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MDS
MCID: MYL009
MIFTS: 70

Myelodysplastic Syndrome (MDS)

Categories: Blood diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Myelodysplastic Syndrome

About this section

MalaCards integrated aliases for Myelodysplastic Syndrome:

Name: Myelodysplastic Syndrome 56 12 58 73 36 29 6 15 37 39 17 71
Myelodysplastic Syndromes 74 52 54 42 43 15 32
Myelodysplasia 52 29 6
Mds 56 52 73
Myelodysplastic Syndrome, Somatic 56 13
Myelodysplastic Syndrome, Susceptibility to, Included 56
Myelodysplastic Syndrome, Susceptibility to 56
Myelodysplastic Syndrome Included 56

Characteristics:

Orphanet epidemiological data:

58
myelodysplastic syndrome
Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (United States); Age of onset: All ages;

HPO:

31
myelodysplastic syndrome:
Inheritance somatic mutation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0050908
OMIM 56 614286
KEGG 36 H01481
MeSH 43 D009190
ICD10 32 D46 D46.6 D46.9
MESH via Orphanet 44 D009190
UMLS via Orphanet 72 C0026985 C3463824
Orphanet 58 ORPHA52688
MedGen 41 C3463824
UMLS 71 C2713368 C3463824
Sources

Summaries for Myelodysplastic Syndrome

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MedlinePlus : 42 Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. Many of them die in the bone marrow. This means that you do not have enough healthy cells, which can lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. If you have symptoms, they may include Shortness of breath Weakness or feeling tired Skin that is paler than usual Easy bruising or bleeding Pinpoint spots under the skin caused by bleeding Fever or frequent infections Myelodysplastic syndromes are rare. People at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. Treatment options include transfusions, drug therapy, chemotherapy, and blood or bone marrow stem cell transplants. NIH: National Cancer Institute

MalaCards based summary : Myelodysplastic Syndrome, also known as myelodysplastic syndromes, is related to myelodysplastic/myeloproliferative neoplasm and juvenile myelomonocytic leukemia. An important gene associated with Myelodysplastic Syndrome is GATA2 (GATA Binding Protein 2), and among its related pathways/superpathways are Spliceosome and Signaling pathways regulating pluripotency of stem cells. The drugs Micafungin and Radium Ra 223 dichloride have been mentioned in the context of this disorder. Affiliated tissues include Placenta and Umbilical Cord, and related phenotypes are myelodysplasia and neoplasm

Disease Ontology : 12 A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.

NIH Rare Diseases : 52 Myelodysplastic syndromes (MDS) are a group of blood disorders characterized by abnormal development of blood cells within the bone marrow. People with MDS have abnormally low blood cell levels (low blood counts ). Signs and symptoms may include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. In some people with MDS, the condition progresses to bone marrow failure or develops into acute leukemia . MDS develops when a cell with a mutation replicates, and the resulting copies begin to predominate in the bone marrow and suppress healthy stem cells . The mutation may result from a genetic predisposition , or from injury to the DNA caused by an exposure such as chemotherapy or radiation. In many people with MDS there is no obvious exposure or cause. Standard treatments for people with MDS and decreased blood counts are constantly changing. The main components of care include transfusions of the types of cells that are deficient and treatment of infections. A stem cell transplant may cure the disease, but it is only indicated in selected cases.

OMIM : 56 Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011). (614286)

KEGG : 36 Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, and a risk of progression to acute myeloid leukemia. Currently, there are a few FDA-approved drugs for treatment of MDS none of which are curative. Allogeneic stem cell transplantation (ASCT) is the only curative therapy. But many MDS patients have been ineligible for transplants, since the median age at diagnosis for MDS is 75 years. Sequencing of MDS genomes has identified mutations in genes implicated in RNA splicing, DNA modification, chromatin regulation, and cell signaling.

UniProtKB/Swiss-Prot : 73 Myelodysplastic syndrome: A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML).

Wikipedia : 74 Myelodysplastic syndromes (MDS) are a group of cancers in which immature blood cells in the bone marrow... more...

