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MDS
MCID: MYL009
MIFTS: 67

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

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MalaCards integrated aliases for Myelodysplastic Syndrome:

Name: Myelodysplastic Syndrome 57 12 58 72 36 29 6 15 37 39 17 70
Myelodysplastic Syndromes 73 20 54 42 44 15 32
Myelodysplasia 20 29 6
Mds 57 20 72
Myelodysplastic Syndrome, Somatic 57 13
Myelodysplastic Syndrome, Susceptibility to, Included 57
Myelodysplastic Syndrome, Susceptibility to 57
Myelodysplastic Syndrome Included 57

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® 57 614286
KEGG 36 H01481
MeSH 44 D009190
ICD10 32 D46 D46.6 D46.9
MESH via Orphanet 45 D009190
UMLS via Orphanet 71 C0026985 C3463824
Orphanet 58 ORPHA52688
MedGen 41 C3463824
UMLS 70 C2713368 C3463824
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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 juvenile myelomonocytic leukemia and myeloid 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 Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include Placenta and Umbilical Cord, and related phenotype is myelodysplasia.

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

GARD : 20 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) (Updated 20-May-2021)

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 : 72 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 : 73 A myelodysplastic syndrome (MDS) is one of a group of cancers in which immature blood cells in the bone... more...

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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 1156)
# Related Disease Score Top Affiliating Genes
1 juvenile myelomonocytic leukemia 33.1 U2AF1 TP53 TET2 SETBP1 RUNX1 NRAS
2 myeloid leukemia 33.0 U2AF1 TP53 TET2 RUNX1 NRAS MECOM
3 leukemia, acute myeloid 33.0 U2AF1 TP53 TET2 SF3B1 SETBP1 RUNX1
4 leukemia 32.8 U2AF1 TP53 TET2 RUNX1 NRAS MECOM
5 refractory anemia 32.7 TET2 SF3B1 RUNX1 ASXL1
6 aplastic anemia 32.7 U2AF1 TP53 TET2 RUNX1 NRAS MIR34A
7 chronic myelomonocytic leukemia 32.6 U2AF1 TP53 TET2 SF3B1 SETBP1 RUNX1
8 dyskeratosis congenita 32.5 U2AF1 TP53 MECOM GATA2 DDX41
9 shwachman-diamond syndrome 1 32.5 U2AF1 TP53 GATA2 DDX41
10 pancytopenia 32.4 U2AF1 TP53 SAMD9 RUNX1 MECOM
11 refractory cytopenia with multilineage dysplasia 32.2 U2AF1 TET2 SF3B1 SETBP1 GATA2 ASXL1
12 myeloproliferative neoplasm 32.1 U2AF1 TET2 SF3B1 RUNX1 NRAS MIR10A
13 myelofibrosis 31.9 U2AF1 TP53 TET2 SETBP1 RUNX1 MEG3
14 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 31.8 TET2 SF3B1
15 leukemia, acute lymphoblastic 31.8 U2AF1 TP53 RUNX1 GNB1 GATA2
16 leukemia, chronic lymphocytic 31.7 U2AF1 TP53 SF3B1 NRAS MIR34A GNB1
17 leukemia, chronic myeloid 31.6 U2AF1 TP53 SETBP1 RUNX1 NRAS MIR10A
18 polycythemia vera 31.6 U2AF1 TP53 TET2 ASXL1
19 essential thrombocythemia 31.5 U2AF1 TP53 TET2 ASXL1
20 acute megakaryocytic leukemia 31.4 U2AF1 TP53 RUNX1 GATA2
21 myeloma, multiple 31.4 U2AF1 TP53 TET2 NRAS MEG3
22 hematologic cancer 31.4 U2AF1 RUNX1 MIR34A MIR127 MECOM GATA2
23 chronic leukemia 31.4 U2AF1 TET2 SETBP1 ASXL1
24 atypical chronic myeloid leukemia 31.3 U2AF1 TET2 SETBP1 RUNX1 ASXL1
25 childhood acute myeloid leukemia 31.2 TET2 SETBP1 NRAS MECOM ASXL1
26 blood platelet disease 31.1 U2AF1 TP53 TET2 RUNX1 ASXL1
27 systemic mastocytosis 31.1 TET2 NRAS ASXL1
28 myelodysplastic/myeloproliferative neoplasm 31.0 U2AF1 TET2 SETBP1 NRAS ASXL1
29 connective tissue disease 30.9 U2AF1 TP53 MIR34A MIR127 MIR10A
30 chronic neutrophilic leukemia 30.8 U2AF1 SETBP1 ASXL1
31 mixed phenotype acute leukemia 30.8 U2AF1 SETBP1 RUNX1
32 immunodeficiency 21 30.7 SAMD9 GATA2 DDX41 ASXL1
33 aggressive systemic mastocytosis 30.6 U2AF1 TET2 RUNX1 ASXL1
34 childhood leukemia 30.6 TP53 TET2 RUNX1 MECOM
35 cebpa-associated familial acute myeloid leukemia 30.4 RUNX1 GATA2
36 chromosome 5q deletion syndrome 11.7
37 myelodysplastic syndrome with excess blasts 11.5
38 miller-dieker lissencephaly syndrome 11.5
39 mitochondrial dna depletion syndrome 8a 11.4
40 bone marrow failure syndrome 1 11.3
41 acute myeloid leukemia and myelodysplastic syndromes related to radiation 11.3
42 dystonia 11, myoclonic 11.3
43 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent 11.3
44 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor 11.3
45 alpha-thalassemia myelodysplasia syndrome 11.3
46 mitochondrial dna depletion syndrome 2 11.2
47 ataxia-pancytopenia syndrome 11.2
48 myelodysplastic syndrome with single lineage dysplasia 11.1
49 severe congenital neutropenia 11.1
50 diamond-blackfan anemia 11.1

