CML
MCID: LKM063
MIFTS: 71

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 57 20 73 13 37
Chronic Myeloid Leukemia 12 20 43 58 36 6 42 15
Chronic Myelogenous Leukemia 12 74 20 43 58 73 17
Cml 57 12 20 43 58 73
Chronic Granulocytic Leukemia 12 20 43 58
Leukemia, Philadelphia Chromosome-Positive, Resistant to Imatinib 57 6
Chronic Myeloid Leukaemia 12 15
Myeloid Leukemia, Chronic 12 71
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic 57
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative 71
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative 73
Leukemia, Myelogenous, Chronic, Bcr-Abl Positive 44
Leukemia, Chronic Myeloid, Atypical 73
Cml - Chronic Myelogenous Leukemia 12
Chronic Granulocytic Leukaemia 12
Leukemia, Chronic Myelogenous 57
Chronic Myelogenous Leukaemia 12
Chronic Myelocytic Leukemia 43
Leukemia, Myeloid, Chronic 39
Myeloid Leukemia Chronic 54
Acml 73
Cgl 43

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®:

57 (Updated 05-Mar-2021)
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® 57 608232
KEGG 36 H00004
ICD9CM 34 205.1
MeSH 44 D015464
NCIt 50 C3174
SNOMED-CT 67 154592009
ICD10 via Orphanet 33 C92.1
UMLS via Orphanet 72 C0023473
Orphanet 58 ORPHA521
UMLS 71 C0023473 C1292772

Summaries for Leukemia, Chronic Myeloid

MedlinePlus Genetics : 43 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 myeloid leukemia, is related to atypical chronic myeloid leukemia and leukemia, and has symptoms including angina pectoris, chest pain and edema. 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 Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and bone, and related phenotypes are myeloproliferative disorder and splenomegaly

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

GARD : 20 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 : 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) Acute Myeloid Leukemia with T(9;22)(q34.1;q11.2)