Sources

Related Diseases for Myelodysplastic Syndrome

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Diseases related to Myelodysplastic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1524)
# Related Disease Score Top Affiliating Genes
1 myelodysplastic/myeloproliferative neoplasm 34.8 U2AF1 TET2 SETBP1 NRAS HRAS DNMT3A
2 juvenile myelomonocytic leukemia 34.5 U2AF1 TP53 TET2 SETBP1 NRAS HRAS
3 aplastic anemia 34.2 U2AF1 TP53 TET2 NRAS MIR34A GATA2
4 refractory anemia 33.9 TET2 SF3B1 ASXL1
5 myeloid leukemia 33.8 U2AF1 TP53 TET2 NRAS MECOM IDH2
6 myeloproliferative neoplasm 33.7 U2AF1 TET2 NRAS MIR10A IDH1 HRAS
7 refractory cytopenia with multilineage dysplasia 33.6 U2AF1 TET2 SF3B1 SETBP1 GATA2 ASXL1
8 leukemia, acute myeloid 33.6 U2AF1 TP53 TET2 SF3B1 SETBP1 NRAS
9 chronic myelomonocytic leukemia 33.4 U2AF1 TP53 TET2 SF3B1 SETBP1 NRAS
10 leukemia 33.3 U2AF1 TP53 NRAS MECOM HRAS GATA2
11 myelofibrosis 32.6 U2AF1 TP53 TET2 SETBP1 MEG3 IDH2
12 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 32.4 TET2 SF3B1
13 essential thrombocythemia 32.4 U2AF1 TP53 TET2 IDH2 IDH1 ASXL1
14 polycythemia vera 32.4 TET2 IDH2 IDH1 DNMT3A ASXL1
15 thrombocytosis 32.1 U2AF1 TET2 ASXL1
16 myeloma, multiple 32.0 U2AF1 TP53 NRAS MEG3 IDH2 IDH1
17 chronic leukemia 32.0 U2AF1 TET2 SETBP1 DNMT3A ASXL1
18 leukemia, chronic lymphocytic 31.9 U2AF1 TP53 SF3B1 NRAS MIR378A MIR34A
19 systemic mastocytosis 31.8 TET2 NRAS IDH2 IDH1 DNMT3A ASXL1
20 leukemia, acute lymphoblastic 31.8 U2AF1 MIR127 HRAS GNB1 GATA2
21 chronic neutrophilic leukemia 31.7 U2AF1 TET2 SETBP1 ASXL1
22 acute erythroid leukemia 31.7 TP53 GATA2
23 leukemia, chronic myeloid 31.7 U2AF1 TP53 SETBP1 NRAS MIR10A MEG3
24 hematologic cancer 31.6 U2AF1 TP53 MIR34A MIR127 MECOM HRAS
25 atypical chronic myeloid leukemia 31.6 U2AF1 TET2 SETBP1 ASXL1
26 medulloblastoma 31.5 TP53 NRAS MIR34A IDH1 HRAS DNMT3A
27 glioblastoma multiforme 31.5 TP53 NRAS MIR34A IDH2 IDH1 HRAS
28 brain cancer 31.4 TP53 NRAS MECOM IDH2 IDH1 HRAS
29 monoclonal gammopathy of uncertain significance 31.4 U2AF1 TP53 HRAS
30 cytogenetically normal acute myeloid leukemia 31.4 IDH2 IDH1
31 melanoma, uveal 31.2 U2AF1 TP53 SF3B1 NRAS HRAS ASXL1
32 grade iii astrocytoma 31.1 TP53 MIR10A IDH2 IDH1
33 suppression of tumorigenicity 12 31.1 U2AF1 TP53 IDH1 HRAS
34 squamous cell papilloma 31.0 TP53 HRAS
35 wilms tumor 1 31.0 U2AF1 TP53 MEG3 HRAS
36 thyroid carcinoma 31.0 TP53 NRAS HRAS
37 pancreas disease 30.9 U2AF1 TP53 MIR34A MIR127 HRAS
38 glioma 30.4 TP53 MIR34A MEG3 IDH2 IDH1
39 intrahepatic cholangiocarcinoma 30.4 TP53 MIR127 IDH2 IDH1
40 hepatocellular carcinoma 30.3 TP53 NRAS MIR34A MIR127 MEG3 MECOM
41 melanoma 30.3 TP53 SF3B1 NRAS MIR34A MIR127 MEG3
42 bladder cancer 29.8 TP53 NRAS MIR34A MIR127 MIR10A MEG3
43 cervical cancer 29.3 TP53 MIR34A MIR127 MIR10A MEG3 HRAS
44 myelodysplastic syndrome with excess blasts 12.7
45 chromosome 5q deletion syndrome 12.5
46 unclassified myelodysplastic syndrome 12.4
47 acute myeloid leukemia and myelodysplastic syndromes related to radiation 12.4
48 myelodysplastic syndrome with single lineage dysplasia 12.4
49 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay 12.3
50 therapy related acute myeloid leukemia and myelodysplastic syndrome 12.3

Graphical network of the top 20 diseases related to Myelodysplastic Syndrome:



Diseases related to Myelodysplastic Syndrome
Sources

Symptoms & Phenotypes for Myelodysplastic Syndrome

About this section

Human phenotypes related to Myelodysplastic Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 myelodysplasia 31 HP:0002863

Clinical features from OMIM:

614286

MGI Mouse Phenotypes related to Myelodysplastic Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.5 ASXL1 HRAS IDH2 MECOM NRAS TET2
2 skeleton MP:0005390 9.28 ASXL1 DNMT3A HRAS IDH1 IDH2 MECOM
Sources

Drugs & Therapeutics for Myelodysplastic Syndrome

About this section

Drugs for Myelodysplastic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 571)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
2
Radium Ra 223 dichloride Approved, Investigational Phase 4 444811-40-9
3
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
4
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
7
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
8
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
9
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
10 Calcium, Dietary Phase 4
11 Calciferol Phase 4
12 Vitamin D2 Phase 4
13 Ergocalciferols Phase 4
14 Hydroxycholecalciferols Phase 4
15
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 209810-58-2, 11096-26-7
16
Iron Approved, Experimental Phase 2, Phase 3 7439-89-6, 15438-31-0 23925 27284
17
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
18
Aldesleukin Approved Phase 3 110942-02-4, 85898-30-2
19
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
20
Iodine Approved, Investigational Phase 3 7553-56-2 807
21
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
22
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
23
Nystatin Approved, Vet_approved Phase 3 1400-61-9 11953884
24
deoxycholic acid Approved Phase 3 83-44-3 222528
25
Piperacillin Approved Phase 3 66258-76-2 43672
26
Tazobactam Approved Phase 3 89786-04-9 123630
27
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
28
Acyclovir Approved Phase 3 59277-89-3 2022
29
Ribavirin Approved Phase 3 36791-04-5 37542
30
Palivizumab Approved, Investigational Phase 3 188039-54-5
31
Dalteparin Approved Phase 3 9005-49-6
32
Captopril Approved Phase 3 62571-86-2 44093
33
Amsacrine Approved, Investigational Phase 3 51264-14-3 2179
34
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
35
Vancomycin Approved Phase 3 1404-90-6 441141 14969
36
Perphenazine Approved Phase 3 58-39-9 4748
37
Baclofen Approved Phase 3 1134-47-0 2284
38
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
39
Amitriptyline Approved Phase 3 50-48-6 2160
40
Bleomycin Approved, Investigational Phase 3 11056-06-7 5360373
41
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
42
Procarbazine Approved, Investigational Phase 3 671-16-9 4915
43
Vinblastine Approved Phase 3 865-21-4 13342 241903
44
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
45
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
46
Ofloxacin Approved Phase 3 82419-36-1 4583
47
Idarubicin Approved Phase 3 58957-92-9 42890
48
Romidepsin Approved, Investigational Phase 3 128517-07-7 5352062
49
Nicotinamide Approved, Investigational Phase 2, Phase 3 98-92-0 936
50
Cladribine Approved, Investigational Phase 3 4291-63-8 20279

