prior to STI571 (imatinib) treatment in patients with Ph+ acute lymphoblastic leukemia. 6
12663457 2003
38
Prognostic significance of cytogenetic clonal evolution in patients with chronic myelogenous leukemia on imatinib mesylate therapy. 56
12560227 2003
39
Complete molecular remission in chronic myelogenous leukemia after imatinib therapy. 56
12181416 2002
40
Imatinib mesylate--a new oral targeted therapy. 56
11870247 2002
41
BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study. 6
11853795 2002
42
Roots of clinical resistance to STI-571 cancer therapy. 6
11569495 2001
43
The story of chronic myeloid leukaemia. 56
10930974 2000
44
Reversibility of acute B-cell leukaemia induced by BCR-ABL1. 56
10615128 2000
45
A BCR-ABL(p190) fusion gene made by homologous recombination causes B-cell acute lymphoblastic leukemias in chimeric mice with independence of the endogenous bcr product. 56
9310467 1997
46
Induction of chronic myelogenous leukemia in mice by the P210bcr/abl gene of the Philadelphia chromosome. 56
2406902 1990
47
A model of human acute lymphoblastic leukemia in immune-deficient SCID mice. 56
2595371 1989
48
Benzene and leukaemia. 56
2667621 1989
49
The site of the breakpoint within the bcr is a prognostic factor in Philadelphia-positive CML patients. 56
3167206 1988
50
Characteristics of accelerated disease in chronic myelogenous leukemia. 56
3162181 1988

Variations for Leukemia, Chronic Myeloid

ClinVar genetic disease variations for Leukemia, Chronic Myeloid:

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETBP1 NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)SNV Pathogenic 1035 rs267607040 18:42531913-42531913 18:44951948-44951948
2 ABL1 NM_005157.6(ABL1):c.707A>T (p.Glu236Val)SNV Pathogenic 12625 rs387906516 9:133738307-133738307 9:130862920-130862920
3 JAK2 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe)SNV Pathogenic 14662 rs77375493 9:5073770-5073770 9:5073770-5073770
4 NRAS NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)SNV Pathogenic 40469 rs121913250 1:115258748-115258748 1:114716127-114716127
5 ABL1 NM_005157.6(ABL1):c.931T>C (p.Phe311Leu)SNV Pathogenic 12628 rs137853304 9:133748270-133748270 9:130872883-130872883
6 ABL1 NM_005157.6(ABL1):c.1052T>C (p.Met351Thr)SNV Pathogenic/Likely pathogenic 12629 rs121913457 9:133748391-133748391 9:130873004-130873004
7 ABL1 NM_005157.6(ABL1):c.706G>A (p.Glu236Lys)SNV Pathogenic/Likely pathogenic 12626 rs387906517 9:133738306-133738306 9:130862919-130862919
8 ABL1 NM_005157.6(ABL1):c.757T>C (p.Tyr253His)SNV Pathogenic/Likely pathogenic 12627 rs121913461 9:133738357-133738357 9:130862970-130862970
9 ABL1 NM_005157.6(ABL1):c.944C>T (p.Thr315Ile)SNV Pathogenic/Likely pathogenic 12624 rs121913459 9:133748283-133748283 9:130872896-130872896
10 BRAF NM_001374258.1(BRAF):c.1862A>G (p.Asn621Ser)SNV Likely pathogenic 177776 rs121913370 7:140453193-140453193 7:140753393-140753393
11 ABL1 NM_005157.6(ABL1):c.730A>G (p.Met244Val)SNV Likely pathogenic 376084 rs121913456 9:133738330-133738330 9:130862943-130862943
12 ABL1 NM_005157.6(ABL1):c.742C>G (p.Leu248Val)SNV Likely pathogenic 376085 rs121913455 9:133738342-133738342 9:130862955-130862955
13 ABL1 NM_005157.6(ABL1):c.749G>A (p.Gly250Glu)SNV Likely pathogenic 376086 rs121913453 9:133738349-133738349 9:130862962-130862962
14 ABL1 NM_005157.6(ABL1):c.756G>C (p.Gln252His)SNV Likely pathogenic 376087 rs121913458 9:133738356-133738356 9:130862969-130862969
15 ABL1 NM_005157.6(ABL1):c.756G>T (p.Gln252His)SNV Likely pathogenic 376088 rs121913458 9:133738356-133738356 9:130862969-130862969
16 ABL1 NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe)SNV Likely pathogenic 376089 rs121913460 9:133738358-133738358 9:130862971-130862971
17 ABL1 NM_005157.6(ABL1):c.763G>A (p.Glu255Lys)SNV Likely pathogenic 376090 rs121913448 9:133738363-133738363 9:130862976-130862976
18 ABL1 NM_005157.6(ABL1):c.764A>T (p.Glu255Val)SNV Likely pathogenic 376091 rs121913449 9:133738364-133738364 9:130862977-130862977
19 ABL1 NM_005157.6(ABL1):c.847T>G (p.Phe283Val)SNV Likely pathogenic 376092 rs1057519758 9:133747540-133747540 9:130872153-130872153
20 ABL1 NM_005157.6(ABL1):c.951C>A (p.Phe317Leu)SNV Likely pathogenic 376093 rs121913451 9:133748290-133748290 9:130872903-130872903
21 ABL1 NM_005157.6(ABL1):c.951C>G (p.Phe317Leu)SNV Likely pathogenic 376094 rs121913451 9:133748290-133748290 9:130872903-130872903
22 ABL1 NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly)SNV Likely pathogenic 376095 rs121913450 9:133748403-133748403 9:130873016-130873016
23 ABL1 NM_005157.6(ABL1):c.1075T>G (p.Phe359Val)SNV Likely pathogenic 376096 rs121913452 9:133748414-133748414 9:130873027-130873027
24 ABL1 NM_005157.6(ABL1):c.1187A>G (p.His396Arg)SNV Likely pathogenic 376097 rs121913454 9:133750356-133750356 9:130874969-130874969
25 ABL1 NM_005157.6(ABL1):c.895G>C (p.Val299Leu)SNV Likely pathogenic 376117 rs1057519771 9:133747588-133747588 9:130872201-130872201
26 ABL1 NM_005157.6(ABL1):c.943A>G (p.Thr315Ala)SNV Likely pathogenic 376118 rs1057519772 9:133748282-133748282 9:130872895-130872895
27 ABL1 NM_005157.6(ABL1):c.949T>A (p.Phe317Ile)SNV Likely pathogenic 376119 rs1057519773 9:133748288-133748288 9:130872901-130872901
28 ABL1 NM_005157.6(ABL1):c.949T>G (p.Phe317Val)SNV Likely pathogenic 376120 rs1057519773 9:133748288-133748288 9:130872901-130872901
29 ABL1 NM_005157.6(ABL1):c.950T>G (p.Phe317Cys)SNV Likely pathogenic 376121 rs1057519774 9:133748289-133748289 9:130872902-130872902
30 ABL1 NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile)SNV Likely pathogenic 376122 rs121913452 9:133748414-133748414 9:130873027-130873027
31 ABL1 NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu)SNV Likely pathogenic 376123 rs121913452 9:133748414-133748414 9:130873027-130873027
32 ABL1 NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys)SNV Likely pathogenic 376124 rs1057519775 9:133748415-133748415 9:130873028-130873028
33 CSF3R NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala)SNV Likely pathogenic 376125 rs1057519776 1:36933444-36933444 1:36467843-36467843
34 CSF3R NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)SNV Uncertain significance 208339 rs796065343 1:36933434-36933434 1:36467833-36467833
35 KIT NM_000222.2(KIT):c.1621A>C (p.Met541Leu)SNV Benign/Likely benign 41599 rs3822214 4:55593464-55593464 4:54727298-54727298
36 BCR NM_004327.4(BCR):c.2699A>G (p.Asn900Ser)SNV not provided 143220 rs752530462 22:23631800-23631800 22:23289613-23289613
37 BCR NM_004327.4(BCR):c.2707+21G>TSNV not provided 143221 rs527236142 22:23631829-23631829 22:23289642-23289642
38 BCR NM_004327.4(BCR):c.2750T>A (p.Val917Asp)SNV not provided 143222 rs527236143 22:23632568-23632568 22:23290381-23290381
39 ABL1 NM_005157.6(ABL1):c.949T>C (p.Phe317Leu)SNV not provided 376352 rs1057519773 9:133748288-133748288 9:130872901-130872901

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

73
# Symbol AA change Variation ID SNP ID
1 SETBP1 p.Asp868Asn VAR_063807 rs267607042
2 SETBP1 p.Gly870Ser VAR_063809 rs267607040
3 SETBP1 p.Ile871Thr VAR_063810 rs267607038
4 SETBP1 p.Glu858Lys VAR_069849 rs117870202

Copy number variations for Leukemia, Chronic Myeloid from CNVD:

7 (show all 45)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 37133 1 858000 52858291 Copy numbercopy numberLOH Chronic myeloid leukemia
2 44672 10 61218526 61336824 Translate D10S170 Chronic myelogenous leukemia
3 56890 11 61840484 62345935 Loss Chronic myeloid leukemia
4 59436 11 75208816 75845444 Loss Chronic myeloid leukemia
5 78023 13 48911492 50087172 Loss Chronic myeloid leukemia
6 83260 14 19767470 106339477 Gain Chronic myeloid leukemia
7 84230 14 24600000 33300000 Deletion Chronic myeloid leukemia
8 99762 16 28519207 31440323 Loss Chronic myeloid leukemia
9 138867 2 172217486 173146666 Loss Chronic myeloid leukemia
10 143230 2 234301355 238853232 Loss Chronic myeloid leukemia
11 162523 22 21962191 22180167 Loss Chronic myeloid leukemia
12 162524 22 21962191 22410163 Loss Chronic myeloid leukemia
13 162525 22 21962191 23748456 Loss Chronic myeloid leukemia
14 162526 22 21963005 23840758 Loss Chronic myeloid leukemia
15 162527 22 21965685 22103948 Loss Chronic myeloid leukemia
16 162528 22 21965685 22211587 Loss Chronic myeloid leukemia
17 162529 22 21965685 22575018 Loss Chronic myeloid leukemia
18 162530 22 21965685 23038955 Loss Chronic myeloid leukemia
19 162531 22 21965685 23404027 Loss Chronic myeloid leukemia
20 162532 22 21965685 23779268 Loss Chronic myeloid leukemia
21 162533 22 21969649 23264408 Loss Chronic myeloid leukemia
22 162539 22 21996232 23317147 Loss Chronic myeloid leukemia
23 162540 22 22020300 22659711 Loss Chronic myeloid leukemia
24 162567 22 22184646 22476629 Loss Chronic myeloid leukemia
25 162599 22 22374488 22513875 Loss Chronic myeloid leukemia
26 162992 22 23595985 23627388 Copy number Chronic myeloid leukemia
27 227187 7 65425674 65447246 Copy number GUSB Chronic myeloid leukemia
28 229935 7 97199324 142723486 Loss Chronic myeloid leukemia
29 231976 8 109706119 120929916 Loss Chronic myeloid leukemia
30 239048 8 3687491 5908007 Loss Chronic myeloid leukemia
31 247260 9 129645960 132672275 Loss Chronic myeloid leukemia
32 247319 9 130014643 132618574 Loss Chronic myeloid leukemia
33 247584 9 130432414 131425779 Loss Chronic myeloid leukemia
34 247725 9 130855419 132584828 Loss Chronic myeloid leukemia
35 247730 9 130896183 132618574 Loss Chronic myeloid leukemia
36 247834 9 131532978 132607062 Loss Chronic myeloid leukemia
37 247856 9 131641050 132590178 Loss Chronic myeloid leukemia
38 247886 9 131997035 132590178 Loss Chronic myeloid leukemia
39 247924 9 132362204 132593161 Loss Chronic myeloid leukemia
40 247932 9 132430323 132610819 Loss Chronic myeloid leukemia
41 248025 9 132985174 134219212 Loss Chronic myeloid leukemia
42 248051 9 133107127 133390056 Loss Chronic myeloid leukemia
43 248180 9 133589267 133763060 Copy number ABL1 Chronic myeloid leukemia
44 250432 9 212399 32604310 Loss Chronic myeloid leukemia
45 251914 9 3330 20811568 Copy numbercopy numberLOH Chronic myeloid leukemia

Expression for Leukemia, Chronic Myeloid

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

Pathways for Leukemia, Chronic Myeloid

Pathways related to Leukemia, Chronic Myeloid according to KEGG:

36
# Name Kegg Source Accession
1 Chronic myeloid leukemia hsa05220

GO Terms for Leukemia, Chronic Myeloid

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.81 RUNX1 MIR20A MIR17 CRKL
2 cytokine-mediated signaling pathway GO:0019221 9.8 KIT JAK2 IFNA1 CRKL
3 cellular response to lipopolysaccharide GO:0071222 9.71 MIR20A MIR17 BCR ABL1
4 protein autophosphorylation GO:0046777 9.67 KIT JAK2 BCR ABL1
5 outflow tract morphogenesis GO:0003151 9.61 MIR20A MIR17 CRKL
6 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.5 MIR20A MIR17 JAK2
7 negative regulation of cell-cell adhesion GO:0022408 9.48 JAK2 ABL1
8 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.46 MIR20A MIR17
9 positive regulation of phagocytosis GO:0050766 9.43 MIR20A MIR17 BCR
10 gene silencing by miRNA GO:0035195 9.17 MIR223 MIR20A MIR203A MIR17 MIR10A MEG3
11 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.16 MIR20A MIR17
12 platelet-derived growth factor receptor signaling pathway GO:0048008 9.13 JAK2 BCR ABL1

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

# Name GO ID Score Top Affiliating Genes
1 SH2 domain binding GO:0042169 9.13 KIT JAK2 ABL1
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.02 MIR223 MIR20A MIR203A MIR17 MIR10A

Sources for Leukemia, Chronic Myeloid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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