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CML
MCID: LKM063
MIFTS: 74

Leukemia, Chronic Myeloid (CML)

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

About this section

MalaCards integrated aliases for Leukemia, Chronic Myeloid:

Name: Leukemia, Chronic Myeloid 57 53 74 13 38
Chronic Myelogenous Leukemia 12 75 53 25 59 74 29 6 15 17
Chronic Myeloid Leukemia 12 53 25 59 37 43 15
Cml 57 12 53 25 59 74
Chronic Granulocytic Leukemia 12 53 25 59
Leukemia, Philadelphia Chromosome-Positive, Resistant to Imatinib 57 6
Myeloid Leukemia, Chronic 12 72
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic 57
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative 72
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative 74
Leukemia, Myelogenous, Chronic, Bcr-Abl Positive 44
Leukemia, Chronic Myeloid, Atypical 74
Cml - Chronic Myelogenous Leukemia 12
Leukemia, Chronic Myelogenous 57
Chronic Myelocytic Leukemia 25
Leukemia, Myeloid, Chronic 40
Myeloid Leukemia Chronic 55
Acml 74
Cgl 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
somatic mutation


HPO:

32
leukemia, chronic myeloid:
Inheritance somatic mutation


Classifications:

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


External Ids:

Disease Ontology 12 DOID:8552
OMIM 57 608232
KEGG 37 H00004
ICD9CM 35 205.1
MeSH 44 D015464
NCIt 50 C3174
SNOMED-CT 68 63364005 92818009
ICD10 33 C92.2
ICD10 via Orphanet 34 C92.1
UMLS via Orphanet 73 C0023473
Orphanet 59 ORPHA521
UMLS 72 C0023473 C1292772
Sources

Summaries for Leukemia, Chronic Myeloid

About this section
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 angina pectoris, edema and chest pain. 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 Ketamine 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 : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 521DefinitionChronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.EpidemiologyIts 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 descriptionThe 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.EtiologyCML 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 treatmentAlthough 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 : 43 Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, 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 substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute

KEGG : 37
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 : 74 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 : 75 Chronic myelogenous leukemia (CML), also known as chronic myeloid leukemia, is a cancer of the white... more...

More information from OMIM: 608232
Sources

Related Diseases for Leukemia, Chronic Myeloid

About this section

Diseases in the Myeloid Leukemia family:

Leukemia, Acute Myeloid Leukemia, Chronic Myeloid
Subacute Myeloid Leukemia Acute Myeloid Leukemia with T(9;11)(p22;q23)
Acute Myeloid Leukemia with T(6;9)(p23;q34)