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



Diseases related to Myelodysplastic Syndrome
Sources

Symptoms & Phenotypes for Myelodysplastic Syndrome

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Human phenotypes related to Myelodysplastic Syndrome:

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

Clinical features from OMIM®:

614286 (Updated 20-May-2021)

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 555)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
2
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
3
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
5
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
6
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
7 Micronutrients Phase 4
8 Trace Elements Phase 4
9 Nutrients Phase 4
10 Vitamins Phase 4
11 Hormones Phase 4
12 Calcium, Dietary Phase 4
13 Calciferol Phase 4
14 Hydroxycholecalciferols Phase 4
15 Vitamin D2 Phase 4
16 Ergocalciferols Phase 4
17 Vaccines Phase 4
18
Calcium Nutraceutical Phase 4 7440-70-2 271
19
Treosulfan Approved, Investigational Phase 3 299-75-2 9296
20
Ondansetron Approved Phase 3 99614-02-5 4595
21
Aldesleukin Approved Phase 3 110942-02-4, 85898-30-2
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
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
26
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
27
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
28
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
29
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
30
Pentostatin Approved, Investigational Phase 3 53910-25-1 40926 439693
31
Hydroxyurea Approved Phase 3 127-07-1 3657
32
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
33
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
34
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 3 14838-15-4 26934
35
Morphine Approved, Investigational Phase 3 57-27-2 5288826
36
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
37
Perphenazine Approved Phase 3 58-39-9 4748
38
Amitriptyline Approved Phase 3 50-48-6 2160
39
Baclofen Approved Phase 3 1134-47-0 2284
40
Caspofungin Approved Phase 3 162808-62-0, 179463-17-3 468682 2826718
41
Tazobactam Approved Phase 3 89786-04-9 123630
42
Piperacillin Approved Phase 3 66258-76-2 43672
43
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
44
Amsacrine Approved, Investigational Phase 3 51264-14-3 2179
45
Dalteparin Approved Phase 3 9005-49-6
46
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
47
Vancomycin Approved Phase 3 1404-90-6 441141 14969
48
Ivosidenib Approved, Investigational Phase 3 1448347-49-6 71657455
49
Panobinostat Approved, Investigational Phase 3 404950-80-7 6918837
50
Ofloxacin Approved Phase 3 82419-36-1 4583

Interventional clinical trials:

(show top 50) (show all 1856)
# Name Status NCT ID Phase Drugs
1 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4 decitabine
2 A Randomized, Controlled, Multi-center Collaborative Phase Ⅳ Study to Evaluate the Safety and Efficacy of Decitabine in Myelodysplastic Syndrome Unknown status NCT02013102 Phase 4 Decitabine Injection
3 The Efficacy and Safety of CDA-2 for the Treatment of IPSS Lower/Intermediate-risk Myelodysplastic Syndrome Patients: a Multi-centered Prospective Open Study Unknown status NCT03335943 Phase 4 CDA-2 (Cell Differentiation Agent 2)
4 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
5 Biological Predictive Factors of Response to Erythropoiesis Stimulating Agent (ESA) in Low Risk Myelodysplastic Syndromes (MDS) Patients Completed NCT03598582 Phase 4 Epoetin Zeta
6 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
7 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
8 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
9 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
10 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
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 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
13 SMD/ATG-CSA: Antithymocyte Globulin and Cyclosporine in Treating Low Risk Patients With Myelodysplastic Syndrome Completed NCT00488436 Phase 4 Antithymocyte globulin;Cyclosporine
14 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
15 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
16 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
17 Incidence of Invasive Fungal Disease in Patients Receiving Immunosuppressive Therapy, Intensive Chemotherapy or Reduced Intensity Haematopoietic Stem Cell Transplantation on Posaconazole Prophylaxis Completed NCT02875743 Phase 4 Posaconazole
18 Pharmacokinetics of Posaconazole (Noxafil®) as Prophylaxis for Invasive Fungal Infections Completed NCT02805946 Phase 4 posaconazole
19 Evaluation of Allogeneic Marrow Transplants Depleted of T-Cells by CD34+ Selection in Patients Undergoing Transplantation With an Unrelated Matched or 1 Antigen Mismatched Donor or a 1 Antigen Mismatched Related Donor Completed NCT00003398 Phase 4 cyclophosphamide;thiotepa
20 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 Completed NCT03176849 Phase 4
21 The Efficacy and Safety of Azacytidine Combined With HAG Regimen Versus Azacytidine for Elderly Patients With Newly Diagnosed Myeloid Malignancy: a Prospective, Randomized Controlled Trial Recruiting NCT03873311 Phase 4 Azacytidine, HAG Regimen;Azacytidine
22 Evaluation of Antibody Response to High-Dose Seasonal Influenza Vaccination in Patients With Myeloid Malignancy Receiving Chemotherapy Recruiting NCT04484532 Phase 4
23 Study 200170: A Rollover Study to Provide Continued Treatment With Eltrombopag Active, not recruiting NCT01957176 Phase 4 ELT
24 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
25 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
26 Transfusion Effects in Myelodysplastic Patients: Limiting Exposure (Temple) Withdrawn NCT00202371 Phase 4
27 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
28 Decitabine and Arsenic Trioxide(ATO) in the Treatment of Myelodysplasic Syndrome Unknown status NCT03377725 Phase 3 Decitabine;Arsenic Trioxide
29 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
30 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
31 Prospective Study of the Diagnosis and Treatment of Myelodysplastic Syndromes (MDS) in Childhood Unknown status NCT00047268 Phase 3 cytarabine;mercaptopurine
32 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
33 Granulocyte Colony-stimulating Factor+Decitabine+Busulfan+Cyclophosphamide vs Busulfan+Cyclophosphamide Conditioning Regimen for Patients With RAEB-1, RAEB-2 and AML Secondary to MDS Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT02744742 Phase 2, Phase 3 Decitabine;Busulfan (BU);Cyclophosphamide (CY);Granulocyte Colony-Stimulating Factor(G-CSF)
34 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
35 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
36 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
37 A Phase 3, Multicenter, Randomized, Double Blind, Placebo Controlled Study to Assess the Safety and Efficacy of Antibacterial Prophylaxis for Prevention of Infections in Azacitidine Treated Myelodysplastic Syndrome Patients. Unknown status NCT02981615 Phase 3 Levofloxacin;Placebo Oral Tablet
38 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
39 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
40 Evaluation of a Donor Testing Kit for the Prediction of Acute GVHD in Patient Receiving a Peripheral Blood Stem Cells Allograft- Predictor 2 Unknown status NCT03887156 Phase 2, Phase 3
41 A Phase III Randomized Trial of G-CSF Stimulated Bone Marrow vs. Conventional Bone Marrow as a Stem Cell Source In Matched Sibling Donor Transplantation Unknown status NCT00450450 Phase 3
42 Randomized Study of Atorvastatin Prophylaxis as a Supplement to Standard of Care Prophylaxis to Prevent Chronic Graft Versus Host Disease Allogeneic Stem Cell Transplantation From Matched Unrelated Donors Unknown status NCT03066466 Phase 3 Atorvastatin;Methotrexate;Tacrolimus
43 Phase III Evaluation of EPO With or Without G-CSF Versus Supportive Therapy Alone in the Treatment of Myelodysplastic Syndromes Completed NCT00003138 Phase 3
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 A PROSPECTIVE RANDOMIZED, DOUBLE-BLIND, COMPARATIVE, MULTICENTER STUDY TO EVALUATE EFFICACY AND SAFETY OF NYSTATIN AND AMPHOTERICIN B FOR EMPIRIC ANTIFUNGAL TREATMENT IN NEUTROPENIC PATIENTS Completed NCT00002742 Phase 3 amphotericin B deoxycholate;nystatin
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 A Phase 3, Double-blind, Randomized Study to Compare the Efficacy and Safety of Luspatercept (ACE-536) Versus Placebo for the Treatment of Anemia Due to the IPSS-R Very Low, Low, or Intermediate Risk Myelodysplastic Syndromes in Subjects With Ring Sideroblasts Who Require Red Blood Cell Transfusions. Completed NCT02631070 Phase 3 Luspatercept
48 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Study Evaluating Epoetin Alfa Versus Placebo in Anemic Patients With IPSS Low- or Intermediate-1-Risk Myelodysplastic Syndromes Completed NCT01381809 Phase 3 Group 2: Placebo;Group 1: Epoetin alfa
49 Phase III MultiCenter Randomized Controlled Study to Assess Efficacy and Safety of ON 01910.Na 72-Hr Continuous IV Infusion in MDS Patients With Excess Blasts Relapsing After or Refractory to or Intolerant to Azacitidine or Decitabine Completed NCT01241500 Phase 3 ON 01910.Na
50 AZA PH GL 2003 CL 001 - Extension A Multicenter, Randomized, Open-label, Parallel-group, Phase 3 Trial of Subcutaneous Azacitidine Plus Best Supportive Care Versus Conventional Care Regimens Plus Best Supportive Care for the Treatment of Myelodysplastic Syndromes (MDS) Completed NCT01186939 Phase 3 Azacitidine