Interventional clinical trials:

(show top 50) (show all 2082)
# Name Status NCT ID Phase Drugs
1 A Randomized, Controlled, Multi-center Collaborative Phase â…£ Study to Evaluate the Safety and Efficacy of Decitabine in Myelodysplastic Syndrome Unknown status NCT02013102 Phase 4 Decitabine Injection
2 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4 decitabine
3 Treatment Plan for Hematologic Malignancies Using Intravenous Busulfan and Cyclophosphamide Instead of Total Boby Irradiation (TBI) and Cyclophosphamide to Examine Results, Success and Side Effects of Treatment With Chemotherapy Only, as a Preparative Therapy for Patients With Cord Blood Transplants Unknown status NCT01339988 Phase 4 Busulfan/Cyclophosphamide
4 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
5 SMD/ATG-CSA: Antithymocyte Globulin and Cyclosporine in Treating Low Risk Patients With Myelodysplastic Syndrome Completed NCT00488436 Phase 4 Antithymocyte globulin;Cyclosporine
6 A One-year, Open-label, Single Arm, Multi-center Trial Evaluating the Efficacy and Safety of Oral ICL670 in Patients Diagnosed With Low and INT-1 Risk Myelodysplastic Syndrome (MDS) and Transfusion-dependent Iron Overload Completed NCT00481143 Phase 4 ICL670/Deferasirox
7 1 Year, Open-label Multicenter Evaluation of Efficacy, Safety of Deferasirox in Patients MDS, Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
8 A Prospective Open-Label Study of the Effectiveness of Epoetin Beta for Treating Anemic Patients With Low/Intermediate-1-Risk Myelodysplastic Syndrome (MDS) Completed NCT02145026 Phase 4 Epoetin beta
9 A Phase IV , Multicenter ,Open Label ,Non Comparative ,Investigator Initiated Study , Evaluating the Effect of Exjade on Oxidative Stress in Low Risk Myelodysplastic Syndrome Patients With Iron Over Load Completed NCT00452660 Phase 4 Exjade
10 A Randomized Open-Label Trial of Posaconazole Versus Micafungin for Prophylaxis Against Invasive Fungal Infections During Neutropenia in Patients Undergoing Chemotherapy for Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia or Myelodysplastic Syndrome Completed NCT01200355 Phase 4 micafungin;posaconazole
11 FLAG-IDA Chemotherapy Induction Follow by Intensive Chemotherapy Postremission +/- Autologous Hemopoietic Stem Cell Transplantation or Bone Marrow Transplantation in Patients With High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia. Completed NCT00487448 Phase 4 Fludarabine;Cytarabine;G-CSF;Idarubicin
12 A Phase 4, Open-Label, Single-Arm Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Subcutaneous Azacitidine in Adult Taiwanese Subjects With Higher-Risk Myelodysplastic Syndromes. Completed NCT01201811 Phase 4 Azacitidine
13 A Study of Magnetic Resonance Imaging Assessment of Cardiac and Liver Iron Load in Patients With Haemoglobinopathies, Myelodysplastic Syndromes (MDS) or Other Anaemias Treated With Exjade® (Deferasirox) (The MILE Study) Completed NCT00673608 Phase 4 deferasirox
14 Biological Predictive Factors of Response to Erythropoiesis Stimulating Agent (ESA) in Low Risk Myelodysplastic Syndromes (MDS) Patients Completed NCT03598582 Phase 4 Epoetin Zeta
15 Busulfan Dose Escalation Study Based on AUC in the Setting of Busulfan/Fludarabine Conditioning Prior to Allogeneic Hematopoietic Cell Transplantation (HCT) Completed NCT00361140 Phase 4 Busulfan;Fludarabine
16 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
17 Pharmacokinetics of Posaconazole (Noxafil®) as Prophylaxis for Invasive Fungal Infections Completed NCT02805946 Phase 4 posaconazole
18 Study 200170: A Rollover Study to Provide Continued Treatment With Eltrombopag Recruiting NCT01957176 Phase 4 ELT
19 A Phase 4 Long-term Follow-up Study to Define the Safety Profile of Radium-223 Dichloride Recruiting NCT02312960 Phase 4
20 Treatment With Thrombopoietin Mimetic Plus Immunosuppressive Therapy in Egyptian Patients With Aplastic Anaemia Recruiting NCT03896971 Phase 4 Combination of thrombopoietin mimetic and cyclosporin A
21 Incidence of Invasive Fungal Disease in Patients Receiving Immunosuppressive Therapy, Intensive Chemotherapy or Reduced Intensity Haematopoietic Stem Cell Transplantation on Posaconazole Prophylaxis Active, not recruiting NCT02875743 Phase 4 Posaconazole
22 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Enrolling by invitation NCT03176849 Phase 4
23 The Efficacy and Safety of CDA-2 for the Treatment of IPSS Lower/Intermediate-risk Myelodysplastic Syndrome Patients: a Multi-centered Prospective Open Study Not yet recruiting NCT03335943 Phase 4 CDA-2 (Cell Differentiation Agent 2)
24 A Multicenter, Randomized, Comparative Study of Different Deferasirox Administration Regimens on Gastrointestinal (GI) Tolerability in Low or Intermediate (Int-1) Risk MDS Myelodysplastic Syndrome Patients With Transfusional Iron Overload. Terminated NCT01326845 Phase 4 Deferasirox
25 A Randomized, Open-label, Parallel-Group Study Comparing the Efficacy and Safety of DACOGEN (Decitabine) for Injection and VIDAZA (Azacitidine) for Injection In Subjects With Intermediate or High Risk Myelodysplastic Syndromes (MDS) Terminated NCT01011283 Phase 4 decitabine;azacitidine
