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MDS
MCID: MYL009
MIFTS: 72

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 57 12 59 74 37 29 6 15 38 40 17 72
Myelodysplastic Syndromes 75 53 55 43 44 15 33
Myelodysplasia 53 29 6
Mds 57 53 74
Myelodysplastic Syndrome, Somatic 57 13
Myelodysplastic Syndrome, Susceptibility to, Included 57
Myelodysplastic Syndrome, Susceptibility to 57
Myelodysplastic Syndrome Included 57

Characteristics:

Orphanet epidemiological data:

59
myelodysplastic syndrome
Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (United States); Age of onset: All ages;

HPO:

32
myelodysplastic syndrome:
Inheritance somatic mutation


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0050908
OMIM 57 614286
KEGG 37 H01481
MeSH 44 D009190
ICD10 33 D46 D46.6 D46.9
MESH via Orphanet 45 D009190
UMLS via Orphanet 73 C0026985 C3463824
Orphanet 59 ORPHA52688
MedGen 42 C3463824
UMLS 72 C2713368 C3463824
Sources

Summaries for Myelodysplastic Syndrome

About this section
MedlinePlus : 43 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 juvenile myelomonocytic leukemia and aplastic anemia. 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 mortality/aging

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 : 53 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 : 57 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 : 37
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 : 74 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 : 75 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 1460)
# Related Disease Score Top Affiliating Genes
1 juvenile myelomonocytic leukemia 34.3 TET2 SETBP1 NRAS DNMT3A
2 aplastic anemia 34.2 TP53 TET2 NRAS GATA2 ASXL1
3 leukemia, acute myeloid 33.6 U2AF1 TP53 TET2 SF3B1 SETBP1 NRAS
4 myeloid leukemia 33.6 U2AF1 TP53 TET2 NRAS MECOM IDH1
5 chronic myelomonocytic leukemia 33.2 U2AF1 TET2 SETBP1 DNMT3A ASXL1
6 essential thrombocythemia 32.4 TP53 TET2 IDH2 IDH1 ASXL1
7 hematologic cancer 32.1 TP53 TET2 MECOM HRAS GATA2
8 chronic leukemia 32.0 TET2 SETBP1 ASXL1
9 myelofibrosis 31.7 U2AF1 TET2 MEG3 IDH2 IDH1 HRAS
10 acute erythroid leukemia 31.7 TP53 GATA2
11 cytogenetically normal acute myeloid leukemia 31.5 IDH2 IDH1
12 myeloma, multiple 31.4 TP53 NRAS MEG3 IDH2 IDH1 HRAS
13 brain cancer 31.4 TP53 NRAS IDH2 IDH1 HRAS
14 oligodendroglioma 31.3 TP53 IDH2 IDH1
15 suppression of tumorigenicity 12 30.9 TP53 IDH1 HRAS
16 leukemia, chronic myeloid 30.7 SETBP1 NRAS MIR10A MEG3 MECOM HRAS
17 intrahepatic cholangiocarcinoma 30.4 TP53 MIR127 IDH2 IDH1
18 glioblastoma 30.3 TP53 NRAS MIR34A MEG3 IDH2 IDH1
19 glioma 29.9 TP53 MIR34A MEG3 IDH2 IDH1
20 melanoma 29.5 TP53 NRAS MIR34A MIR127 MEG3
21 hepatocellular carcinoma 29.3 TP53 NRAS MIR34A MIR127 MEG3 MECOM
22 kidney cancer 29.0 TP53 MIR378A MEG3
23 bladder cancer 28.8 TP53 MIR127 MIR10A MEG3 HRAS
24 pancreatic cancer 28.3 TP53 MIR34A MIR127 MIR10A MEG3 HRAS
25 myelodysplastic syndrome with excess blasts 12.7
26 chromosome 5q deletion syndrome 12.5
27 unclassified myelodysplastic syndrome 12.4
28 acute myeloid leukemia and myelodysplastic syndromes related to radiation 12.4
29 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay 12.3
30 therapy related acute myeloid leukemia and myelodysplastic syndrome 12.3
31 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent 12.2
32 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor 12.2
33 miller-dieker lissencephaly syndrome 12.1
34 bone marrow failure syndrome 1 12.1
35 muscular dystrophy 12.0
36 myelodysplastic/myeloproliferative neoplasm 11.9
37 epidermolysa bullosa simplex with muscular dystrophy 11.9
38 menkes disease 11.9
39 alpha-thalassemia myelodysplasia syndrome 11.9
40 walker-warburg syndrome 11.8
41 dyskeratosis congenita 11.7
42 shwachman-diamond syndrome 1 11.7
43 lymphedema, primary, with myelodysplasia 11.6
44 diamond-blackfan anemia 11.6
45 muscular dystrophy-dystroglycanopathy , type a, 1 11.6
46 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.6
47 refractory anemia 11.6
48 myeloproliferative neoplasm 11.5
49 sideroblastic anemia 11.5
50 dystonia 11, myoclonic 11.5