Search NIH Clinical Center for Myelodysplastic Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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
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
Placenta-derived mesenchymal stem cells (family)
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 GNB1 SF3B1 TET2
2 Myelodysplasia 29
Sources

Anatomical Context for Myelodysplastic Syndrome

About this section

MalaCards organs/tissues related to Myelodysplastic Syndrome:

40
Myeloid, Bone Marrow, Bone, T Cells, Breast, Neutrophil, Skin
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 17522)
# Title Authors PMID Year
1
Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. 57 6 61
30322869 2018
2
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 6 57 61
21892162 2011
3
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. 61 6
32098966 2020
4
Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression. 61 6
23861105 2013
5
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. 61 57
21995386 2011
6
Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. 57 61
21415852 2011
7
Mutation in TET2 in myeloid cancers. 57 61
19474426 2009
8
Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome. 61 6
14576046 2004
9
Survey on Recommended Health Care for Adult Patients with Myelodysplastic Syndromes Identifies Areas for Improvement. 61 42
33371225 2020
10
A simple score derived from bone marrow immunophenotyping is important for prognostic evaluation in myelodysplastic syndromes. 42 61
33219285 2020
11
Differential U2AF1 mutation sites, burden and co-mutation genes can predict prognosis in patients with myelodysplastic syndrome. 61 42
33122737 2020
12
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia. 6
27133828 2016
13
Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. 6
26944477 2016
14
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6
27108799 2016
15
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 6
26619011 2016
16
Effect of mutation order on myeloproliferative neoplasms. 57
25671252 2015
17
Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 6
25485910 2015
18
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 6
21670465 2011
19
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 6
21765025 2011
20
Distinctive microRNA expression profiles in CD34+ bone marrow cells from patients with myelodysplastic syndrome. 47 61
21150891 2011
21
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. 6
21242295 2011
22
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 6
20550934 2010
23
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. 6
20040766 2010
24
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 6
18723428 2008
25
Clinical advances in hypomethylating agents targeting epigenetic pathways. 61 54
20384584 2010
26
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
27
[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
28
GSTT1 and GSTM1 polymorphisms and myelodysplastic syndrome risk: a systematic review and meta-analysis. 54 61
19816935 2010
29
Effects of a novel DNA methyltransferase inhibitor zebularine on human breast cancer cells. 61 54
19459041 2010
30
Significant inverse correlation of microRNA-150/MYB and microRNA-222/p27 in myelodysplastic syndrome. 61 54
19615744 2010
31
Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia. 54 61
20064152 2010
32
Biased usage of BV gene families of T-cell receptors of WT1 (Wilms' tumor gene)-specific CD8+ T cells in patients with myeloid malignancies. 61 54
20132220 2010
33
Novel approaches for myelodysplastic syndromes: beyond hypomethylating agents. 61 54
20178141 2010
34
Significance of JAK2 and TET2 mutations in myelodysplastic syndromes. 54 61
20171768 2010
35
Expression of WT1 gene in multiple myeloma patients at diagnosis: is WT1 gene expression a useful marker in multiple myeloma? 61 54
20132661 2010
36
Treatment with mycophenolate mofetil followed by recombinant human erythropoietin in patients with low-risk myelodysplastic syndromes resistant to erythropoietin treatment. 54 61
20139394 2010
37
Comparative analysis of G-CSFR and GM-CSFR expressions on CD34+ cells in patients with aplastic anemia and myelodysplastic syndrome. 61 54
18637807 2009
38
Platelet-derived growth factor beta receptor (PDGFRB) gene is rearranged in a significant percentage of myelodysplastic syndromes with normal karyotype. 61 54
19758395 2009
39
Myeloproliferative neoplasms: contemporary diagnosis using histology and genetics. 54 61
19806146 2009
40
MDS and secondary AML display unique patterns and abundance of aberrant DNA methylation. 54 61
19652201 2009
41
Relationship between expression of mutant type glutathione S-transferase theta-1 gene and reactivity of rapamycin in myelodysplastic syndrome. 61 54
19843381 2009
42
The ambiguous role of interferon regulatory factor-1 (IRF-1) immunoexpression in myelodysplastic syndrome. 54 61
19345417 2009
43
Inducible expression of EVI1 in human myeloid cells causes phenotypes consistent with its role in myelodysplastic syndromes. 61 54
19605700 2009
44
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
45
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
46
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
47
Phase II study of rabbit anti-thymocyte globulin, cyclosporine and granulocyte colony-stimulating factor in patients with aplastic anemia and myelodysplastic syndrome. 61 54
19242494 2009
48
Assessment of ATRX expression in patients with myelodysplastic syndromes treated with decitabine. 54 61
19157545 2009
49
Epigenetic modifiers: basic understanding and clinical development. 61 54
19509169 2009
50
Hematopoietic growth factors in aplastic anemia patients treated with immunosuppressive therapy-systematic review and meta-analysis. 61 54
19336743 2009
Sources

Variations for Myelodysplastic Syndrome

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ClinVar genetic disease variations for Myelodysplastic Syndrome:

6 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DDX41 NM_016222.4(DDX41):c.3G>A (p.Met1Ile) SNV Pathogenic 224637 rs141601766 GRCh37: 5:176943944-176943944
GRCh38: 5:177516943-177516943
2 RUNX1 NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs) Deletion Pathogenic 1013621 GRCh37: 21:36164781-36164787
GRCh38: 21:34792484-34792490
3 MT-TL1 m.3242G>A SNV Pathogenic 9600 rs193303018 GRCh37: MT:3242-3242
GRCh38: MT:3242-3242
4 ASXL1 NM_015338.5(ASXL1):c.2100T>A (p.Tyr700Ter) SNV Pathogenic 548120 rs1261178797 GRCh37: 20:31022615-31022615
GRCh38: 20:32434812-32434812
5 DDX41 NM_016222.4(DDX41):c.155dup (p.Arg53fs) Duplication Pathogenic 978202 GRCh37: 5:176943431-176943432
GRCh38: 5:177516430-177516431
6 DDX41 NM_016222.4(DDX41):c.370C>T (p.Arg124Ter) SNV Pathogenic 978205 GRCh37: 5:176943123-176943123
GRCh38: 5:177516122-177516122
7 DDX41 NM_016222.4(DDX41):c.712C>A (p.Pro238Thr) SNV Pathogenic 403734 rs376093707 GRCh37: 5:176942003-176942003
GRCh38: 5:177515002-177515002
8 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Pathogenic 208722 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
9 ASXL1 NM_015338.5(ASXL1):c.1210C>T (p.Arg404Ter) SNV Pathogenic 30986 rs373145711 GRCh37: 20:31021211-31021211
GRCh38: 20:32433408-32433408
10 SAMD9 SAMD9, THR205PRO Variation Pathogenic 988625 GRCh37:
GRCh38:
11 DNMT3A NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) SNV Likely pathogenic 375882 rs377577594 GRCh37: 2:25457243-25457243
GRCh38: 2:25234374-25234374
12 GATA2 NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del Deletion Likely pathogenic 975812 GRCh37:
GRCh38:
13 NRAS NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) SNV Likely pathogenic 40469 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
14 IDH1 NM_001282386.1(IDH1):c.394C>T (p.Arg132Cys) SNV Likely pathogenic 375891 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
15 HRAS , LRRC56 NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Likely pathogenic 12603 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
16 NRAS NM_002524.5(NRAS):c.38G>T (p.Gly13Val) SNV Likely pathogenic 375876 rs121434596 GRCh37: 1:115258744-115258744
GRCh38: 1:114716123-114716123
17 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val) SNV Likely pathogenic 40470 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
18 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) SNV Likely pathogenic 177778 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
19 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) SNV Likely pathogenic 13899 rs121434595 GRCh37: 1:115258745-115258745
GRCh38: 1:114716124-114716124
20 IDH2 NM_001289910.1(IDH2):c.262C>T (p.Arg88Trp) SNV Likely pathogenic 375989 rs267606870 GRCh37: 15:90631935-90631935
GRCh38: 15:90088703-90088703
21 DNMT3A NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) SNV Likely pathogenic 375880 rs147001633 GRCh37: 2:25457242-25457242
GRCh38: 2:25234373-25234373
22 U2AF1 NM_001025203.1(U2AF1):c.101C>A (p.Ser34Tyr) SNV Likely pathogenic 376026 rs371769427 GRCh37: 21:44524456-44524456
GRCh38: 21:43104346-43104346
23 SF3B2 NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) SNV Likely pathogenic 376533 rs1057519960 GRCh37: 11:65830884-65830884
GRCh38: 11:66063413-66063413
24 IDH2 NM_001289910.1(IDH2):c.263G>T (p.Arg88Leu) SNV Likely pathogenic 375988 rs121913502 GRCh37: 15:90631934-90631934
GRCh38: 15:90088702-90088702
25 TP53 NM_000546.6(TP53):c.742C>T (p.Arg248Trp) SNV Likely pathogenic 12347 rs121912651 GRCh37: 17:7577539-7577539
GRCh38: 17:7674221-7674221