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

(show top 50) (show all 827)
# Related Disease Score Top Affiliating Genes
1 philadelphia-negative chronic myeloid leukemia 35.5 BCR ABL1
2 atypical chronic myeloid leukemia 34.8 SETBP1 RUNX1 JAK2 CSF3R ABL1
3 leukemia 34.3 RUNX1 NRAS KIT JAK2 HOTAIR CSF3R
4 polycythemia vera 34.2 KIT JAK2 H19 ABL1
5 juvenile myelomonocytic leukemia 34.1 SETBP1 RUNX1 NRAS JAK2
6 myeloid leukemia 33.1 RUNX1 NRAS KIT JAK2 CSF3R BCR
7 myelofibrosis 32.6 MIR223 MEG3 KIT JAK2
8 essential thrombocythemia 32.4 MIR223 JAK2 BCR ABL1
9 chronic leukemia 32.4 SETBP1 JAK2 CSF3R BCR
10 myeloma, multiple 32.3 UCA1 NRAS MEG3 KIT JAK2 HOTAIR
11 hematologic cancer 32.1 RUNX1 KIT JAK2 CSF3R BCR ABL1
12 myeloproliferative neoplasm 31.8 KIT JAK2 H19 BCR ABL1
13 leukemia, acute lymphoblastic 31.8 RUNX1 MIR223 MIR203A BCR ABL1
14 leukemia, acute lymphoblastic 3 31.8 RUNX1 BCR ABL1
15 leukemia, acute myeloid 31.8 UCA1 SETBP1 RUNX1 NRAS MIR223 MEG3
16 diffuse large b-cell lymphoma 31.7 MIR10A HULC HOTAIR
17 thyroid cancer, nonmedullary, 1 31.7 MEG3 HULC HOTAIR H19
18 nasopharyngeal carcinoma 31.6 NRAS MEG3 HULC HOTAIR H19
19 gastric cancer 31.6 UCA1 MIR223 MIR20A MIR203A MEG3 HULC
20 kidney cancer 31.6 MIR20A MIR17 MEG3 HOTAIR H19
21 colorectal cancer 31.5 UCA1 NRAS MIR223 MIR20A MIR203A MIR10A
22 bladder cancer 31.5 UCA1 MIR223 MIR203A MIR10A MEG3 HULC
23 pancreatic cancer 31.5 UCA1 MIR223 MIR20A MIR203A MIR10A MEG3
24 chronic myelomonocytic leukemia 31.4 SETBP1 RUNX1 KIT JAK2 CSF3R
25 renal cell carcinoma, nonpapillary 31.3 UCA1 KIT HOTAIR H19
26 myelodysplastic syndrome 31.3 SETBP1 RUNX1 NRAS MIR10A MEG3 KIT
27 osteogenic sarcoma 31.3 UCA1 MEG3 HULC HOTAIR H19
28 cervical cancer 31.3 UCA1 MEG3 HULC HOTAIR H19
29 esophageal cancer 31.3 UCA1 MIR223 MIR203A MEG3 HULC HOTAIR
30 medulloblastoma 31.2 NRAS MIR20A MIR17 HOTAIR H19
31 psoriasis 31.2 MIR20A MIR203A MIR10A
32 hepatocellular carcinoma 31.2 UCA1 NRAS MIR223 MIR20A MIR203A MEG3
33 acute promyelocytic leukemia 31.2 RUNX1 NRAS MIR223 CSF3R
34 melanoma 31.2 UCA1 NRAS MEG3 HOTAIR H19
35 ovarian cancer 31.1 UCA1 MIR223 MEG3 HOTAIR H19 ABL1
36 gastric adenocarcinoma 31.0 NRAS KIT HOTAIR H19
37 aggressive systemic mastocytosis 31.0 KIT H19
38 acute leukemia 30.9 RUNX1 KIT JAK2
39 lung cancer susceptibility 3 30.7 NRAS MEG3 HOTAIR H19
40 congenital generalized lipodystrophy 11.7
41 pdgfrb-associated chronic eosinophilic leukemia 11.6
42 myelodysplastic/myeloproliferative neoplasm 11.4
43 myelocytic leukemia-like syndrome, familial, chronic 11.4
44 lipodystrophy, congenital generalized, type 2 11.2
45 lipodystrophy, congenital generalized, type 1 11.2
46 ovarian epithelial cancer 11.1 MEG3 HULC HOTAIR H19
47 bone marrow cancer 11.1 RUNX1 KIT JAK2 CSF3R BCR ABL1
48 neutrophilia, hereditary 11.1 MIR223 JAK2 CSF3R
49 core binding factor acute myeloid leukemia 11.1 RUNX1 NRAS KIT JAK2
50 functionless pituitary adenoma 11.1 MEG3 HOTAIR