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:

32
# Description HPO Frequency HPO Source Accession
1 myelodysplasia 32 HP:0002863

Clinical features from OMIM:

614286

MGI Mouse Phenotypes related to Myelodysplastic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.73 ASXL1 DNMT3A GATA2 GNB1 HRAS IDH1
2 neoplasm MP:0002006 9.17 ASXL1 HRAS IDH2 MECOM NRAS TET2
Sources

Drugs & Therapeutics for Myelodysplastic Syndrome

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

(show top 50) (show all 576)
# 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 D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
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 Antiparasitic Agents Phase 4
11 Antiprotozoal Agents Phase 4
12 Calciferol Phase 4
13 Calcium, Dietary Phase 4
14 Ergocalciferols Phase 4
15 Vitamin D2 Phase 4
16 Hydroxycholecalciferols Phase 4
17
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
18
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 23925 27284
19
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
20
Aldesleukin Approved Phase 3 85898-30-2, 110942-02-4
21
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
22
Iodine Approved, Investigational Phase 3 7553-56-2 807
23
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
24
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
25
Nystatin Approved, Vet_approved Phase 3 1400-61-9 11953884
26
deoxycholic acid Approved Phase 3 83-44-3 222528
27
Tazobactam Approved Phase 3 89786-04-9 123630
28
Piperacillin Approved Phase 3 66258-76-2 43672
29
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
30
Ribavirin Approved Phase 3 36791-04-5 37542
31
Palivizumab Approved, Investigational Phase 3 188039-54-5
32
Dalteparin Approved Phase 3 9005-49-6
33
Captopril Approved Phase 3 62571-86-2 44093
34
Amsacrine Approved, Investigational Phase 3 51264-14-3 2179
35
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
36
Vancomycin Approved Phase 3 1404-90-6 441141 14969
37
Acyclovir Approved Phase 3 59277-89-3 2022
38
Amitriptyline Approved Phase 3 50-48-6 2160
39
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
40
Perphenazine Approved Phase 3 58-39-9 4748
41
Baclofen Approved Phase 3 1134-47-0 2284
42
Procarbazine Approved, Investigational Phase 3 671-16-9 4915
43
Vinblastine Approved Phase 3 865-21-4 241903 13342
44
Bleomycin Approved, Investigational Phase 3 11056-06-7 5360373
45
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
46
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
47
Ofloxacin Approved Phase 3 82419-36-1 4583
48
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
49
Idarubicin Approved Phase 3 58957-92-9 42890
50
Romidepsin Approved, Investigational Phase 3 128517-07-7 5352062

Interventional clinical trials:

(show top 50) (show all 2047)
# 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 Study 200170: A Rollover Study to Provide Continued Treatment With Eltrombopag Recruiting NCT01957176 Phase 4 ELT
18 Pharmacokinetics of Posaconazole (Noxafil®) as Prophylaxis for Invasive Fungal Infections Recruiting NCT02805946 Phase 4 posaconazole
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 Prospective Study of Patients With Isolated Thrombocytopenia Following Hematopoietic Stem Cell Transplantation Unknown status NCT02487563 Phase 3 decitabine;rhTPO
38 A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients Unknown status NCT01316744 Phase 3 ketamine hydrochloride
39 A Randomized Trial of Thymoglobulin to Prevent Chronic Graft Versus Host Disease in Patients Undergoing Hematopoietic Progenitor Cell Transplantation (HPCT) From Unrelated Donors Unknown status NCT01217723 Phase 3
40 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
41 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
42 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
43 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
44 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)
45 The Unrelated Donor Marrow Transplantation Trial Completed NCT00003187 Phase 2, Phase 3 cyclophosphamide;cyclosporine;cytarabine;methotrexate;methylprednisolone
46 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
47 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
48 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
49 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
50 Phase III Evaluation of EPO With or Without G-CSF Versus Supportive Therapy Alone in the Treatment of Myelodysplastic Syndromes Completed NCT00003138 Phase 3

Search NIH Clinical Center for Myelodysplastic Syndrome

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


Antilymphocyte immunoglobulin (horse)
Antithymocyte immunoglobulin (rabbit)
decitabine
Decitabine
Imatinib
Lenalidomide

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
Hemacord, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
Hematopoietic stem cells for treatment of hematologic malignancies
NiCord, umbilical cord blood-derived stem/progenitor cells for hemotological diseases
StemEx, umbilical cord blood stem/progenitor cells for hematological diseases
Umbilical cord/placenta-derived mesenchymal stem cells for myelodysplastic syndrome
Embryonic/Adult Cultured Cells Related to Myelodysplastic Syndrome:
Peripheral blood-derived hematopoietic stem cells
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD) PMIDs: 9828244
Bone marrow-derived hematopoietic stem cells
Umbilical cord blood-derived stem cells (NiCord) PMIDs: 22198152
Umbilical cord blood stem/progenitor cells (Stemex) PMIDs: 18209724
Umbilical cord-derived mesenchymal stem cells (family)
Placenta-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:

41
Myeloid, Bone, Bone Marrow, T Cells, B Cells, Neutrophil, Testes
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 16106)
# Title Authors PMID Year
1
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 38 8 71
21892162 2011
2
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. 38 8
21995386 2011
3
Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. 38 8
21415852 2011
4
Mutation in TET2 in myeloid cancers. 38 8
19474426 2009
5
Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome. 38 71
14576046 2004
6
Wilms' tumor 1 mRNA expression: a good tool for differentiating between myelodysplastic syndrome and aplastic anemia in children? 38 17
31210595 2019
7
Emerging patterns in clonal haematopoiesis. 38 17
31164443 2019
8
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 71
27108799 2016
9
Effect of mutation order on myeloproliferative neoplasms. 8
25671252 2015
10
Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 71
25485910 2015
11
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 71
21670465 2011
12
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 71
21765025 2011
13
Distinctive microRNA expression profiles in CD34+ bone marrow cells from patients with myelodysplastic syndrome. 38 88
21150891 2011
14
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. 71
21242295 2011
15
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 71
20550934 2010
16
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. 71
20040766 2010
17
Prospective and comparative study of paroxysmal nocturnal hemoglobinuria patients treated or not by eculizumab: Focus on platelet extracellular vesicles. 17
31277120 2019
18
Clinical advances in hypomethylating agents targeting epigenetic pathways. 9 38
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. 9 38
20085581 2010
20
Effects of a novel DNA methyltransferase inhibitor zebularine on human breast cancer cells. 9 38
19459041 2010
21
[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]. 9 38
20448361 2010
22
GSTT1 and GSTM1 polymorphisms and myelodysplastic syndrome risk: a systematic review and meta-analysis. 9 38
19816935 2010
23
Novel approaches for myelodysplastic syndromes: beyond hypomethylating agents. 9 38
20178141 2010
24
Biased usage of BV gene families of T-cell receptors of WT1 (Wilms' tumor gene)-specific CD8+ T cells in patients with myeloid malignancies. 9 38
20132220 2010
25
Significance of JAK2 and TET2 mutations in myelodysplastic syndromes. 9 38
20171768 2010
26
Significant inverse correlation of microRNA-150/MYB and microRNA-222/p27 in myelodysplastic syndrome. 9 38
19615744 2010
27
Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia. 9 38
20064152 2010
28
Expression of WT1 gene in multiple myeloma patients at diagnosis: is WT1 gene expression a useful marker in multiple myeloma? 9 38
20132661 2010
29
Treatment with mycophenolate mofetil followed by recombinant human erythropoietin in patients with low-risk myelodysplastic syndromes resistant to erythropoietin treatment. 9 38
20139394 2010
30
Comparative analysis of G-CSFR and GM-CSFR expressions on CD34+ cells in patients with aplastic anemia and myelodysplastic syndrome. 9 38
18637807 2009
31
Platelet-derived growth factor beta receptor (PDGFRB) gene is rearranged in a significant percentage of myelodysplastic syndromes with normal karyotype. 9 38
19758395 2009
32
Myeloproliferative neoplasms: contemporary diagnosis using histology and genetics. 9 38
19806146 2009
33
The ambiguous role of interferon regulatory factor-1 (IRF-1) immunoexpression in myelodysplastic syndrome. 9 38
19345417 2009
34
Relationship between expression of mutant type glutathione S-transferase theta-1 gene and reactivity of rapamycin in myelodysplastic syndrome. 9 38
19843381 2009
35
MDS and secondary AML display unique patterns and abundance of aberrant DNA methylation. 9 38
19652201 2009
36
Inducible expression of EVI1 in human myeloid cells causes phenotypes consistent with its role in myelodysplastic syndromes. 9 38
19605700 2009
37
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. 9 38
19546476 2009
38
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). 9 38
19564636 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. 9 38
19672772 2009
40
Phase II study of rabbit anti-thymocyte globulin, cyclosporine and granulocyte colony-stimulating factor in patients with aplastic anemia and myelodysplastic syndrome. 9 38
19242494 2009
41
Assessment of ATRX expression in patients with myelodysplastic syndromes treated with decitabine. 9 38
19157545 2009
42
Epigenetic modifiers: basic understanding and clinical development. 9 38
19509169 2009
43
Hematopoietic growth factors in aplastic anemia patients treated with immunosuppressive therapy-systematic review and meta-analysis. 9 38
19336743 2009
44
[Study on HFE gene mutations in patients with myelodysplastic syndromes and aplastic anemia]. 9 38
19731820 2009
45
Immune mediated autologous cytotoxicity against hematopoietic precursor cells in patients with myelodysplastic syndrome. 9 38
19229054 2009
46
CBL exon 8/9 mutants activate the FLT3 pathway and cluster in core binding factor/11q deletion acute myeloid leukemia/myelodysplastic syndrome subtypes. 9 38
19276253 2009
47
EVI1 Impairs myelopoiesis by deregulation of PU.1 function. 9 38
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. 9 38
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. 9 38
19152429 2009
50
Detection of paroxysmal nocturnal hemoglobinuria clones in patients with myelodysplastic syndromes and related bone marrow diseases, with emphasis on diagnostic pitfalls and caveats. 9 38
19001281 2009
Sources

Variations for Myelodysplastic Syndrome

About this section

ClinVar genetic disease variations for Myelodysplastic Syndrome:

6 (show all 50)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NRAS NM_002524.5(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 1:115258744-115258744 1:114716123-114716123
2 GATA2 NM_032638.4(GATA2): c.1061C> T (p.Thr354Met) single nucleotide variant Pathogenic rs387906631 3:128200744-128200744 3:128481901-128481901
3 SF3B1 NM_012433.3(SF3B1): c.1998G> T (p.Lys666Asn) single nucleotide variant Pathogenic rs377023736 2:198267359-198267359 2:197402635-197402635
4 NRAS NM_002524.5(NRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs121913237 1:115258747-115258747 1:114716126-114716126
5 NRAS NM_002524.5(NRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs121913250 1:115258748-115258748 1:114716127-114716127
6 NRAS NM_002524.5(NRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913237 1:115258747-115258747 1:114716126-114716126
7 NRAS NM_002524.5(NRAS): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs121913250 1:115258748-115258748 1:114716127-114716127
8 NRAS NM_002524.5(NRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs121913250 1:115258748-115258748 1:114716127-114716127
9 NRAS NM_002524.5(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913237 1:115258747-115258747 1:114716126-114716126
10 IDH2 NM_002168.3(IDH2): c.419G> A (p.Arg140Gln) single nucleotide variant Pathogenic rs121913502 15:90631934-90631934 15:90088702-90088702
11 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 17:7577539-7577539 17:7674221-7674221
12 MT-TL1 m.3242G> A single nucleotide variant Pathogenic rs193303018 MT:3242-3242 MT:3242-3242
13 ASXL1 NM_015338.5(ASXL1): c.2100T> A (p.Tyr700Ter) single nucleotide variant Pathogenic rs1261178797 20:31022615-31022615 20:32434812-32434812
14 HRAS NM_005343.4(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 11:534289-534289 11:534289-534289
15 HRAS NM_005343.4(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 11:534288-534288 11:534288-534288
16 HRAS NM_005343.4(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 11:534289-534289 11:534289-534289
17 GNB1 NM_002074.5(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 1:1737942-1737942 1:1806503-1806503
18 DNMT3A NM_022552.4(DNMT3A): c.2645G> C (p.Arg882Pro) single nucleotide variant Pathogenic/Likely pathogenic rs147001633 2:25457242-25457242 2:25234373-25234373
19 NRAS NM_002524.5(NRAS): c.38G> T (p.Gly13Val) single nucleotide variant Pathogenic/Likely pathogenic rs121434596 1:115258744-115258744 1:114716123-114716123
20 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 17:7577538-7577538 17:7674220-7674220
21 IDH2 NM_002168.3(IDH2): c.418C> T (p.Arg140Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267606870 15:90631935-90631935 15:90088703-90088703
22 IDH2 NM_002168.3(IDH2): c.419G> T (p.Arg140Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913502 15:90631934-90631934 15:90088702-90088702
23 IDH2 NM_002168.3(IDH2): c.515G> A (p.Arg172Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913503 15:90631838-90631838 15:90088606-90088606
24 IDH1 NM_005896.3(IDH1): c.394C> A (p.Arg132Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 2:209113113-209113113 2:208248389-208248389
25 IDH1 NM_005896.3(IDH1): c.394C> G (p.Arg132Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 2:209113113-209113113 2:208248389-208248389
26 IDH1 NM_005896.3(IDH1): c.394C> T (p.Arg132Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 2:209113113-209113113 2:208248389-208248389
27 IDH1 NM_005896.3(IDH1): c.395G> T (p.Arg132Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913500 2:209113112-209113112 2:208248388-208248388