26 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Likely pathogenic 12356 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
27 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) SNV Likely pathogenic 12602 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
28 NRAS NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 40468 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
29 IDH1 NM_001282386.1(IDH1):c.394C>G (p.Arg132Gly) SNV Likely pathogenic 375892 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
30 DNMT3A NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) SNV Likely pathogenic 375881 rs147001633 GRCh37: 2:25457242-25457242
GRCh38: 2:25234373-25234373
31 IDH1 NM_001282386.1(IDH1):c.394C>A (p.Arg132Ser) SNV Likely pathogenic 375893 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
32 TERT NM_198253.3(TERT):c.1990G>C (p.Val664Leu) SNV Likely pathogenic 212400 rs797046042 GRCh37: 5:1279546-1279546
GRCh38: 5:1279431-1279431
33 IDH2 NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) SNV Likely pathogenic 14716 rs121913502 GRCh37: 15:90631934-90631934
GRCh38: 15:90088702-90088702
34 NRAS NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) SNV Likely pathogenic 13901 rs121434596 GRCh37: 1:115258744-115258744
GRCh38: 1:114716123-114716123
35 TP53 NM_000546.5(TP53):c.742C>G (p.Arg248Gly) SNV Likely pathogenic 376652 rs121912651 GRCh37: 17:7577539-7577539
GRCh38: 17:7674221-7674221
36 U2AF1 NM_001025203.1(U2AF1):c.101C>T (p.Ser34Phe) SNV Likely pathogenic 376025 rs371769427 GRCh37: 21:44524456-44524456
GRCh38: 21:43104346-43104346
37 GATA2 NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) SNV risk factor 29711 rs387906631 GRCh37: 3:128200744-128200744
GRCh38: 3:128481901-128481901
38 GATA2 NM_032638.5(GATA2):c.1065_1067del (p.Thr358del) Deletion risk factor 29722 rs1576745225 GRCh37: 3:128200738-128200740
GRCh38: 3:128481895-128481897
39 IDH1 NM_001282386.1(IDH1):c.395G>T (p.Arg132Leu) SNV Likely pathogenic 375889 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388
40 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
41 IDH1 NM_001282386.1(IDH1):c.395G>A (p.Arg132His) SNV Likely pathogenic 156444 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388
42 TP53 NM_000546.5(TP53):c.743G>T (p.Arg248Leu) SNV Likely pathogenic 230253 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
43 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) SNV Likely pathogenic 39648 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
44 TP53 NM_000546.5(TP53):c.743G>C (p.Arg248Pro) SNV Likely pathogenic 237954 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
45 NRAS NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) SNV Likely pathogenic 219097 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
46 ASXL1 NM_001363734.1(ASXL1):c.3926_3928AGA[1] (p.Lys1310del) Microsatellite Uncertain significance 548554 rs752856195 GRCh37: 20:31024624-31024626
GRCh38: 20:32436821-32436823
47 ASXL1 NM_015338.5(ASXL1):c.1910C>G (p.Ala637Gly) SNV Uncertain significance 548571 rs769053835 GRCh37: 20:31022425-31022425
GRCh38: 20:32434622-32434622
48 ASXL1 NM_001363734.1(ASXL1):c.4099_4101TCT[1] (p.Ser1368del) Microsatellite Uncertain significance 587611 rs1203207717 GRCh37: 20:31024795-31024797
GRCh38: 20:32436992-32436994
49 GATA2 NM_001145661.2(GATA2):c.1348G>A (p.Gly450Arg) SNV Uncertain significance 404088 rs370164300 GRCh37: 3:128199957-128199957
GRCh38: 3:128481114-128481114
50 GATA2 NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr) SNV Uncertain significance 404078 rs201155045 GRCh37: 3:128200019-128200019
GRCh38: 3:128481176-128481176

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

72
# 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 TP53 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 SAR1AP3 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 NAA11 Myelodysplastic syndrome
41 189911 4 80195990 82530576 Deletion BMP3 Myelodysplastic syndrome
42 189912 4 80195990 82530576 Deletion CFAP299 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

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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:

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
12.08 TP53 RUNX1 NRAS MECOM GNB1
2
MicroRNAs in cancer 36
11.95 TP53 NRAS MIR34A MIR10A
3
LncRNA-mediated mechanisms of therapeutic resistance 1
9.7 TP53 MEG3
Sources

GO Terms for Myelodysplastic Syndrome

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Cellular components related to Myelodysplastic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic step 2 spliceosome GO:0071013 8.8 U2AF1 SF3B1 DDX41

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 9.72 MIR378A MIR34A MIR127 MIR10A MEG3
2 negative regulation of gene expression GO:0010629 9.71 TP53 RUNX1 MIR34A GATA2
3 positive regulation of cardiac muscle cell apoptotic process GO:0010666 9.43 TP53 MIR34A
4 Ras protein signal transduction GO:0007265 9.43 TP53 NRAS GNB1
5 hematopoietic stem cell proliferation GO:0071425 9.37 RUNX1 MECOM
6 bone marrow development GO:0048539 9.16 TP53 ASXL1
7 hemopoiesis GO:0030097 9.13 RUNX1 GATA2 ASXL1
8 negative regulation of peroxisome proliferator activated receptor signaling pathway GO:0035359 8.62 MIR34A ASXL1
Sources

Sources for Myelodysplastic Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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