26 Transfusion Effects in Myelodysplastic Patients: Limiting Exposure (Temple) Withdrawn NCT00202371 Phase 4
27 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
28 The Effect of the Nutritional Supplements: Ultra Q10 and L-carnitine on the Clinical Course of Myelodysplastic Syndrome Unknown status NCT02042482 Phase 2, Phase 3
29 Decitabine Augments for Post Allogeneic Stem Cell Transplantation in Patients With Acute Myeloid Leukemia and Myelodysplastic Syndrome Unknown status NCT01809392 Phase 2, Phase 3 decitabine
30 Autologous Peripheral Blood Stem Cell Transplantation (PSCT) Versus a Second Intensive Consolidation Course After a Common Induction and Consolidation Course in Patients With Bad Prognosis Myelodysplastic Syndromes (MDS) and Acute Myelogenous Leukemia Secondary (SAML) to MDS of More Acute Than 6 Months Duration Unknown status NCT00002926 Phase 3 cytarabine;etoposide;idarubicin
31 Phase 2/3 Study of Efficacy Study of CHG Regimen vs Decitabine to Treat Higher-risk MDS Unknown status NCT01417767 Phase 2, Phase 3 CHG regimen;5-aza-deoxycytidine
32 REGIME: A Randomised Controlled Trial of Prolonged Treatment With Darbepoetin Alpha, With or Without Recombinant Human Granulocyte Colony Stimulating Factor, Versus Best Supportive Care in Patients With Low-risk Myelodysplastic Syndromes (MDS). Unknown status NCT01196715 Phase 3 Darbepoetin alpha;Filgrastim
33 Prospective Study of the Diagnosis and Treatment of Myelodysplastic Syndromes (MDS) in Childhood Unknown status NCT00047268 Phase 3 cytarabine;mercaptopurine
34 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
35 A Randomised Controlled Trial of Prolonged Treatment With Darbepoetin Alpha With or Without Recombinant Human Granulocyte Colony Stimulating Factor (G-CSF) Versus Best Supportive Care in Patients With Low-Risk Myelodysplastic Syndromes Unknown status NCT00234143 Phase 2, Phase 3 Darbepoetin
36 A Randomised Study Comparing an Oral Regimen (Idarubicin and Etoposide) With an Intravenous Regimen (MAE) for Consolidation in Patients Over 55 Years With Acute Myeloid Leukaemia in First Complete Remission Unknown status NCT00003602 Phase 3 cytarabine;etoposide;idarubicin;mitoxantrone hydrochloride
37 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
38 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
39 Security and Effectiveness of Autologous Bone Marrow Stem Cell Transplantation to Avoid Amputations in Patients With Limb-threatening Ischemia: A Multicentric Randomized Placebo-controlled Double-blind Study Unknown status NCT00434616 Phase 2, Phase 3
40 A Decisional Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Naive to Iron Chelation Therapy. A Comparative Randomized Prospective Study Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
41 Treatment of Imminent Haematological Relapse in Patients With AML and MDS Following Allogeneic Stem Cell Transplantation With 5-azacitidine (Vidaza®) Completed NCT00422890 Phase 3 5-Azacytidin
42 Antithymocyte Globulin (ATG) and Cyclosporine (CSA) to Treat Patients With Myelodysplastic Syndrome (MDS). A Randomized Trial Comparing ATG + CSA With Best Supportive Care Completed NCT00004208 Phase 3 ATG + CSA
43 A Randomized, Open-label, Phase III Trial of Decitabine (5-aza-2'Deoxycytidine) Versus Supportive Care in Adults With Advanced-stage Myelodysplastic Syndrome Completed NCT00043381 Phase 3 decitabine (5-aza-2'deoxycytidine)
44 The Unrelated Donor Marrow Transplantation Trial Completed NCT00003187 Phase 2, Phase 3 cyclophosphamide;cyclosporine;cytarabine;methotrexate;methylprednisolone
45 Single Arm, Companion Study to Myelodysplastic Syndrome (MDS) 20090160 Using Darbepoetin Alfa for the Treatment of Anaemic Subjects With Myelodysplastic Syndrome Completed NCT02175277 Phase 3 Darbepoetin Alfa
46 An Open-label, Multi-center, Phase IIIb Study for Decitabine in Patients With Myelodysplastic Syndrome (MDS) Completed NCT01751867 Phase 3 Decitabine at 15 mg/m2;Decitabine at 20 mg/m2
47 Phase 3 Study of US-ATG-F to Prevent Moderate to Severe Chronic GVHD in Adult Acute Myeloid Leukemia, Acute Lymphoid Leukemia, and Myelodysplastic Syndrome Patients After Allogeneic Stem Cell Transplantation From Unrelated Donors Completed NCT01295710 Phase 3
48 A Phase III Randomized Study Comparing Busulfan-Total Body Irradiation Versus Cyclophosphamide-Total Body Irradiation Preparative Regimen in Patients With Advanced Myelodysplastic Syndrome (MDS) or MDS-Related Acute Myeloid Leukemia (AML) Undergoing HLA-Identical Sibling Peripheral Blood Stem Cell Transplantation, (A BMT Study) Completed NCT00005866 Phase 3 busulfan;cyclophosphamide;cyclosporine;methotrexate
49 Phase III Evaluation of EPO With or Without G-CSF Versus Supportive Therapy Alone in the Treatment of Myelodysplastic Syndromes Completed NCT00003138 Phase 3
50 IDA VS MTZ IN INDUCTION AND INTENSIFICATION TREATMENT OF AML OR MDS IN CHILDREN, A PHASE III RANDOMIZED STUDY Completed NCT00002517 Phase 3 cytarabine;daunorubicin hydrochloride;dexamethasone;etoposide;idarubicin;mitoxantrone hydrochloride;thioguanine