28 DNMT3A NM_022552.4(DNMT3A): c.2644C> T (p.Arg882Cys) single nucleotide variant Pathogenic/Likely pathogenic rs377577594 2:25457243-25457243 2:25234374-25234374
29 NRAS NM_002524.5(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 1:115258745-115258745 1:114716124-114716124
30 IDH1 NM_005896.3(IDH1): c.395G> A (p.Arg132His) single nucleotide variant Pathogenic/Likely pathogenic rs121913500 2:209113112-209113112 2:208248388-208248388
31 GATA2 GATA2, 3-BP DEL, 1063ACA deletion risk factor
32 TP53 NM_000546.5(TP53): c.742C> G (p.Arg248Gly) single nucleotide variant Likely pathogenic rs121912651 17:7577539-7577539 17:7674221-7674221
33 SF3B2 NM_006842.3(SF3B2): c.2099A> G (p.Glu700Gly) single nucleotide variant Likely pathogenic rs1057519960 11:65830884-65830884 11:66063413-66063413
34 U2AF1 NM_006758.2(U2AF1): c.101C> A (p.Ser34Tyr) single nucleotide variant Likely pathogenic rs371769427 21:44524456-44524456 21:43104346-43104346
35 U2AF1 NM_006758.2(U2AF1): c.101C> T (p.Ser34Phe) single nucleotide variant Likely pathogenic rs371769427 21:44524456-44524456 21:43104346-43104346
36 U2AF1 NM_006758.2(U2AF1): c.470A> C (p.Gln157Pro) single nucleotide variant Likely pathogenic rs371246226 21:44514777-44514777 21:43094667-43094667
37 TP53 NM_000546.5(TP53): c.743G> C (p.Arg248Pro) single nucleotide variant Likely pathogenic rs11540652 17:7577538-7577538 17:7674220-7674220
38 TP53 NM_000546.5(TP53): c.743G> T (p.Arg248Leu) single nucleotide variant Likely pathogenic rs11540652 17:7577538-7577538 17:7674220-7674220
39 DNMT3A NM_022552.4(DNMT3A): c.2645G> A (p.Arg882His) single nucleotide variant Conflicting interpretations of pathogenicity rs147001633 2:25457242-25457242 2:25234373-25234373
40 GATA2 NM_032638.4(GATA2): c.1348G> A (p.Gly450Arg) single nucleotide variant Uncertain significance rs370164300 3:128199957-128199957 3:128481114-128481114
41 GATA2 NM_032638.4(GATA2): c.1286G> C (p.Ser429Thr) single nucleotide variant Uncertain significance rs201155045 3:128200019-128200019 3:128481176-128481176
42 GATA2 NM_032638.4(GATA2): c.445G> A (p.Gly149Arg) single nucleotide variant Uncertain significance rs753645971 3:128204996-128204996 3:128486153-128486153
43 GATA2 NM_032638.4(GATA2): c.829A> G (p.Ser277Gly) single nucleotide variant Uncertain significance rs141800945 3:128204612-128204612 3:128485769-128485769
44 GATA2 NM_032638.4(GATA2): c.1232C> T (p.Ala411Val) single nucleotide variant Uncertain significance rs374457534 3:128200073-128200073 3:128481230-128481230
45 ASXL1 NM_015338.5(ASXL1): c.1910C> G (p.Ala637Gly) single nucleotide variant Uncertain significance rs769053835 20:31022425-31022425 20:32434622-32434622
46 ASXL1 NM_015338.5(ASXL1): c.4109_4111AGA[1] (p.Lys1371del) short repeat Uncertain significance rs752856195 20:31024627-31024629 20:32436824-32436826
47 GATA2 NM_032638.4(GATA2): c.182C> T (p.Ala61Val) single nucleotide variant Uncertain significance rs375349195 3:128205693-128205693 3:128486850-128486850
48 ASXL1 NM_015338.5(ASXL1): c.4282_4284TCT[1] (p.Ser1429del) short repeat Uncertain significance 20:31024800-31024802 20:32436997-32436999
49 DDX41 NM_016222.4(DDX41): c.712C> A (p.Pro238Thr) single nucleotide variant no interpretation for the single variant rs376093707 5:176942003-176942003 5:177515002-177515002
50 DDX41 NM_016222.4(DDX41): c.711G> T (p.Leu237Phe) single nucleotide variant no interpretation for the single variant rs780209663 5:176942004-176942004 5:177515003-177515003