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

(show top 50) (show all 924)
# Related Disease Score Top Affiliating Genes
1 atypical chronic myeloid leukemia 33.3 SETBP1 RUNX1 CSF3R ABL1
2 leukemia 33.0 RUNX1 NRAS KIT HOTAIR CSF3R BRAF
3 philadelphia-negative chronic myeloid leukemia 33.0 BCR ABL1
4 polycythemia vera 32.9 KIT IFNA1 H19 ABL1
5 leukemia, acute myeloid 32.9 UCA1 SETBP1 RUNX1 NRAS MIR223 MIR17
6 myelodysplastic/myeloproliferative neoplasm 32.9 SETBP1 NRAS KIT CSF3R ABL1
7 juvenile myelomonocytic leukemia 32.8 SETBP1 RUNX1 NRAS BRAF
8 myelofibrosis 32.4 SETBP1 RUNX1 MIR223 MEG3 KIT IFNA1
9 myeloma, multiple 32.1 UCA1 NRAS MIR17 MEG3 KIT HOTAIR
10 essential thrombocythemia 32.1 MIR223 KIT IFNA1 BCR ABL1
11 chronic leukemia 32.0 SETBP1 KIT CSF3R BCR ABL1
12 sarcoma 31.9 NRAS KIT IFNA1 HOTAIR BRAF
13 hematologic cancer 31.9 RUNX1 MIR223 MIR20A MIR17 KIT BCR
14 chronic neutrophilic leukemia 31.8 SETBP1 IFNA1 CSF3R ABL1
15 melanoma 31.8 UCA1 NRAS MIR17 MEG3 KIT IFNA1
16 myeloproliferative neoplasm 31.8 RUNX1 NRAS KIT IFNA1 H19 CSF3R
17 gastrointestinal stromal tumor 31.6 KIT HOTAIR BRAF ABL1
18 acute promyelocytic leukemia 31.6 RUNX1 NRAS MIR223 IFNA1 CSF3R
19 lymphoma, non-hodgkin, familial 31.6 NRAS MIR20A MIR17 BRAF BCR
20 diffuse large b-cell lymphoma 31.5 MIR17 MIR10A HULC HOTAIR
21 gastric cancer 31.5 UCA1 NRAS MIR223 MIR20A MIR203A MIR17
22 bladder cancer 31.5 UCA1 NRAS MIR223 MIR203A MIR17 MIR10A
23 thyroid carcinoma 31.4 UCA1 HOTAIR H19 BRAF
24 nasopharyngeal carcinoma 31.4 NRAS MIR17 MEG3 HULC HOTAIR H19
25 thyroid cancer, nonmedullary, 1 31.4 MEG3 HULC HOTAIR H19 BRAF
26 renal cell carcinoma, nonpapillary 31.3 UCA1 NRAS MIR17 KIT IFNA1 HOTAIR
27 childhood leukemia 31.3 RUNX1 BCR ABL1
28 systemic mastocytosis 31.3 NRAS KIT IFNA1
29 skin carcinoma 31.3 NRAS MIR17 KIT IFNA1 BRAF
30 kidney cancer 31.3 MIR20A MIR17 MEG3 IFNA1 HOTAIR H19
31 myeloid leukemia 31.3 RUNX1 NRAS KIT CSF3R BCR ABL1
32 pancreatic cancer 31.2 UCA1 MIR223 MIR20A MIR203A MIR17 MIR10A
33 gastric adenocarcinoma 31.2 NRAS KIT HOTAIR H19 BRAF
34 leukemia, acute lymphoblastic 31.2 RUNX1 MIR223 MIR203A MIR17 KIT CSF3R
35 prostate cancer 31.2 UCA1 MIR223 MIR20A MIR203A MIR17 MIR10A
36 b-lymphoblastic leukemia/lymphoma 31.2 KIT BCR ABL1
37 leukemia, chronic lymphocytic 31.1 NRAS MIR223 MIR20A MIR17 IFNA1 BRAF
38 myelodysplastic syndrome 31.1 SETBP1 RUNX1 NRAS MIR10A MEG3 KIT
39 chronic myelomonocytic leukemia 31.1 SETBP1 RUNX1 NRAS KIT CSF3R
40 esophageal cancer 31.0 UCA1 MIR223 MIR203A MEG3 HULC HOTAIR
41 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 31.0 RUNX1 KIT
42 lung cancer susceptibility 3 31.0 NRAS MIR17 MEG3 HOTAIR H19 BRAF
43 cervical cancer 31.0 UCA1 MIR17 MEG3 HULC HOTAIR H19
44 childhood acute myeloid leukemia 31.0 SETBP1 NRAS KIT
45 medulloblastoma 31.0 NRAS MIR20A MIR17 KIT HOTAIR H19
46 acute leukemia 31.0 SETBP1 RUNX1 KIT CSF3R BCR
47 osteogenic sarcoma 31.0 UCA1 MEG3 HULC HOTAIR H19