Search NIH Clinical Center for Myelodysplastic Syndrome

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


decitabine

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Myelodysplastic Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Myelodysplastic Syndrome:
Co-infusion of umbilical cord blood and haploidentical CD34+ cells for hematological diseases
NiCord, umbilical cord blood-derived stem/progenitor cells for hemotological diseases
Hemacord, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
StemEx, umbilical cord blood stem/progenitor cells for hematological diseases
Hematopoietic stem cells for treatment of hematologic malignancies
Umbilical cord/placenta-derived mesenchymal stem cells for myelodysplastic syndrome
Embryonic/Adult Cultured Cells Related to Myelodysplastic Syndrome:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD) PMIDs: 9828244
Umbilical cord blood-derived stem cells (NiCord) PMIDs: 22198152
Umbilical cord blood stem/progenitor cells (Stemex) PMIDs: 18209724
Placenta-derived mesenchymal stem cells (family)
Bone marrow-derived hematopoietic stem cells
Peripheral blood-derived hematopoietic stem cells
Umbilical cord-derived mesenchymal stem cells (family)

Cochrane evidence based reviews: myelodysplastic syndromes

Sources

Genetic Tests for Myelodysplastic Syndrome

About this section

Genetic tests related to Myelodysplastic Syndrome:

# Genetic test Affiliating Genes
1 Myelodysplastic Syndrome 29 ASXL1 GATA2 SF3B1 TET2
2 Myelodysplasia 29
Sources

Anatomical Context for Myelodysplastic Syndrome

About this section

MalaCards organs/tissues related to Myelodysplastic Syndrome:

40
Myeloid, Bone, Bone Marrow, T Cells, B Cells, Neutrophil, Breast
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Myelodysplastic Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Placenta Chorionic Villus Chorionic Mesenchymal Stromal Cells Potential therapeutic candidate
2 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
3 Blood Cord Blood Mesenchymal Stem Cells Potential therapeutic candidate
Sources

Publications for Myelodysplastic Syndrome

About this section

Articles related to Myelodysplastic Syndrome:

(show top 50) (show all 16451)
# Title Authors PMID Year
1
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 61 56 6
21892162 2011
2
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. 61 56
21995386 2011
3
Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. 61 56
21415852 2011
4
Mutation in TET2 in myeloid cancers. 61 56
19474426 2009
5
Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome. 61 6
14576046 2004
6
The efficacy and toxicity of the CHG priming regimen (low-dose cytarabine, homoharringtonine, and G-CSF) in higher risk MDS patients relapsed or refractory to decitabine. 61 42
31559495 2019
7
The impact of iron chelation therapy on patients with lower/intermediate IPSS MDS and the prognostic role of elevated serum ferritin in patients with MDS and AML: A meta-analysis. 61 42
31577751 2019
8
Guadecitabine (SGI-110): an investigational drug for the treatment of myelodysplastic syndrome and acute myeloid leukemia. 61 42
31510809 2019
9
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6
27108799 2016
10
Effect of mutation order on myeloproliferative neoplasms. 56
25671252 2015
11
Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 6
25485910 2015
12
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 6
21670465 2011
13
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 6
21765025 2011
14
Distinctive microRNA expression profiles in CD34+ bone marrow cells from patients with myelodysplastic syndrome. 61 46
21150891 2011
15
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. 6
21242295 2011
16
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 6
20550934 2010
17
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. 6
20040766 2010
18
Clinical advances in hypomethylating agents targeting epigenetic pathways. 54 61
20384584 2010
19
WT1 expression levels at diagnosis could predict long-term time-to-progression in adult patients affected by acute myeloid leukaemia and myelodysplastic syndromes. 54 61
20085581 2010
20
GSTT1 and GSTM1 polymorphisms and myelodysplastic syndrome risk: a systematic review and meta-analysis. 54 61
19816935 2010
21
Effects of a novel DNA methyltransferase inhibitor zebularine on human breast cancer cells. 54 61
19459041 2010
22
[Curative effect of low dose cytarabine and aclarubin in combination with granulocyte colony-stimulating factor priming (CAG regimen) on patients with the intermediate and high-risk myelodysplastic syndrome]. 54 61
20448361 2010
23
Novel approaches for myelodysplastic syndromes: beyond hypomethylating agents. 54 61
20178141 2010
24
Significant inverse correlation of microRNA-150/MYB and microRNA-222/p27 in myelodysplastic syndrome. 54 61
19615744 2010
25
Significance of JAK2 and TET2 mutations in myelodysplastic syndromes. 54 61
20171768 2010
26
Biased usage of BV gene families of T-cell receptors of WT1 (Wilms' tumor gene)-specific CD8+ T cells in patients with myeloid malignancies. 54 61
20132220 2010
27
Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia. 54 61
20064152 2010
28
Treatment with mycophenolate mofetil followed by recombinant human erythropoietin in patients with low-risk myelodysplastic syndromes resistant to erythropoietin treatment. 54 61
20139394 2010
29
Expression of WT1 gene in multiple myeloma patients at diagnosis: is WT1 gene expression a useful marker in multiple myeloma? 54 61
20132661 2010
30
Platelet-derived growth factor beta receptor (PDGFRB) gene is rearranged in a significant percentage of myelodysplastic syndromes with normal karyotype. 54 61
19758395 2009
31
Comparative analysis of G-CSFR and GM-CSFR expressions on CD34+ cells in patients with aplastic anemia and myelodysplastic syndrome. 54 61
18637807 2009
32
Myeloproliferative neoplasms: contemporary diagnosis using histology and genetics. 54 61
19806146 2009
33
MDS and secondary AML display unique patterns and abundance of aberrant DNA methylation. 54 61
19652201 2009
34
Inducible expression of EVI1 in human myeloid cells causes phenotypes consistent with its role in myelodysplastic syndromes. 54 61
19605700 2009
35
The ambiguous role of interferon regulatory factor-1 (IRF-1) immunoexpression in myelodysplastic syndrome. 54 61
19345417 2009
36
Relationship between expression of mutant type glutathione S-transferase theta-1 gene and reactivity of rapamycin in myelodysplastic syndrome. 54 61
19843381 2009
37
Treatment of myelodysplastic syndrome patients with erythropoietin with or without granulocyte colony-stimulating factor: results of a prospective randomized phase 3 trial by the Eastern Cooperative Oncology Group (E1996). 54 61
19564636 2009
38
Early epigenetic changes and DNA damage do not predict clinical response in an overlapping schedule of 5-azacytidine and entinostat in patients with myeloid malignancies. 54 61
19546476 2009
39
Effect of low-dose cytarabine, homoharringtonine and granulocyte colony-stimulating factor priming regimen on patients with advanced myelodysplastic syndrome or acute myeloid leukemia transformed from myelodysplastic syndrome. 54 61
19672772 2009
40
Assessment of ATRX expression in patients with myelodysplastic syndromes treated with decitabine. 54 61
19157545 2009
41
Phase II study of rabbit anti-thymocyte globulin, cyclosporine and granulocyte colony-stimulating factor in patients with aplastic anemia and myelodysplastic syndrome. 54 61
19242494 2009
42
Epigenetic modifiers: basic understanding and clinical development. 54 61
19509169 2009
43
Hematopoietic growth factors in aplastic anemia patients treated with immunosuppressive therapy-systematic review and meta-analysis. 54 61
19336743 2009
44
[Study on HFE gene mutations in patients with myelodysplastic syndromes and aplastic anemia]. 54 61
19731820 2009
45
CBL exon 8/9 mutants activate the FLT3 pathway and cluster in core binding factor/11q deletion acute myeloid leukemia/myelodysplastic syndrome subtypes. 54 61
19276253 2009
46
Immune mediated autologous cytotoxicity against hematopoietic precursor cells in patients with myelodysplastic syndrome. 54 61
19229054 2009
47
EVI1 Impairs myelopoiesis by deregulation of PU.1 function. 54 61
19208846 2009
48
Efficacy of a combination of human recombinant erythropoietin + 13-cis-retinoic acid and dihydroxylated vitamin D3 to improve moderate to severe anaemia in low/intermediate risk myelodysplastic syndromes. 54 61
19036104 2009
49
An assessment of erythroid response to epoetin alpha as a single agent versus in combination with granulocyte- or granulocyte-macrophage-colony-stimulating factor in myelodysplastic syndromes using a meta-analysis approach. 54 61
19152429 2009
50
Genetic and molecular diagnosis of severe congenital neutropenia. 54 61
19057199 2009
Sources