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

74
# 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 Chromosom 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 97766 16 13109256 13949702 Deletion Myelodysplastic syndrome
12 108396 17 202809 18798804 Deletion Myelodysplastic syndrome
13 108397 17 202809 22129948 Deletion Myelodysplastic syndrome
14 109400 17 25800000 31800000 Gain Myelodysplastic syndrome
15 110294 17 31800000 38100000 Gain Myelodysplastic syndrome
16 118116 17 7571720 7590868 Mutation P53 Myelodysplastic syndrome
17 121808 18 47174275 49624685 Deletion Myelodysplastic syndrome
18 124116 19 1 59128983 Deletion Myelodysplastic syndrome
19 128856 19 43400000 45200000 Deletion Myelodysplastic syndrome
20 140406 2 197400000 204900000 Loss Myelodysplastic syndrome
21 152708 20 32473920 33605249 Deletion Myelodysplastic syndrome
22 153104 20 34400000 49800000 Deletion Myelodysplastic syndrome
23 153115 20 34507776 56709287 Deletion Myelodysplastic syndrome
24 153160 20 34853717 51702925 Deletion Myelodysplastic syndrome
25 158211 21 30500000 46944323 Microdeletion RUNX1 Myelodysplastic syndrome
26 160489 22 15438133 31661481 Triplication Myelodysplastic syndrome
27 168487 3 130292954 199251329 Duplication Myelodysplastic syndrome
28 180470 4 106067032 106200960 Mutation TET2 Myelodysplastic syndrome
29 181366 4 120601325 121421102 Deletion MAD2L1 Myelodysplastic syndrome
30 181367 4 120601325 121421102 Deletion PDE5A Myelodysplastic syndrome
31 181368 4 120601325 121421102 Deletion SAR1P3 Myelodysplastic syndrome
32 188218 4 60577199 61810493 Deletion Myelodysplastic syndrome
33 188320 4 62191591 126940390 Deletion Myelodysplastic syndrome
34 188506 4 65578799 66861924 Deletion EPHA5 Myelodysplastic syndrome
35 189909 4 80195990 82530576 Deletion ANTXR2 Myelodysplastic syndrome
36 189910 4 80195990 82530576 Deletion ARD1B Myelodysplastic syndrome
37 189911 4 80195990 82530576 Deletion BMP3 Myelodysplastic syndrome
38 189912 4 80195990 82530576 Deletion C4orf22 Myelodysplastic syndrome
39 189913 4 80195990 82530576 Deletion FGF5 Myelodysplastic syndrome
40 189914 4 80195990 82530576 Deletion GK2 Myelodysplastic syndrome
41 189915 4 80195990 82530576 Deletion PRDM8 Myelodysplastic syndrome
42 189916 4 80195990 82530576 Deletion PRKG2 Myelodysplastic syndrome
43 191854 5 102760027 157708888 Deletion Myelodysplastic syndrome
44 193154 5 125503105 161513040 Deletion Myelodysplastic syndrome
45 200025 5 48400000 180915260 Deletion GLRA1 Myelodysplastic syndrome
46 200026 5 48400000 180915260 Deletion SH3TC2 Myelodysplastic syndrome
47 202641 5 85951071 156837070 Deletion Myelodysplastic syndrome
48 208860 6 204528 24692054 Deletion Myelodysplastic syndrome
49 215358 6 75035581 76259717 Deletion COL12A1 Myelodysplastic syndrome
50 215359 6 75035581 76259717 Deletion COX7A2 Myelodysplastic syndrome
Sources

Expression for Myelodysplastic Syndrome

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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:

37
# 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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Pathways in cancer 37
12.55 TP53 NRAS MECOM HRAS GNB1
2
Proteoglycans in cancer 37
11.87 TP53 NRAS MIR10A HRAS
3
Glioblastoma Multiforme 64
11.72 TP53 NRAS HRAS
4
MicroRNAs in cancer 37
11.59 TP53 NRAS MIR34A MIR10A HRAS DNMT3A
5
Bladder cancer 37 1
11.41 TP53 NRAS HRAS
6
Mitophagy - animal 37
11.31 TP53 NRAS HRAS
7
Central carbon metabolism in cancer 37
11.3 TP53 NRAS IDH1 HRAS
8
Transcription_Transcription factor Tubby signaling pathways 22
11.07 TP53 NRAS HRAS
9
p38MAPK events 66
10.57 NRAS HRAS
10
LncRNA-mediated mechanisms of therapeutic resistance 1
10.48 TP53 MEG3
11
Cytosine methylation 1
Show member pathways
 10.25 TET2 IDH2 IDH1
Sources

GO Terms for Myelodysplastic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 9.77 MIR378A MIR34A MIR127 MIR10A MEG3
2 cellular response to hypoxia GO:0071456 9.46 TP53 MIR34A GNB1 DNMT3A
3 positive regulation of cellular senescence GO:2000774 9.4 MIR34A MIR10A
4 NADP metabolic process GO:0006739 9.32 IDH2 IDH1
5 isocitrate metabolic process GO:0006102 9.26 IDH2 IDH1
6 glyoxylate cycle GO:0006097 8.96 IDH2 IDH1
7 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 activity GO:0004448 8.96 IDH2 IDH1
2 isocitrate dehydrogenase (NADP+) activity GO:0004450 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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