48 glioblastoma 30.9 NRAS MEG3 KIT HOTAIR H19 BRAF
49 neuroblastoma 30.9 NRAS MIR17 MEG3 KIT HOTAIR H19
50 aggressive systemic mastocytosis 30.9 RUNX1 KIT IFNA1

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Leukemia, Chronic Myeloid:


angina pectoris, chest pain, edema

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.17 KIT
2 Decreased substrate adherent cell growth GR00193-A-2 9.17 ABL1 KIT
3 Decreased substrate adherent cell growth GR00193-A-3 9.17 BRAF
4 Decreased substrate adherent cell growth GR00193-A-4 9.17 ABL1 BRAF KIT

Drugs & Therapeutics for Leukemia, Chronic Myeloid

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

(show top 50) (show all 360)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
2
tannic acid Approved Phase 4 1401-55-4
3 HH-GV-678 Phase 4
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
6
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
8
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
9
Lorazepam Approved Phase 3 846-49-1 3958
10
Busulfan Approved, Investigational Phase 3 55-98-1 2478
11
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
12
Adenosine Approved, Investigational Phase 3 58-61-7 60961
13
Pentostatin Approved, Investigational Phase 3 53910-25-1 40926 439693
14
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
15
Lenograstim Approved, Investigational Phase 3 135968-09-1
16
Panobinostat Approved, Investigational Phase 2, Phase 3 404950-80-7 6918837
17
Etoposide Approved Phase 3 33419-42-0 36462
18
Idarubicin Approved Phase 3 58957-92-9 42890
19 Orange Approved Phase 2, Phase 3
20
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
21
Azacitidine Approved, Investigational Phase 2, Phase 3 320-67-2 9444
22
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
23
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
24
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
25
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
26
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492 6473866
27
Ponatinib Approved, Investigational Phase 3 943319-70-8 24826799
28
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
29
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
30 Dextrans Phase 2, Phase 3
31 Methylprednisolone Acetate Phase 2, Phase 3
32 Immunosuppressive Agents Phase 3
33 Iron-Dextran Complex Phase 3
34 Antibiotics, Antitubercular Phase 3
35 Anti-Bacterial Agents Phase 3
36 Alkylating Agents Phase 3
37 Etoposide phosphate Phase 3
38 Muromonab-CD3 Phase 3
39 Angiotensin-Converting Enzyme Inhibitors Phase 3
40 Triamcinolone hexacetonide Phase 3
41 triamcinolone acetonide Phase 3
42 Triamcinolone diacetate Phase 3
43 Fluorides Phase 3
44 Antineoplastic Agents, Immunological Phase 2, Phase 3
45 Antimetabolites Phase 3
46 Cyclosporins Phase 3
47 Dermatologic Agents Phase 3
48 Calcineurin Inhibitors Phase 3
49 Folic Acid Antagonists Phase 3
50 Vitamin B Complex Phase 3

Interventional clinical trials:

(show top 50) (show all 911)
# Name Status NCT ID Phase Drugs
1 Low-dose Dasatinib as First-line Treatment for Chronic Myeloid Leukemia Unknown status NCT03216070 Phase 4 Dasatinib 50 MG
2 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
3 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
4 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
5 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
6 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
7 A Phase 4 Study of Nilotinib in Korean Patients With Philadelphia Chromosome-positive Chronic Myeloid Leukemia in Chronic Phase Completed NCT03332511 Phase 4 Nilotinib
8 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
9 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
10 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
11 Gleevec Trial in Patients With Newly Diagnosed Chronic Phase Chronic Myelogenous Leukemia Completed NCT00081926 Phase 4 Gleevec
12 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
13 Study Comparing Standard Dose and High-dose Imatinib Mesylate in Patients With Chronic Phase Ph+ CML Completed NCT00171899 Phase 4 imatinib mesylate
14 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
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 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 Completed NCT02228382 Phase 4 Bosutinib
17 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
18 Glivec in Pediatric Chronic Myeloid Leukemia (CML) Completed NCT00845221 Phase 4 Imatinib mesylate 100 mg (Glivec)
19 Validation of Digital-PCR Analysis Through Programmed Imatinib Interruption in PCR Negative CML Patients (ISAV) Completed NCT01578213 Phase 4 Imatinib mesylate
20 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
21 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
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 Efficacy and the Safety of Flumatinib in Treatment of CML-CP Patients With Ph+ Post Imatinib Failure Recruiting NCT04677439 Phase 4 Flumatinib
24 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
25 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
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 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
30 Allogeneic Stem Cell Transplantation in CML With Partial T Cell Depletion and Preemptive Donor Lymphocyte Infusion. Unknown status NCT00966810 Phase 2, Phase 3
31 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
32 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®)
33 Evaluation of the Therapeutic Effect of Hydroxyurea Pulse Therapy for Chronic Myeloid Leukemia Patients Unknown status NCT03515018 Phase 3 hydroxyurea;Imatinib
34 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
35 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
36 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
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 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
39 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
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 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
42 A Phase III Multi-center, Open-label, Randomized Study of Imatinib Versus Nilotinib in Adult Patients With Newly Diagnosed Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Completed NCT00471497 Phase 3 nilotinib;imatinib
43 A Phase III Study of STI571 Versus Interferon-α (IFN-α) Combined With Cytarabine (Ara-C) in Patients With Newly Diagnosed Previously Untreated Philadelphia Chromosome Positive (Ph+) Chronic Myelogenous Leukemia in Chronic Phase (CML-CP) Completed NCT00333840 Phase 3 imatinib mesilate;interferon-alpha (INF-a);cytarabine (ARA-C)
44 A Phase III Study Comparing Imatinib Standard Dose (400 mg/Day) Versus Imatinib High Dose (800 mg/Day) in the Treatment of Newly Diagnosed High Risk Chronic Myeloid Leukemia in Chronic Phase Completed NCT00514488 Phase 3 STI571 (400 mg/day; or 800 mg/day)
45 Detection of Minimal Residual Disease in Newly Diagnosed Patients With Leukemia and Those Who Undergo a Bone Marrow Transplant Using the Wilms Tumor Suppressor Gene (WT1) as a Marker By RT-PCR Completed NCT00179829 Phase 2, Phase 3
46 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
47 A Phase III, Prospective Randomised Comparison of Imatinib (STI571, Glivec/Gleevec) 400mg Daily Versus Dasatinib 100mg in Patients With Newly-diagnosed Chronic Phase Chronic Myeloid Leukaemia Completed NCT01460693 Phase 3 Imatinib;Dasatinib
48 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
49 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
50 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