Variations for Myelodysplastic Syndrome

About this section

ClinVar genetic disease variations for Myelodysplastic Syndrome:

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IDH1 NM_005896.3(IDH1):c.395G>A (p.Arg132His)SNV Pathogenic 156444 rs121913500 2:209113112-209113112 2:208248388-208248388
2 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 177778 rs121913250 1:115258748-115258748 1:114716127-114716127
3 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
4 NRAS NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)SNV Pathogenic 219097 rs121913237 1:115258747-115258747 1:114716126-114716126
5 SF3B1 NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn)SNV Pathogenic 219098 rs377023736 2:198267359-198267359 2:197402635-197402635
6 TP53 NM_000546.5(TP53):c.742C>T (p.Arg248Trp)SNV Pathogenic 12347 rs121912651 17:7577539-7577539 17:7674221-7674221
7 TP53 NM_000546.5(TP53):c.743G>A (p.Arg248Gln)SNV Pathogenic 12356 rs11540652 17:7577538-7577538 17:7674220-7674220
8 HRAS NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 12602 rs104894229 11:534289-534289 11:534289-534289
9 HRAS NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)SNV Pathogenic 12603 rs104894230 11:534288-534288 11:534288-534288
10 HRAS NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 12613 rs104894229 11:534289-534289 11:534289-534289
11 NRAS NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)SNV Pathogenic 13901 rs121434596 1:115258744-115258744 1:114716123-114716123
12 GATA2 NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met)SNV Pathogenic 29711 rs387906631 3:128200744-128200744 3:128481901-128481901
13 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 39648 rs121913237 1:115258747-115258747 1:114716126-114716126
14 NRAS NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 40468 rs121913250 1:115258748-115258748 1:114716127-114716127
15 NRAS NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)SNV Pathogenic 40469 rs121913250 1:115258748-115258748 1:114716127-114716127
16 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val)SNV Pathogenic 40470 rs121913237 1:115258747-115258747 1:114716126-114716126
17 TP53 NM_000546.5(TP53):c.743G>T (p.Arg248Leu)SNV Pathogenic 230253 rs11540652 17:7577538-7577538 17:7674220-7674220
18 ASXL1 NM_015338.5(ASXL1):c.2100T>A (p.Tyr700Ter)SNV Pathogenic 548120 rs1261178797 20:31022615-31022615 20:32434812-32434812
19 IDH2 NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln)SNV Pathogenic/Likely pathogenic 14716 rs121913502 15:90631934-90631934 15:90088702-90088702
20 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)SNV Pathogenic/Likely pathogenic 13899 rs121434595 1:115258745-115258745 1:114716124-114716124
21 IDH1 NM_005896.3(IDH1):c.394C>G (p.Arg132Gly)SNV Pathogenic/Likely pathogenic 375892 rs121913499 2:209113113-209113113 2:208248389-208248389
22 IDH1 NM_005896.3(IDH1):c.394C>A (p.Arg132Ser)SNV Pathogenic/Likely pathogenic 375893 rs121913499 2:209113113-209113113 2:208248389-208248389
23 IDH2 NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys)SNV Pathogenic/Likely pathogenic 375987 rs121913503 15:90631838-90631838 15:90088606-90088606
24 IDH2 NM_001289910.1(IDH2):c.263G>T (p.Arg88Leu)SNV Pathogenic/Likely pathogenic 375988 rs121913502 15:90631934-90631934 15:90088702-90088702
25 IDH2 NM_001289910.1(IDH2):c.262C>T (p.Arg88Trp)SNV Pathogenic/Likely pathogenic 375989 rs267606870 15:90631935-90631935 15:90088703-90088703
26 NRAS NM_002524.5(NRAS):c.38G>T (p.Gly13Val)SNV Pathogenic/Likely pathogenic 375876 rs121434596 1:115258744-115258744 1:114716123-114716123
27 DNMT3A NM_022552.4(DNMT3A):c.2645G>C (p.Arg882Pro)SNV Pathogenic/Likely pathogenic 375880 rs147001633 2:25457242-25457242 2:25234373-25234373