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
Sources

Symptoms & Phenotypes for Leukemia, Chronic Myeloid

About this section

Human phenotypes related to Leukemia, Chronic Myeloid:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myeloproliferative disorder 59 32 obligate (100%) Obligate (100%) HP:0005547
2 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
3 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
4 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
5 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
6 thrombocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001894
7 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
8 poor appetite 59 32 frequent (33%) Frequent (79-30%) HP:0004396
9 abnormal basophil morphology 32 frequent (33%) HP:0001912
10 chronic myelogenous leukemia 32 HP:0005506
11 abnormality of blood and blood-forming tissues 59 Frequent (79-30%)
12 abnormality of granulocytes 59 Frequent (79-30%)
13 abnormality of basophils 59 Frequent (79-30%)
14 reduced leukocyte alkaline phosphatase 32 HP:0004852
15 ph-positive acute lymphoblastic leukemia 32 HP:0004848

Symptoms via clinical synopsis from OMIM:

57
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:


angina pectoris, edema, chest pain

MGI Mouse Phenotypes related to Leukemia, Chronic Myeloid:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.17 ABL1 BCR CRKL JAK2 KIT NRAS
Sources

Drugs & Therapeutics for Leukemia, Chronic Myeloid

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

(show top 50) (show all 465)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thiotepa Approved, Investigational Phase 4 52-24-4 5453
2
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
3
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492 6473866
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
6
Panobinostat Approved, Investigational Phase 2, Phase 3 404950-80-7 6918837
7
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
8
Morphine Approved, Investigational Phase 3 57-27-2 5288826
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
10
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
11 Orange Approved Phase 2, Phase 3
12
Mercaptopurine Approved Phase 3 50-44-2 667490
13
Acyclovir Approved Phase 3 59277-89-3 2022
14
Thioguanine Approved Phase 3 154-42-7 2723601
15
Pegaspargase Approved, Investigational Phase 3 130167-69-0
16
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
17
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
18
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
19
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
20
Ribavirin Approved Phase 3 36791-04-5 37542
21
Palivizumab Approved, Investigational Phase 3 188039-54-5
22
Dalteparin Approved Phase 3 9005-49-6
23
Captopril Approved Phase 3 62571-86-2 44093
24
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
25
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
26
Tazobactam Approved Phase 3 89786-04-9 123630
27
Piperacillin Approved Phase 3 66258-76-2 43672
28
Vancomycin Approved Phase 3 1404-90-6 441141 14969
29
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
30
Lorazepam Approved Phase 3 846-49-1 3958
31
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
32
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
33
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
34
Peginterferon alfa-2b Approved Phase 2, Phase 3 99210-65-8, 215647-85-1
35
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
36
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
37
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
38
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
39
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
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 Central Nervous System Depressants Phase 3
47 Tranquilizing Agents Phase 3
48 Anti-Anxiety Agents Phase 3
49 Serotonin Antagonists Phase 3
50 Antipruritics Phase 3

Interventional clinical trials:

(show top 50) (show all 1299)
# Name Status NCT ID Phase Drugs
1 Multicenter, Phaseâ…£, 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 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 Unknown status NCT01243489 Phase 4
5 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
6 Gleevec Trial in Patients With Newly Diagnosed Chronic Phase Chronic Myelogenous Leukemia Completed NCT00081926 Phase 4 Gleevec
7 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
8 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
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 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
13 Study Comparing Standard Dose and High-dose Imatinib Mesylate in Patients With Chronic Phase Ph+ CML Completed NCT00171899 Phase 4 imatinib mesylate
14 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
15 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
16 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
17 Glivec in Pediatric Chronic Myeloid Leukemia (CML) Completed NCT00845221 Phase 4 Imatinib mesylate 100 mg (Glivec)
18 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
19 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
20 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
21 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
22 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
23 Validation of Digital-PCR Analysis Through Programmed Imatinib Interruption in PCR Negative CML Patients (ISAV) Active, not recruiting NCT01578213 Phase 4 Imatinib mesylate
24 Efficacy and Safety Assessment of NIlotinib in CML Patients With Suboptimal Response on Imatinib Therapy (NISRI) Terminated NCT02086487 Phase 4 Nilotinib 300 mg.
25 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
26 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
27 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
28 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
29 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
30 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®)
31 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
32 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
33 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
34 Prospective Study of the Diagnosis and Treatment of Myelodysplastic Syndromes (MDS) in Childhood Unknown status NCT00047268 Phase 3 cytarabine;mercaptopurine
35 Multicenter Trial Estimating the Persistence of Molecular Remission in Chronic Myeloid Leukemia After Stopping TKI Unknown status NCT01596114 Phase 3
36 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
37 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
38 Allogeneic Stem Cell Transplantation in CML With Partial T Cell Depletion and Preemptive Donor Lymphocyte Infusion. Unknown status NCT00966810 Phase 2, Phase 3
39 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
40 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
41 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
42 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
43 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
44 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
45 An Open-Label, Randomized, Multicenter Phase III Trial of Dasatinib (SPRYCEL®) vs. Standard Dose Imatinib (400 mg) in the Treatment of Subjects With Newly Diagnosed Chronic Phase Philadelphia Chromosome Positive Chronic Myeloid Leukemia Completed NCT00481247 Phase 3 Dasatinib;Imatinib
46 A Phase 3 Multinational, Multi-center, Open-Label, Randomized Study of the Efficacy of Radotinib Versus Imatinib in Newly Diagnosed Ph+ CML Patients in Early Chronic Phase Completed NCT01511289 Phase 3 Imatinib;Radotinib
47 A Randomized Two-Arm, Multicenter, Open-Label Phase III Study of BMS-354825 Administered Orally at a Dose of 70 mg Twice Daily or 140 mg Once Daily in Subjects With Chronic Myeloid Leukemia in Accelerated Phase or in Myeloid or Lymphoid Blast Phase or With Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia Who Are Resistant or Intolerant to Imatinib Mesylate (Gleevec) Completed NCT00123487 Phase 3 dasatinib;dasatinib
48 ENESTChina: A Phase III Multi-center, Open-label, Randomized Study of Nilotinib Versus Imatinib in Chinese Adult Patients With Newly Diagnosed Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Completed NCT01275196 Phase 3 Nilotinib;Imatinib
49 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
50 A Phase II, Multicentre Study of Oral LBH589 in Patients With Chronic Phase Chronic Myeloid Leukemia With Resistant Disease Following Treatment With at Least Two BCR-ABL Tyrosine Kinase Inhibitors Completed NCT00451035 Phase 2, Phase 3 LBH589

Search NIH Clinical Center for Leukemia, Chronic Myeloid

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


bosutinib
Busulfan
Busulfan
Cyclophosphamide
Cyclophosphamide
Dasatinib
hydroxyurea
Idarubicin
Idarubicin Hydrochloride
Imatinib
Interferon Alfa-2b
Nilotinib
Ponatinib
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.
Stem-cell-based therapeutic approaches for Leukemia, Chronic Myeloid:
Hemacord, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
Hematopoietic stem cells for treatment of hematologic malignancies
StemEx, umbilical cord blood stem/progenitor cells for hematological diseases
Embryonic/Adult Cultured Cells Related to Leukemia, Chronic Myeloid:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD) PMIDs: 9828244
Bone marrow-derived hematopoietic stem cells
Umbilical cord blood stem/progenitor cells (Stemex) PMIDs: 18209724

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

Sources

Genetic Tests for Leukemia, Chronic Myeloid

About this section

Genetic tests related to Leukemia, Chronic Myeloid:

# Genetic test Affiliating Genes
1 Chronic Myelogenous Leukemia 29 ABL1 BCR
Sources

Anatomical Context for Leukemia, Chronic Myeloid

About this section

MalaCards organs/tissues related to Leukemia, Chronic Myeloid:

41
Myeloid, Bone, Bone Marrow, T Cells, Testes, Neutrophil, Spleen
Sources

Publications for Leukemia, Chronic Myeloid

About this section

Articles related to Leukemia, Chronic Myeloid:

(show top 50) (show all 8204)
# Title Authors PMID Year
1
Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. 8 71
11423618 2001
2
Structural mechanism for STI-571 inhibition of abelson tyrosine kinase. 9 38 71
10988075 2000
3
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. 9 38 8
9326218 1997
4
Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. 9 8
18250304 2008
5
The Btk tyrosine kinase is a major target of the Bcr-Abl inhibitor dasatinib. 38 8
17684099 2007
6
Chromosomal abnormalities in Philadelphia chromosome-negative metaphases appearing during imatinib mesylate therapy in patients with Philadelphia chromosome-positive chronic myelogenous leukemia in chronic phase. 38 8
14584073 2003
7
Presence of the BCR-ABL mutation Glu255Lys prior to STI571 (imatinib) treatment in patients with Ph+ acute lymphoblastic leukemia. 38 71
12663457 2003
8
Prognostic significance of cytogenetic clonal evolution in patients with chronic myelogenous leukemia on imatinib mesylate therapy. 38 8
12560227 2003
9
Complete molecular remission in chronic myelogenous leukemia after imatinib therapy. 38 8
12181416 2002
10
The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins. 9 8
11739186 2001
11
Induction of chronic myelogenous leukemia in mice by the P210bcr/abl gene of the Philadelphia chromosome. 38 8
2406902 1990
12
The site of the breakpoint within the bcr is a prognostic factor in Philadelphia-positive CML patients. 38 8
3167206 1988
13
Characteristics of accelerated disease in chronic myelogenous leukemia. 38 8
3162181 1988
14
CML patients in blast crisis have breakpoints localized to a specific region of the BCR. 38 8
3038213 1987
15
Overlapping cDNA clones define the complete coding region for the P210c-abl gene product associated with chronic myelogenous leukemia cells containing the Philadelphia chromosome. 38 8
3540951 1986
16
High resolution chromosomes of the t(9;22) positive leukemias. 38 8
6584200 1984
17
In situ hybridization and translocation breakpoint mapping. I. Nonidentical 22q11 breakpoints for the t(9;22) of CML and the t(8;22) of Burkitt lymphoma. 38 8
6467987 1984
18
Dual targeting of p53 and c-MYC selectively eliminates leukaemic stem cells. 8
27281222 2016
19
Erosion of the chronic myeloid leukaemia stem cell pool by PPARγ agonists. 8
26331539 2015
20
Axitinib effectively inhibits BCR-ABL1(T315I) with a distinct binding conformation. 71
25686603 2015
21
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. 71
24976289 2014
22
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 8
23222956 2013
23
Regulation of myeloid leukaemia by the cell-fate determinant Musashi. 8
20639863 2010
24
Loss of the Alox5 gene impairs leukemia stem cells and prevents chronic myeloid leukemia. 8
19503090 2009
25
Hedgehog signalling is essential for maintenance of cancer stem cells in myeloid leukaemia. 8
19169242 2009
26
Expansion of Bcr-Abl-positive leukemic stem cells is dependent on Hedgehog pathway activation. 8
18772113 2008
27
Requirement for CD44 in homing and engraftment of BCR-ABL-expressing leukemic stem cells. 8
16998483 2006
28
Chronic myeloid leukemia. 8
14560780 2003
29
Chronic myeloid leukemia--advances in biology and new approaches to treatment. 8
14534339 2003
30
IL-3 receptor signaling is dispensable for BCR-ABL-induced myeloproliferative disease. 8
14500898 2003
31
Mechanisms of autoinhibition and STI-571/imatinib resistance revealed by mutagenesis of BCR-ABL. 8
12654249 2003
32
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. 8
12114534 2002
33
Imatinib mesylate (STI571) in the treatment of relapse of chronic myeloid leukemia after allogeneic stem cell transplantation. 8
11986250 2002
34
Imatinib mesylate--a new oral targeted therapy. 8
11870247 2002
35
BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study. 71
11853795 2002
36
Roots of clinical resistance to STI-571 cancer therapy. 71
11569495 2001
37
Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. 8
11287972 2001
38
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. 8
11287973 2001
39
Targeting the BCR-ABL tyrosine kinase in chronic myeloid leukemia. 8
11287980 2001
40
The story of chronic myeloid leukaemia. 8
10930974 2000
41
Reversibility of acute B-cell leukaemia induced by BCR-ABL1. 8
10615128 2000
42
Chronic myeloid leukemia. 8
10219069 1999
43
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. 8
9310467 1997
44
Suppression of Philadelphia1 leukemia cell growth in mice by BCR-ABL antisense oligodeoxynucleotide. 8
8183938 1994
45
A model of human acute lymphoblastic leukemia in immune-deficient SCID mice. 8
2595371 1989
46
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. 8
2683759 1989
47
Benzene and leukaemia. 8
2667621 1989
48
Rearrangement of the bcr gene in Philadelphia chromosome-negative chronic myeloid leukemia. 8
2875753 1986
49
Comparison of constitutional and tumor-associated 11;22 translocations: nonidentical breakpoints on chromosomes 11 and 22. 8
3461479 1986
50
Heterogeneity of chromosome 22 breakpoint in Philadelphia-positive (Ph+) acute lymphocytic leukemia. 8
3513189 1986
Sources

Variations for Leukemia, Chronic Myeloid

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ClinVar genetic disease variations for Leukemia, Chronic Myeloid:

6 (show all 39)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SETBP1 NM_015559.3(SETBP1): c.2608G> A (p.Gly870Ser) single nucleotide variant Pathogenic rs267607040 18:42531913-42531913 18:44951948-44951948
2 ABL1 NM_005157.6(ABL1): c.707A> T (p.Glu236Val) single nucleotide variant Pathogenic rs387906516 9:133738307-133738307 9:130862920-130862920
3 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 9:5073770-5073770 9:5073770-5073770
4 NRAS NM_002524.5(NRAS): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs121913250 1:115258748-115258748 1:114716127-114716127
5 ABL1 NM_005157.6(ABL1): c.931T> C (p.Phe311Leu) single nucleotide variant Pathogenic rs137853304 9:133748270-133748270 9:130872883-130872883
6 ABL1 NM_005157.6(ABL1): c.1052T> C (p.Met351Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121913457 9:133748391-133748391 9:130873004-130873004
7 CSF3R NM_156039.3(CSF3R): c.1853C> T (p.Thr618Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796065343 1:36933434-36933434 1:36467833-36467833
8 ABL1 NM_005157.6(ABL1): c.706G> A (p.Glu236Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906517 9:133738306-133738306 9:130862919-130862919
9 ABL1 NM_005157.6(ABL1): c.757T> C (p.Tyr253His) single nucleotide variant Pathogenic/Likely pathogenic rs121913461 9:133738357-133738357 9:130862970-130862970
10 ABL1 NM_005157.6(ABL1): c.944C> T (p.Thr315Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913459 9:133748283-133748283 9:130872896-130872896
11 BRAF NM_004333.6(BRAF): c.1742A> G (p.Asn581Ser) single nucleotide variant Likely pathogenic rs121913370 7:140453193-140453193 7:140753393-140753393
12 ABL1 NM_005157.6(ABL1): c.730A> G (p.Met244Val) single nucleotide variant Likely pathogenic rs121913456 9:133738330-133738330 9:130862943-130862943
13 ABL1 NM_005157.6(ABL1): c.742C> G (p.Leu248Val) single nucleotide variant Likely pathogenic rs121913455 9:133738342-133738342 9:130862955-130862955
14 ABL1 NM_005157.6(ABL1): c.749G> A (p.Gly250Glu) single nucleotide variant Likely pathogenic rs121913453 9:133738349-133738349 9:130862962-130862962
15 ABL1 NM_005157.6(ABL1): c.756G> C (p.Gln252His) single nucleotide variant Likely pathogenic rs121913458 9:133738356-133738356 9:130862969-130862969
16 ABL1 NM_005157.6(ABL1): c.756G> T (p.Gln252His) single nucleotide variant Likely pathogenic rs121913458 9:133738356-133738356 9:130862969-130862969
17 ABL1 NM_005157.6(ABL1): c.758A> T (p.Tyr253Phe) single nucleotide variant Likely pathogenic rs121913460 9:133738358-133738358 9:130862971-130862971
18 ABL1 NM_005157.6(ABL1): c.763G> A (p.Glu255Lys) single nucleotide variant Likely pathogenic rs121913448 9:133738363-133738363 9:130862976-130862976
19 ABL1 NM_005157.6(ABL1): c.764A> T (p.Glu255Val) single nucleotide variant Likely pathogenic rs121913449 9:133738364-133738364 9:130862977-130862977
20 ABL1 NM_005157.6(ABL1): c.847T> G (p.Phe283Val) single nucleotide variant Likely pathogenic rs1057519758 9:133747540-133747540 9:130872153-130872153
21 ABL1 NM_005157.6(ABL1): c.951C> A (p.Phe317Leu) single nucleotide variant Likely pathogenic rs121913451 9:133748290-133748290 9:130872903-130872903
22 ABL1 NM_005157.6(ABL1): c.951C> G (p.Phe317Leu) single nucleotide variant Likely pathogenic rs121913451 9:133748290-133748290 9:130872903-130872903
23 ABL1 NM_005157.6(ABL1): c.1064A> G (p.Glu355Gly) single nucleotide variant Likely pathogenic rs121913450 9:133748403-133748403 9:130873016-130873016
24 ABL1 NM_005157.6(ABL1): c.1075T> G (p.Phe359Val) single nucleotide variant Likely pathogenic rs121913452 9:133748414-133748414 9:130873027-130873027
25 ABL1 NM_005157.6(ABL1): c.1187A> G (p.His396Arg) single nucleotide variant Likely pathogenic rs121913454 9:133750356-133750356 9:130874969-130874969
26 ABL1 NM_005157.6(ABL1): c.895G> C (p.Val299Leu) single nucleotide variant Likely pathogenic rs1057519771 9:133747588-133747588 9:130872201-130872201
27 ABL1 NM_005157.6(ABL1): c.943A> G (p.Thr315Ala) single nucleotide variant Likely pathogenic rs1057519772 9:133748282-133748282 9:130872895-130872895
28 ABL1 NM_005157.6(ABL1): c.949T> A (p.Phe317Ile) single nucleotide variant Likely pathogenic rs1057519773 9:133748288-133748288 9:130872901-130872901
29 ABL1 NM_005157.6(ABL1): c.949T> G (p.Phe317Val) single nucleotide variant Likely pathogenic rs1057519773 9:133748288-133748288 9:130872901-130872901
30 ABL1 NM_005157.6(ABL1): c.950T> G (p.Phe317Cys) single nucleotide variant Likely pathogenic rs1057519774 9:133748289-133748289 9:130872902-130872902
31 ABL1 NM_005157.6(ABL1): c.1075T> A (p.Phe359Ile) single nucleotide variant Likely pathogenic rs121913452 9:133748414-133748414 9:130873027-130873027
32 ABL1 NM_005157.6(ABL1): c.1075T> C (p.Phe359Leu) single nucleotide variant Likely pathogenic rs121913452 9:133748414-133748414 9:130873027-130873027
33 ABL1 NM_005157.6(ABL1): c.1076T> G (p.Phe359Cys) single nucleotide variant Likely pathogenic rs1057519775 9:133748415-133748415 9:130873028-130873028
34 CSF3R NM_156039.3(CSF3R): c.1843A> G (p.Thr615Ala) single nucleotide variant Likely pathogenic rs1057519776 1:36933444-36933444 1:36467843-36467843
35 KIT NM_000222.2(KIT): c.1621A> C (p.Met541Leu) single nucleotide variant Benign/Likely benign rs3822214 4:55593464-55593464 4:54727298-54727298
36 BCR NM_004327.4(BCR): c.2699A> G (p.Asn900Ser) single nucleotide variant not provided rs752530462 22:23631800-23631800 22:23289613-23289613
37 BCR NM_004327.4(BCR): c.2707+21G> T single nucleotide variant not provided rs527236142 22:23631829-23631829 22:23289642-23289642
38 BCR NM_004327.4(BCR): c.2750T> A (p.Val917Asp) single nucleotide variant not provided rs527236143 22:23632568-23632568 22:23290381-23290381
39 ABL1 NM_005157.6(ABL1): c.949T> C (p.Phe317Leu) single nucleotide variant not provided rs1057519773 9:133748288-133748288 9:130872901-130872901

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

74
# 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 Chromosom Start End Type Gene Symbol CNVD Disease
1 37133 1 858000 52858291 Copy numbercopy numb erLOH 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 numb erLOH Chronic myeloid leukemia
Sources

Expression for Leukemia, Chronic Myeloid

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

Pathways for Leukemia, Chronic Myeloid

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Pathways related to Leukemia, Chronic Myeloid according to KEGG:

37
# Name Kegg Source Accession
1 Chronic myeloid leukemia hsa05220

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

# Super pathways Score Top Affiliating Genes
1
Endometrial cancer 37
Show member pathways
 12.59 RUNX1 NRAS KIT CRKL BCR ABL1
2
Pathways in cancer 37
12.28 RUNX1 NRAS KIT JAK2 CSF3R CRKL
3
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 12.14 NRAS JAK2 CSF3R ABL1
4
DNA Damage Response 1
Show member pathways
 12.07 MIR20A MIR203A MIR17 ABL1
5
Tyrosine Kinases / Adaptors 4
11.72 KIT JAK2 CRKL BCR ABL1
6
MicroRNAs in cancer 37
11.72 NRAS MIR223 MIR20A MIR203A MIR17 MIR10A
7
Jak-Stat Signaling Pathway (sino) 67
11.57 NRAS JAK2 CSF3R ABL1
8
Parkinsons Disease Pathway 1
11.53 MIR20A MIR17 MIR10A
9
Transcription_Transcription factor Tubby signaling pathways 22
11.05 NRAS JAK2 ABL1
10
LncRNA-mediated mechanisms of therapeutic resistance 1
10.51 UCA1 MEG3 HOTAIR
Sources

GO Terms for Leukemia, Chronic Myeloid

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.83 KIT JAK2 CSF3R CRKL
2 negative regulation of gene expression GO:0010629 9.8 RUNX1 MIR20A MIR17 CRKL
3 protein autophosphorylation GO:0046777 9.71 KIT JAK2 BCR ABL1
4 cellular response to lipopolysaccharide GO:0071222 9.67 MIR20A MIR17 BCR ABL1
5 peptidyl-tyrosine phosphorylation GO:0018108 9.61 KIT JAK2 ABL1
6 negative regulation of cell-cell adhesion GO:0022408 9.51 JAK2 ABL1
7 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.5 MIR20A MIR17 JAK2
8 regulation of myeloid cell differentiation GO:0045637 9.48 RUNX1 CSF3R
9 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.46 MIR20A MIR17
10 positive regulation of phagocytosis GO:0050766 9.43 MIR20A MIR17 BCR
11 gene silencing by miRNA GO:0035195 9.17 MIR223 MIR20A MIR203A MIR17 MIR10A MEG3
12 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.16 MIR20A MIR17
13 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 protein tyrosine kinase activity GO:0004713 9.13 KIT JAK2 ABL1
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.02 MIR223 MIR20A MIR203A MIR17 MIR10A
Sources

Sources for Leukemia, Chronic Myeloid

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
39