Search NIH Clinical Center for Leukemia, Chronic Myeloid

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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 Marrow, Bone, T Cells, Spleen, Endothelial, Nk Cells

Publications for Leukemia, Chronic Myeloid

Articles related to Leukemia, Chronic Myeloid:

(show top 50) (show all 13583)
# Title Authors PMID Year
1
Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. 57 6 61
11423618 2001
2
Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. 57 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. 54 61 57
11739186 2001
4
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 57 61
23222956 2013
5
Loss of the Alox5 gene impairs leukemia stem cells and prevents chronic myeloid leukemia. 57 61
19503090 2009
6
Expansion of Bcr-Abl-positive leukemic stem cells is dependent on Hedgehog pathway activation. 61 57
18772113 2008
7
Requirement for CD44 in homing and engraftment of BCR-ABL-expressing leukemic stem cells. 61 57
16998483 2006
8
Chronic myeloid leukemia. 61 57
14560780 2003
9
Chronic myeloid leukemia--advances in biology and new approaches to treatment. 61 57
14534339 2003
10
Mechanisms of autoinhibition and STI-571/imatinib resistance revealed by mutagenesis of BCR-ABL. 61 57
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. 61 57
12114534 2002
13
Imatinib mesylate (STI571) in the treatment of relapse of chronic myeloid leukemia after allogeneic stem cell transplantation. 57 61
11986250 2002
14
Targeting the BCR-ABL tyrosine kinase in chronic myeloid leukemia. 57 61
11287980 2001
15
Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. 57 61
11287972 2001
16
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. 57 61
11287973 2001
17
Structural mechanism for STI-571 inhibition of abelson tyrosine kinase. 6 54
10988075 2000
18
Chronic myeloid leukemia. 61 57
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. 54 57
9326218 1997
20
Suppression of Philadelphia1 leukemia cell growth in mice by BCR-ABL antisense oligodeoxynucleotide. 61 57
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 57
2683759 1989
22
Rearrangement of the bcr gene in Philadelphia chromosome-negative chronic myeloid leukemia. 61 57
2875753 1986
23
Digital droplet PCR as a predictive tool for successful discontinuation outcome in chronic myeloid leukemia: Is it time to introduce it in the clinical practice? 42 61
33246263 2021
24
Clinical features and prognosis of duplex primary malignant neoplasms involving chronic myeloid leukemia. 61 42
33126344 2020
25
Dual targeting of p53 and c-MYC selectively eliminates leukaemic stem cells. 57
27281222 2016
26
Erosion of the chronic myeloid leukaemia stem cell pool by PPARγ agonists. 57
26331539 2015
27
Axitinib effectively inhibits BCR-ABL1(T315I) with a distinct binding conformation. 6
25686603 2015
28
Regulation of myeloid leukaemia by the cell-fate determinant Musashi. 57
20639863 2010
29
Hedgehog signalling is essential for maintenance of cancer stem cells in myeloid leukaemia. 57
19169242 2009
30
Down-regulation of hsa-miR-10a in chronic myeloid leukemia CD34+ cells increases USF2-mediated cell growth. 61 47
19074828 2008
31
The Btk tyrosine kinase is a major target of the Bcr-Abl inhibitor dasatinib. 57
17684099 2007
32
Expression of the miR-17-92 polycistron in chronic myeloid leukemia (CML) CD34+ cells. 47 61
17284533 2007
33
Chromosomal abnormalities in Philadelphia chromosome-negative metaphases appearing during imatinib mesylate therapy in patients with Philadelphia chromosome-positive chronic myelogenous leukemia in chronic phase. 57
14584073 2003
34
IL-3 receptor signaling is dispensable for BCR-ABL-induced myeloproliferative disease. 57
14500898 2003
35
Presence of the BCR-ABL mutation Glu255Lys prior to STI571 (imatinib) treatment in patients with Ph+ acute lymphoblastic leukemia. 6
12663457 2003
36
Prognostic significance of cytogenetic clonal evolution in patients with chronic myelogenous leukemia on imatinib mesylate therapy. 57
12560227 2003
37
Complete molecular remission in chronic myelogenous leukemia after imatinib therapy. 57
12181416 2002
38
Imatinib mesylate--a new oral targeted therapy. 57
11870247 2002
39
BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study. 6
11853795 2002
40
Roots of clinical resistance to STI-571 cancer therapy. 6
11569495 2001
41
The story of chronic myeloid leukaemia. 57
10930974 2000
42
Reversibility of acute B-cell leukaemia induced by BCR-ABL1. 57
10615128 2000
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. 57
9310467 1997
44
Induction of chronic myelogenous leukemia in mice by the P210bcr/abl gene of the Philadelphia chromosome. 57
2406902 1990
45
A model of human acute lymphoblastic leukemia in immune-deficient SCID mice. 57
2595371 1989
46
Benzene and leukaemia. 57
2667621 1989
47
The site of the breakpoint within the bcr is a prognostic factor in Philadelphia-positive CML patients. 57
3167206 1988
48
Characteristics of accelerated disease in chronic myelogenous leukemia. 57
3162181 1988
49
CML patients in blast crisis have breakpoints localized to a specific region of the BCR. 57
3038213 1987
50
Overlapping cDNA clones define the complete coding region for the P210c-abl gene product associated with chronic myelogenous leukemia cells containing the Philadelphia chromosome. 57
3540951 1986

Variations for Leukemia, Chronic Myeloid

ClinVar genetic disease variations for Leukemia, Chronic Myeloid:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABL1 NM_005157.6(ABL1):c.707A>T (p.Glu236Val) SNV Pathogenic 12625 rs387906516 9:133738307-133738307 9:130862920-130862920
2 ABL1 NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) SNV Pathogenic 12624 rs121913459 9:133748283-133748283 9:130872896-130872896
3 ABL1 NM_005157.6(ABL1):c.931T>C (p.Phe311Leu) SNV Pathogenic 12628 rs137853304 9:133748270-133748270 9:130872883-130872883
4 ABL1 NM_005157.6(ABL1):c.757T>C (p.Tyr253His) SNV Pathogenic 12627 rs121913461 9:133738357-133738357 9:130862970-130862970
5 ABL1 NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) SNV Pathogenic 12626 rs387906517 9:133738306-133738306 9:130862919-130862919
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.949T>A (p.Phe317Ile) SNV Likely pathogenic 376119 rs1057519773 9:133748288-133748288 9:130872901-130872901
8 ABL1 NM_005157.6(ABL1):c.764A>T (p.Glu255Val) SNV Likely pathogenic 376091 rs121913449 9:133738364-133738364 9:130862977-130862977
9 ABL1 NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) SNV Likely pathogenic 12626 rs387906517 9:133738306-133738306 9:130862919-130862919
10 ABL1 NM_005157.6(ABL1):c.1187A>G (p.His396Arg) SNV Likely pathogenic 376097 rs121913454 9:133750356-133750356 9:130874969-130874969
11 ABL1 NM_005157.6(ABL1):c.742C>G (p.Leu248Val) SNV Likely pathogenic 376085 rs121913455 9:133738342-133738342 9:130862955-130862955
12 ABL1 NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys) SNV Likely pathogenic 376124 rs1057519775 9:133748415-133748415 9:130873028-130873028
13 ABL1 NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe) SNV Likely pathogenic 376089 rs121913460 9:133738358-133738358 9:130862971-130862971
14 ABL1 NM_005157.6(ABL1):c.756G>T (p.Gln252His) SNV Likely pathogenic 376088 rs121913458 9:133738356-133738356 9:130862969-130862969
15 CSF3R NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala) SNV Likely pathogenic 376125 rs1057519776 1:36933444-36933444 1:36467843-36467843
16 ABL1 NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile) SNV Likely pathogenic 376122 rs121913452 9:133748414-133748414 9:130873027-130873027
17 ABL1 NM_005157.6(ABL1):c.951C>A (p.Phe317Leu) SNV Likely pathogenic 376093 rs121913451 9:133748290-133748290 9:130872903-130872903
18 ABL1 NM_005157.6(ABL1):c.847T>G (p.Phe283Val) SNV Likely pathogenic 376092 rs1057519758 9:133747540-133747540 9:130872153-130872153
19 CSF3R NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) SNV Likely pathogenic 208339 rs796065343 1:36933434-36933434 1:36467833-36467833
20 ABL1 NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly) SNV Likely pathogenic 376095 rs121913450 9:133748403-133748403 9:130873016-130873016
21 ABL1 NM_005157.6(ABL1):c.895G>C (p.Val299Leu) SNV Likely pathogenic 376117 rs1057519771 9:133747588-133747588 9:130872201-130872201
22 ABL1 NM_005157.6(ABL1):c.749G>A (p.Gly250Glu) SNV Likely pathogenic 376086 rs121913453 9:133738349-133738349 9:130862962-130862962
23 NRAS NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) SNV Likely pathogenic 40469 rs121913250 1:115258748-115258748 1:114716127-114716127
24 ABL1 NM_005157.6(ABL1):c.949T>G (p.Phe317Val) SNV Likely pathogenic 376120 rs1057519773 9:133748288-133748288 9:130872901-130872901
25 ABL1 NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) SNV Likely pathogenic 12624 rs121913459 9:133748283-133748283 9:130872896-130872896
26 ABL1 NM_005157.6(ABL1):c.763G>A (p.Glu255Lys) SNV Likely pathogenic 376090 rs121913448 9:133738363-133738363 9:130862976-130862976
27 ABL1 NM_005157.6(ABL1):c.757T>C (p.Tyr253His) SNV Likely pathogenic 12627 rs121913461 9:133738357-133738357 9:130862970-130862970
28 ABL1 NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu) SNV Likely pathogenic 376123 rs121913452 9:133748414-133748414 9:130873027-130873027
29 ABL1 NM_005157.6(ABL1):c.1075T>G (p.Phe359Val) SNV Likely pathogenic 376096 rs121913452 9:133748414-133748414 9:130873027-130873027
30 ABL1 NM_005157.6(ABL1):c.951C>G (p.Phe317Leu) SNV Likely pathogenic 376094 rs121913451 9:133748290-133748290 9:130872903-130872903
31 ABL1 NM_005157.6(ABL1):c.943A>G (p.Thr315Ala) SNV Likely pathogenic 376118 rs1057519772 9:133748282-133748282 9:130872895-130872895
32 BRAF NM_001374258.1(BRAF):c.1862A>G (p.Asn621Ser) SNV Likely pathogenic 177776 rs121913370 7:140453193-140453193 7:140753393-140753393
33 ABL1 NM_005157.6(ABL1):c.756G>C (p.Gln252His) SNV Likely pathogenic 376087 rs121913458 9:133738356-133738356 9:130862969-130862969
34 ABL1 NM_005157.6(ABL1):c.730A>G (p.Met244Val) SNV Likely pathogenic 376084 rs121913456 9:133738330-133738330 9:130862943-130862943
35 ABL1 NM_005157.6(ABL1):c.950T>G (p.Phe317Cys) SNV Likely pathogenic 376121 rs1057519774 9:133748289-133748289 9:130872902-130872902
36 SETBP1 NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) SNV not provided 1035 rs267607040 18:42531913-42531913 18:44951948-44951948
37 BCR NM_004327.4(BCR):c.2750T>A (p.Val917Asp) SNV not provided 143222 rs527236143 22:23632568-23632568 22:23290381-23290381
38 BCR NM_004327.4(BCR):c.2707+21G>T SNV not provided 143221 rs527236142 22:23631829-23631829 22:23289642-23289642
39 BCR NM_004327.4(BCR):c.2699A>G (p.Asn900Ser) SNV not provided 143220 rs752530462 22:23631800-23631800 22:23289613-23289613
40 JAK2 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV not provided 14662 rs77375493 9:5073770-5073770 9:5073770-5073770
41 ABL1 NM_005157.6(ABL1):c.949T>C (p.Phe317Leu) SNV not provided 376352 rs1057519773 9:133748288-133748288 9:130872901-130872901
42 KIT NM_000222.3(KIT):c.1621A>C SNV not provided 41599 rs3822214 4:55593464-55593464 4:54727298-54727298

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 CCDC6 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:

# Name GO ID Score Top Affiliating Genes
1 regulation of T cell differentiation GO:0045580 9.4 BRAF ABL1
2 regulation of myeloid cell differentiation GO:0045637 9.37 RUNX1 CSF3R
3 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.32 MIR20A MIR17
4 alpha-beta T cell differentiation GO:0046632 9.26 BRAF ABL1
5 gene silencing by miRNA GO:0035195 9.17 MIR223 MIR20A MIR203A MIR17 MIR10A MEG3
6 myeloid progenitor cell differentiation GO:0002318 9.16 KIT BRAF
7 positive regulation of pulmonary blood vessel remodeling GO:1905111 8.96 MIR20A MIR17

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

# Name GO ID Score Top Affiliating Genes
1 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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