28 DNMT3A NM_022552.4(DNMT3A):c.2644C>T (p.Arg882Cys)SNV Pathogenic/Likely pathogenic 375882 rs377577594 2:25457243-25457243 2:25234374-25234374
29 IDH1 NM_005896.3(IDH1):c.395G>T (p.Arg132Leu)SNV Pathogenic/Likely pathogenic 375889 rs121913500 2:209113112-209113112 2:208248388-208248388
30 IDH1 NM_005896.3(IDH1):c.394C>T (p.Arg132Cys)SNV Likely pathogenic 375891 rs121913499 2:209113113-209113113 2:208248389-208248389
31 U2AF1 NM_006758.2(U2AF1):c.470A>C (p.Gln157Pro)SNV Likely pathogenic 376024 rs371246226 21:44514777-44514777 21:43094667-43094667
32 U2AF1 NM_006758.2(U2AF1):c.101C>T (p.Ser34Phe)SNV Likely pathogenic 376025 rs371769427 21:44524456-44524456 21:43104346-43104346
33 U2AF1 NM_006758.2(U2AF1):c.101C>A (p.Ser34Tyr)SNV Likely pathogenic 376026 rs371769427 21:44524456-44524456 21:43104346-43104346
34 SF3B2 NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)SNV Likely pathogenic 376533 rs1057519960 11:65830884-65830884 11:66063413-66063413
35 TP53 NM_000546.5(TP53):c.742C>G (p.Arg248Gly)SNV Likely pathogenic 376652 rs121912651 17:7577539-7577539 17:7674221-7674221
36 MT-TL1 m.3242G>ASNV Likely pathogenic 9600 rs193303018 MT:3242-3242 MT:3242-3242
37 GATA2 NM_001145661.2(GATA2):c.1065_1067del (p.Thr358del)deletion risk factor 29722 3:128200738-128200740 3:128481895-128481897
38 TP53 NM_000546.5(TP53):c.743G>C (p.Arg248Pro)SNV Likely pathogenic 237954 rs11540652 17:7577538-7577538 17:7674220-7674220
39 DNMT3A NM_022552.4(DNMT3A):c.2645G>A (p.Arg882His)SNV Conflicting interpretations of pathogenicity 375881 rs147001633 2:25457242-25457242 2:25234373-25234373
40 GATA2 NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr)SNV Conflicting interpretations of pathogenicity 404078 rs201155045 3:128200019-128200019 3:128481176-128481176
41 GATA2 NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg)SNV Uncertain significance 404080 rs753645971 3:128204996-128204996 3:128486153-128486153
42 GATA2 NM_001145661.2(GATA2):c.829A>G (p.Ser277Gly)SNV Uncertain significance 435283 rs141800945 3:128204612-128204612 3:128485769-128485769
43 GATA2 NM_001145661.2(GATA2):c.1232C>T (p.Ala411Val)SNV Uncertain significance 472438 rs374457534 3:128200073-128200073 3:128481230-128481230
44 GATA2 NM_001145661.2(GATA2):c.182C>T (p.Ala61Val)SNV Uncertain significance 241721 rs375349195 3:128205693-128205693 3:128486850-128486850
45 GATA2 NM_001145661.2(GATA2):c.1348G>A (p.Gly450Arg)SNV Uncertain significance 404088 rs370164300 3:128199957-128199957 3:128481114-128481114
46 ASXL1 NM_015338.5(ASXL1):c.1910C>G (p.Ala637Gly)SNV Uncertain significance 548571 rs769053835 20:31022425-31022425 20:32434622-32434622
47 ASXL1 NM_001363734.1(ASXL1):c.3926_3928AGA[1] (p.Lys1310del)short repeat Uncertain significance 548554 rs752856195 20:31024624-31024626 20:32436821-32436823
48 ASXL1 NM_001363734.1(ASXL1):c.4099_4101TCT[1] (p.Ser1368del)short repeat Uncertain significance 587611 rs1203207717 20:31024795-31024797 20:32436992-32436994
49 DDX41 NM_016222.4(DDX41):c.712C>A (p.Pro238Thr)SNV no interpretation for the single variant 417675 rs376093707 5:176942003-176942003 5:177515002-177515002
50 DDX41 NM_016222.4(DDX41):c.711G>T (p.Leu237Phe)SNV no interpretation for the single variant 417674 rs780209663 5:176942004-176942004 5:177515003-177515003

UniProtKB/Swiss-Prot genetic disease variations for Myelodysplastic Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 GATA2 p.Thr354Met VAR_066406 rs387906631
2 SETBP1 p.Asp868Asn VAR_063807 rs267607042
3 SETBP1 p.Gly870Ser VAR_063809 rs267607040
4 SETBP1 p.Ser869Asn VAR_069852
5 SETBP1 p.Thr873Arg VAR_069857
6 U2AF1 p.Ser34Phe VAR_079637 rs371769427
7 U2AF1 p.Ser34Tyr VAR_079638 rs371769427
8 U2AF1 p.Gln157Arg VAR_079639 rs371246226

Copy number variations for Myelodysplastic Syndrome from CNVD:

7 (show top 50) (show all 82)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 18423 1 14554092 29473750 Deletion Myelodysplastic syndrome
2 33240 1 43803475 43820135 Mutation MPL Myelodysplastic syndrome
3 40833 10 133929972 135293404 Duplication Myelodysplastic syndrome
4 44880 10 64500000 70600000 Loss Myelodysplastic syndrome
5 50727 11 119076986 119178859 Mutation CBL Myelodysplastic syndrome
6 51205 11 123900000 135006516 Gain Myelodysplastic syndrome
7 51499 11 127052052 133951370 Duplication Myelodysplastic syndrome
8 52451 11 1733191 2138300 Duplication Myelodysplastic syndrome
9 62482 12 10889756 25048970 Deletion Myelodysplastic syndrome
10 65983 12 239401 32382344 Deletion Myelodysplastic syndrome
11 72801 12 8689944 10025942 Deletion Myelodysplastic syndrome
12 97766 16 13109256 13949702 Deletion Myelodysplastic syndrome
13 108396 17 202809 18798804 Deletion Myelodysplastic syndrome
14 108397 17 202809 22129948 Deletion Myelodysplastic syndrome
15 109400 17 25800000 31800000 Gain Myelodysplastic syndrome
16 110294 17 31800000 38100000 Gain Myelodysplastic syndrome
17 116723 17 69689099 78513583 Duplication Myelodysplastic syndrome
18 116794 17 69987407 78623230 Deletion Myelodysplastic syndrome
19 118116 17 7571720 7590868 Mutation P53 Myelodysplastic syndrome
20 121808 18 47174275 49624685 Deletion Myelodysplastic syndrome
21 124116 19 1 59128983 Deletion Myelodysplastic syndrome
22 128856 19 43400000 45200000 Deletion Myelodysplastic syndrome
23 131185 19 53600000 59128983 Amplification Myelodysplastic syndrome
24 140406 2 197400000 204900000 Loss Myelodysplastic syndrome
25 152708 20 32473920 33605249 Deletion Myelodysplastic syndrome
26 153104 20 34400000 49800000 Deletion Myelodysplastic syndrome
27 153115 20 34507776 56709287 Deletion Myelodysplastic syndrome
28 153160 20 34853717 51702925 Deletion Myelodysplastic syndrome
29 158211 21 30500000 46944323 Microdeletion RUNX1 Myelodysplastic syndrome
30 160489 22 15438133 31661481 Triplication Myelodysplastic syndrome
31 168487 3 130292954 199251329 Duplication Myelodysplastic syndrome
32 180470 4 106067032 106200960 Mutation TET2 Myelodysplastic syndrome
33 181366 4 120601325 121421102 Deletion MAD2L1 Myelodysplastic syndrome
34 181367 4 120601325 121421102 Deletion PDE5A Myelodysplastic syndrome
35 181368 4 120601325 121421102 Deletion SAR1P3 Myelodysplastic syndrome
36 188218 4 60577199 61810493 Deletion Myelodysplastic syndrome
37 188320 4 62191591 126940390 Deletion Myelodysplastic syndrome
38 188506 4 65578799 66861924 Deletion EPHA5 Myelodysplastic syndrome
39 189909 4 80195990 82530576 Deletion ANTXR2 Myelodysplastic syndrome
40 189910 4 80195990 82530576 Deletion ARD1B Myelodysplastic syndrome
41 189911 4 80195990 82530576 Deletion BMP3 Myelodysplastic syndrome
42 189912 4 80195990 82530576 Deletion C4orf22 Myelodysplastic syndrome
43 189913 4 80195990 82530576 Deletion FGF5 Myelodysplastic syndrome
44 189914 4 80195990 82530576 Deletion GK2 Myelodysplastic syndrome
45 189915 4 80195990 82530576 Deletion PRDM8 Myelodysplastic syndrome
46 189916 4 80195990 82530576 Deletion PRKG2 Myelodysplastic syndrome
47 191854 5 102760027 157708888 Deletion Myelodysplastic syndrome
48 193154 5 125503105 161513040 Deletion Myelodysplastic syndrome
49 200025 5 48400000 180915260 Deletion GLRA1 Myelodysplastic syndrome
50 200026 5 48400000 180915260 Deletion SH3TC2 Myelodysplastic syndrome
Sources

Expression for Myelodysplastic Syndrome

About this section
Search GEO for disease gene expression data for Myelodysplastic Syndrome.
Sources

Pathways for Myelodysplastic Syndrome

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Pathways related to Myelodysplastic Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Spliceosome hsa03040
2 Signaling pathways regulating pluripotency of stem cells hsa04550

Pathways related to Myelodysplastic Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Pathways in cancer 36
12.56 TP53 NRAS MECOM HRAS GNB1
2
Proteoglycans in cancer 36
11.87 TP53 NRAS MIR10A HRAS
3
MicroRNAs in cancer 36
11.59 TP53 NRAS MIR34A MIR10A HRAS DNMT3A
4
Bladder cancer 36 1
11.41 TP53 NRAS HRAS
5
Mitophagy - animal 36
11.31 TP53 NRAS HRAS
6
Central carbon metabolism in cancer 36
11.3 TP53 NRAS IDH1 HRAS
7
p38MAPK events 65
10.57 NRAS HRAS
8
LncRNA-mediated mechanisms of therapeutic resistance 1
10.48 TP53 MEG3
9
Cytosine methylation 1
Show member pathways
 10.25 TET2 IDH2 IDH1
Sources

GO Terms for Myelodysplastic Syndrome

About this section

Biological processes related to Myelodysplastic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.46 TP53 MIR34A GNB1 DNMT3A
2 NADP metabolic process GO:0006739 9.37 IDH2 IDH1
3 bone marrow development GO:0048539 9.32 TP53 ASXL1
4 isocitrate metabolic process GO:0006102 9.26 IDH2 IDH1
5 glyoxylate cycle GO:0006097 8.96 IDH2 IDH1
6 Ras protein signal transduction GO:0007265 8.92 TP53 NRAS HRAS GNB1

Molecular functions related to Myelodysplastic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.96 IDH2 IDH1
2 isocitrate dehydrogenase activity GO:0004448 8.62 IDH2 IDH1
Sources

Sources for Myelodysplastic Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA