MDS
MCID: MYL009
MIFTS: 64

Myelodysplastic Syndrome (MDS)

Categories: Blood diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Myelodysplastic Syndrome

MalaCards integrated aliases for Myelodysplastic Syndrome:

Name: Myelodysplastic Syndrome 57 11 58 73 28 5 14 36 38 16 71 75
Myelodysplastic Syndromes 19 75 53 41 43 14 31 33
Myelodysplasia 19 75 28 5
Mds 57 19 73
Myelodysplastic Syndrome, Susceptibility to, Included 57
Myelodysplastic Syndrome, Susceptibility to 57
Myelodysplastic Syndrome Included 57
Myelodysplastic Syndrome, Somatic 57

Characteristics:


Prevelance:

1-9/100000 (Europe, Europe, Germany, Germany, France, United States, Spain, Poland, Poland, Switzerland) 1-9/1000000 (Romania) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0050908
OMIM® 57 614286
MeSH 43 D009190
ICD10 31 D46 D46.6 D46.9
MESH via Orphanet 44 D009190
UMLS via Orphanet 72 C0026985 C3463824
Orphanet 58 ORPHA52688
MedGen 40 C3463824
SNOMED-CT via HPO 69 109995007 128623006 188736006
UMLS 71 C2713368 C3463824

Summaries for Myelodysplastic Syndrome

MedlinePlus: 41 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 leukemia, acute myeloid and juvenile myelomonocytic leukemia. An important gene associated with Myelodysplastic Syndrome is TET2 (Tet Methylcytosine Dioxygenase 2). The drugs Posaconazole and Micafungin have been mentioned in the context of this disorder. Affiliated tissues include Placenta and Umbilical Cord, and related phenotypes are myelodysplasia and neoplasm

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 08-Dec-2022)

GARD: 19 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 genetic change replicates, and the resulting copies begin to predominate in the bone marrow and suppress healthy stem cells. The genetic change 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.

UniProtKB/Swiss-Prot: 73 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).

Disease Ontology: 11 A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.

Wikipedia: 75 A myelodysplastic syndrome (MDS) is one of a group of cancers in which immature blood cells in the bone... more...

Related Diseases for Myelodysplastic Syndrome

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

(show top 50) (show all 1452)
# Related Disease Score Top Affiliating Genes
1 leukemia, acute myeloid 33.7 U2AF1 TET2 SF3B1 SETBP1 RUNX1 NRAS
2 juvenile myelomonocytic leukemia 33.2 U2AF1 TET2 SETBP1 SAMD9 RUNX1 NRAS
3 refractory anemia with excess blasts 33.1 U2AF1 TET2 SETBP1 GATA2 ASXL1
4 myeloid leukemia 33.0 U2AF1 TET2 SETBP1 RUNX1 NRAS MLF1
5 refractory cytopenia with multilineage dysplasia 33.0 U2AF1 TET2 SF3B1 SETBP1 GATA2 ASXL1
6 refractory anemia 32.9 TET2 SF3B1 ASXL1
7 shwachman-diamond syndrome 1 32.9 U2AF1 SAMD9 GATA2 DDX41 ASXL1
8 dyskeratosis congenita 32.9 U2AF1 SAMD9 GATA2 DDX41 ASXL1
9 leukemia 32.8 U2AF1 RUNX1 NRAS MLF1 GATA2 ASXL1
10 severe congenital neutropenia 32.7 U2AF1 SAMD9 RUNX1 GATA2 DDX41 ASXL1
11 diamond-blackfan anemia 32.6 U2AF1 SAMD9 GATA2 DDX41 ASXL1
12 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 32.5 TET2 SF3B1
13 chronic myelomonocytic leukemia 32.5 U2AF1 TET2 SF3B1 SETBP1 RUNX1 NRAS
14 leukemia, chronic myeloid 32.2 U2AF1 TET2 SF3B1 SETBP1 RUNX1 NRAS
15 myeloproliferative neoplasm 32.2 U2AF1 TET2 RUNX1 ASXL1
16 myelofibrosis 32.2 U2AF1 TET2 SF3B1 SETBP1 RUNX1 MEG3
17 hematologic cancer 32.1 U2AF1 RUNX1 MIR34A MIR127 GATA2
18 acute promyelocytic leukemia 31.8 U2AF1 TET2 RUNX1 NRAS GATA2 ASXL1
19 thrombocytosis 31.8 U2AF1 TET2 SF3B1 ASXL1
20 myeloma, multiple 31.7 U2AF1 TET2-AS1 TET2 NRAS MEG3
21 leukemia, chronic lymphocytic 31.6 U2AF1 TET2 SF3B1 NRAS MIR34A
22 essential thrombocythemia 31.6 U2AF1 TET2 SETBP1 ASXL1
23 immunodeficiency 21 31.5 U2AF1 SETBP1 SAMD9 GATA2 DDX41 ASXL1
24 atypical chronic myeloid leukemia, bcr-abl1 negative 31.5 U2AF1 TET2 SETBP1 NRAS ASXL1
25 acute megakaryocytic leukemia 31.4 U2AF1 RUNX1 GATA2
26 chronic leukemia 31.4 U2AF1 TET2 SETBP1 NRAS ASXL1
27 blood platelet disease 31.4 U2AF1 TET2 RUNX1 ASXL1
28 myelodysplastic/myeloproliferative neoplasm 31.3 U2AF1 TET2 SETBP1 NRAS GATA2 ASXL1
29 vexas syndrome 31.2 U2AF1 TET2 ASXL1
30 systemic mastocytosis 31.2 U2AF1 TET2 ASXL1
31 rasopathy 31.0 U2AF1 SETBP1 NRAS GATA2 ASXL1
32 gastrointestinal system disease 31.0 U2AF1 MIR378A MIR34A MIR127
33 chronic neutrophilic leukemia 30.9 U2AF1 TET2 SETBP1 ASXL1
34 myelophthisic anemia 30.8 U2AF1 TET2 ASXL1
35 brain cancer 30.7 U2AF1 NRAS MIR34A MIR10A
36 chronic eosinophilic leukemia 30.6 U2AF1 TET2 SETBP1 ASXL1
37 aggressive systemic mastocytosis 30.6 U2AF1 TET2 RUNX1 ASXL1
38 core binding factor acute myeloid leukemia 30.5 U2AF1 TET2 NRAS ASXL1
39 bone marrow cancer 30.5 U2AF1 TET2 MIR34A ASXL1
40 mastocytosis, cutaneous 30.5 U2AF1 TET2 ASXL1
41 plasma cell neoplasm 30.4 U2AF1 TET2-AS1 TET2 NRAS
42 systemic mastocytosis with associated hematologic neoplasm 30.4 TET2 ASXL1
43 skin melanoma 30.3 U2AF1 SF3B1 NRAS
44 chromosome 5q deletion syndrome 11.7
45 miller-dieker lissencephaly syndrome 11.5
46 bone marrow failure syndrome 1 11.5
47 alpha-thalassemia myelodysplasia syndrome 11.5
48 mitochondrial dna depletion syndrome 8a 11.4
49 unclassified myelodysplastic syndrome 11.4
50 acute myeloid leukemia and myelodysplastic syndromes related to radiation 11.3

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



Diseases related to Myelodysplastic Syndrome

Symptoms & Phenotypes for Myelodysplastic Syndrome

Human phenotypes related to Myelodysplastic Syndrome:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myelodysplasia 30 HP:0002863

Clinical features from OMIM®:

614286 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Myelodysplastic Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.5 ASXL1 MIR10A MIR34A NRAS RUNX1 TET2
2 mortality/aging MP:0010768 9.47 ASXL1 DDX41 GATA2 GNB1 MEG3 MIR10A

Drugs & Therapeutics for Myelodysplastic Syndrome

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

(show top 50) (show all 543)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
2
Micafungin Approved, Investigational Phase 4 235114-32-6 477468
3 Orange Approved Phase 4
4
Deferasirox Approved, Investigational Phase 4 201530-41-8 214348 5493381
5
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
6
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731
7
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
8 Hormones Phase 4
9 Hormone Antagonists Phase 4
10 Antiprotozoal Agents Phase 4
11 Antiparasitic Agents Phase 4
12 Cytochrome P-450 Enzyme Inhibitors Phase 4
13 Calciferol Phase 4
14
Vitamin D2 Phase 4 3249
15 Ergocalciferols Phase 4
16 Hydroxycholecalciferols Phase 4
17
homoharringtonine Phase 4 3628
18
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 209810-58-2
19
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
20
Ofloxacin Approved Phase 3 82419-36-1 4583
21
Idarubicin Approved Phase 3 58957-92-9 42890
22
Hydrocortisone succinate Approved Phase 3 2203-97-6 3643
23
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
24
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 3640 5754
25
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
26
Mitoxantrone Approved, Investigational Phase 3 70476-82-3, 65271-80-9 4212
27
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904
28
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3 3680
29
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 3003 5743
30
Coenzyme M Approved, Investigational Phase 3 3375-50-6 598 23662354
31
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
32
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
33
Hydroxyurea Approved Phase 3 127-07-1 3657
34
Etoposide Approved Phase 3 33419-42-0 36462
35
Heparin, bovine Approved, Investigational, Withdrawn Phase 3 9005-49-6 22833565 9812414 772
36
Sargramostim Approved, Investigational Phase 3 123774-72-1
37
Thalidomide Approved, Investigational, Withdrawn Phase 3 50-35-1 5426
38
Cobalt Approved, Experimental, Withdrawn Phase 3 7440-48-4 104729
39
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 3 14838-15-4, 492-39-7 131954576 4786 26934
40
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
41
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965
42
Ondansetron Approved, Withdrawn Phase 3 99614-02-5 4595
43
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
44
Amitriptyline Approved Phase 3 50-48-6 2160
45
Baclofen Approved Phase 3 1134-47-0 2284
46
Ketamine Approved, Vet_approved Phase 3 6740-88-1, 1867-66-9 3821
47
Morphine Approved, Investigational Phase 3 57-27-2 5288826
48
Reviparin Approved, Investigational Phase 3 9041-08-1
49
Nystatin Approved, Vet_approved Phase 3 1400-61-9 11953884
50
Deoxycholic acid Approved Phase 3 83-44-3 222528

Interventional clinical trials:

(show top 50) (show all 2005)
# Name Status NCT ID Phase Drugs
1 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
2 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)
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 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4 decitabine
5 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
6 SMD/ATG-CSA: Antithymocyte Globulin and Cyclosporine in Treating Low Risk Patients With Myelodysplastic Syndrome Completed NCT00488436 Phase 4 Antithymocyte globulin;Cyclosporine
7 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
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 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
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 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
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 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
16 An Open Label, Safety and Tolerability Study of Deferasirox for Treatment of Transfusional Iron Overload in Low-Risk and INT-1 Myelodysplastic Patients Completed NCT00117507 Phase 4 Deferasirox
17 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
18 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
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 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
21 Pharmacokinetics of Posaconazole (Noxafil®) as Prophylaxis for Invasive Fungal Infections Completed NCT02805946 Phase 4 posaconazole
22 Evaluation of Antibody Response to High-Dose Seasonal Influenza Vaccination in Patients With Myeloid Malignancy Receiving Chemotherapy Recruiting NCT04484532 Phase 4
23 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
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 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
28 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
29 A Trial for Older Patients With Acute Myeloid Leukaemia and High Risk Myelodysplastic Syndrome Unknown status NCT02272478 Phase 2, Phase 3 Arm A Mylotarg plus DA Versus CPX-351;Arm B Vosaroxin and Decitabine;Arm D Small molecule or Not;Arm C DA V FLAG-Ida V DAC;Arm E CPX-351 (200 V 300);Arm F DA V IDAC
30 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
31 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
32 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
33 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
34 A Randomized Trial of Recombinant Human Thrombopoietin Versus Placebo for Low/Intermediate-1 Risk Myelodysplastic Syndromes With Thrombocytopenia Unknown status NCT04324060 Phase 2, Phase 3 Danazol + rhTPO (recombinant human thrombopoietin injection);Danazol + sodium chloride
35 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
36 Prospective Study of the Diagnosis and Treatment of Myelodysplastic Syndromes (MDS) in Childhood Unknown status NCT00047268 Phase 3 cytarabine;mercaptopurine
37 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
38 Decitabine and Arsenic Trioxide(ATO) in the Treatment of Myelodysplasic Syndrome Unknown status NCT03377725 Phase 3 Decitabine;Arsenic Trioxide
39 Efficiency of Antibacterial Prophylaxis (Levofloxacin) in Azacitidine Treated Patients Unknown status NCT03594149 Phase 3 Levofloxacin
40 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
41 A Phase II Prospective Randomized Trial of Donor T-memory Cells (CD45RA Depleted) Infusion for Prevention of Infections After Allogeneic TcRαβ/CD19-depleted Hematopoietic Stem Cell Transplantation Unknown status NCT02942173 Phase 2, Phase 3
42 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
43 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
44 A Phase III Randomized Study of Farnesyl Transferase Inhibitor R115777 in Acute Myeloid Leukemia (AML) Patients in Second or Subsequent Remission or in Remission After Primary Induction Failure or Patients Over Age 60 in First Remission Completed NCT00093470 Phase 3 Tipifarnib
45 A Multi-center Phase III Study Comparing Myeloablative to Nonmyeloablative Transplant Conditioning in Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Completed NCT00322101 Phase 3 cyclophosphamide;mycophenolate mofetil;busulfan;cyclosporine;fludarabine phosphate;tacrolimus;methotrexate
46 Randomized Study of Procrit vs no Procrit in Patients With Newly Diagnosed Acute Myelogenous Leukemia (AML) or High-risk Myelodysplastic Syndrome (MDS) Undergoing Frontline Myelosuppressive Induction/Consolidation Chemotherapy Completed NCT00656448 Phase 3 Procrit
47 Randomized Comparison of Once-daily Intravenous Busulfan Plus Cyclophosphamide Versus Fludarabine as a Conditioning Regimen for Allogeneic Hematopoietic Cell Transplantation in Leukemia and Myelodysplastic Syndrome Completed NCT00774280 Phase 3 BuCy vs BuFlu
48 A Randomized Study of Once Daily IV Busulfan With Fludarabine With Hemopoietic Stem Cell Transplantation for Acute Myelogenous Leukemia (AML) and Myelodysplastic Syndrome (MDS) Completed NCT00469144 Phase 3 Busulfan;Fludarabine
49 A Programme of Treatment Development for Older Patients With Acute Myeloid Leukemia and High Risk Myelodysplastic Syndrome Completed NCT00454480 Phase 2, Phase 3 arsenic trioxide;azacitidine;busulfan;clofarabine;cytarabine;daunorubicin hydrochloride;fludarabine phosphate;gemtuzumab ozogamicin;melphalan;tipifarnib
50 Open Label, Multicenter Study to Evaluate Safety/Tolerability and Efficacy of Deferasirox (ICL670) in Myelodysplastic Syndrome Patients With Chronic Transfusional Hemosiderosis. Completed NCT00469560 Phase 3 Deferasirox

Search NIH Clinical Center for Myelodysplastic Syndrome

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


decitabine

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Myelodysplastic Syndrome cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: myelodysplastic syndromes

Genetic Tests for Myelodysplastic Syndrome

Genetic tests related to Myelodysplastic Syndrome:

# Genetic test Affiliating Genes
1 Myelodysplastic Syndrome 28 ASXL1 GATA2 GNB1 SF3B1 TET2
2 Myelodysplasia 28

Anatomical Context for Myelodysplastic Syndrome

Organs/tissues related to Myelodysplastic Syndrome:

MalaCards : Bone Marrow, Myeloid, Bone, T Cells, Nk Cells, Placenta, Skin
ODiseA: Blood And Bone Marrow
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

Publications for Myelodysplastic Syndrome

Articles related to Myelodysplastic Syndrome:

(show top 50) (show all 21909)
# Title Authors PMID Year
1
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 62 57 5
21892162 2011
2
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. 62 5
32098966 2020
3
Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. 62 57
30322869 2018
4
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia. 62 5
27133828 2016
5
Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. 62 5
26944477 2016
6
Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression. 62 5
23861105 2013
7
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. 62 57
21995386 2011
8
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 62 5
21670465 2011
9
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 62 5
21765025 2011
10
Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. 62 57
21415852 2011
11
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. 62 5
20040766 2010
12
Mutation in TET2 in myeloid cancers. 62 57
19474426 2009
13
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 62 5
18723428 2008
14
Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome. 62 5
14576046 2004
15
Association of systemic inflammatory and autoimmune manifestations with myelodysplastic syndromes: A systematic review and meta-analysis. 62 41
36401363 2022
16
Comparative diagnostic accuracy between simplified and original flow cytometric gating strategies for peripheral blood neutrophil myeloperoxidase expression in ruling out myelodysplastic syndromes. 62 41
36399441 2022
17
Abnormal platelet immunophenotypes and percentage of giant platelets in myelodysplastic syndrome: A pilot study. 62 41
36409726 2022
18
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. 5
30194818 2018
19
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 5
27108799 2016
20
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 5
26619011 2016
21
Effect of mutation order on myeloproliferative neoplasms. 57
25671252 2015
22
Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 5
25485910 2015
23
Distinctive microRNA expression profiles in CD34+ bone marrow cells from patients with myelodysplastic syndrome. 62 46
21150891 2011
24
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. 5
21242295 2011
25
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 5
20550934 2010
26
Clinical advances in hypomethylating agents targeting epigenetic pathways. 53 62
20384584 2010
27
WT1 expression levels at diagnosis could predict long-term time-to-progression in adult patients affected by acute myeloid leukaemia and myelodysplastic syndromes. 53 62
20085581 2010
28
Effects of a novel DNA methyltransferase inhibitor zebularine on human breast cancer cells. 53 62
19459041 2010
29
[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]. 53 62
20448361 2010
30
GSTT1 and GSTM1 polymorphisms and myelodysplastic syndrome risk: a systematic review and meta-analysis. 53 62
19816935 2010
31
Significant inverse correlation of microRNA-150/MYB and microRNA-222/p27 in myelodysplastic syndrome. 53 62
19615744 2010
32
Novel approaches for myelodysplastic syndromes: beyond hypomethylating agents. 53 62
20178141 2010
33
Significance of JAK2 and TET2 mutations in myelodysplastic syndromes. 53 62
20171768 2010
34
Biased usage of BV gene families of T-cell receptors of WT1 (Wilms' tumor gene)-specific CD8+ T cells in patients with myeloid malignancies. 53 62
20132220 2010
35
Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia. 53 62
20064152 2010
36
Expression of WT1 gene in multiple myeloma patients at diagnosis: is WT1 gene expression a useful marker in multiple myeloma? 53 62
20132661 2010
37
Treatment with mycophenolate mofetil followed by recombinant human erythropoietin in patients with low-risk myelodysplastic syndromes resistant to erythropoietin treatment. 53 62
20139394 2010
38
Platelet-derived growth factor beta receptor (PDGFRB) gene is rearranged in a significant percentage of myelodysplastic syndromes with normal karyotype. 53 62
19758395 2009
39
Comparative analysis of G-CSFR and GM-CSFR expressions on CD34+ cells in patients with aplastic anemia and myelodysplastic syndrome. 53 62
18637807 2009
40
Myeloproliferative neoplasms: contemporary diagnosis using histology and genetics. 53 62
19806146 2009
41
MDS and secondary AML display unique patterns and abundance of aberrant DNA methylation. 53 62
19652201 2009
42
The ambiguous role of interferon regulatory factor-1 (IRF-1) immunoexpression in myelodysplastic syndrome. 53 62
19345417 2009
43
Inducible expression of EVI1 in human myeloid cells causes phenotypes consistent with its role in myelodysplastic syndromes. 53 62
19605700 2009
44
Relationship between expression of mutant type glutathione S-transferase theta-1 gene and reactivity of rapamycin in myelodysplastic syndrome. 53 62
19843381 2009
45
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. 53 62
19546476 2009
46
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). 53 62
19564636 2009
47
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. 53 62
19672772 2009
48
Assessment of ATRX expression in patients with myelodysplastic syndromes treated with decitabine. 53 62
19157545 2009
49
Phase II study of rabbit anti-thymocyte globulin, cyclosporine and granulocyte colony-stimulating factor in patients with aplastic anemia and myelodysplastic syndrome. 53 62
19242494 2009
50
Epigenetic modifiers: basic understanding and clinical development. 53 62
19509169 2009

Variations for Myelodysplastic Syndrome

ClinVar genetic disease variations for Myelodysplastic Syndrome:

5 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DDX41 NM_016222.4(DDX41):c.370C>T (p.Arg124Ter) SNV Pathogenic
978205 rs1297703150 GRCh37: 5:176943123-176943123
GRCh38: 5:177516122-177516122
2 ASXL1 NM_015338.6(ASXL1):c.2100T>A (p.Tyr700Ter) SNV Pathogenic
548120 rs1261178797 GRCh37: 20:31022615-31022615
GRCh38: 20:32434812-32434812
3 MT-TL1 m.3242G>A SNV Pathogenic
9600 rs193303018 GRCh37: MT:3242-3242
GRCh38: MT:3242-3242
4 TET2-AS1, TET2 NM_001127208.3(TET2):c.2029_2032del (p.Cys677fs) MICROSAT Pathogenic
1686257 GRCh37: 4:106157126-106157129
GRCh38: 4:105235969-105235972
5 RUNX1 NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs) DEL Pathogenic
1013621 rs2056458051 GRCh37: 21:36164781-36164787
GRCh38: 21:34792484-34792490
6 DDX41 NM_016222.4(DDX41):c.1621+5G>T SNV Pathogenic
1698850 GRCh37: 5:176939318-176939318
GRCh38: 5:177512317-177512317
7 SAMD9 NM_017654.4(SAMD9):c.4008_4011dup (p.Ala1338fs) DUP Pathogenic
1708316 GRCh37: 7:92731399-92731400
GRCh38: 7:93102086-93102087
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_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) SNV Pathogenic
30986 rs373145711 GRCh37: 20:31021211-31021211
GRCh38: 20:32433408-32433408
10 DDX41 NM_016222.4(DDX41):c.712C>A (p.Pro238Thr) SNV Pathogenic
403734 rs376093707 GRCh37: 5:176942003-176942003
GRCh38: 5:177515002-177515002
11 DDX41 NM_016222.4(DDX41):c.3G>A (p.Met1Ile) SNV Pathogenic
224637 rs141601766 GRCh37: 5:176943944-176943944
GRCh38: 5:177516943-177516943
12 DDX41 NM_016222.4(DDX41):c.155dup (p.Arg53fs) DUP Pathogenic
978202 rs766117035 GRCh37: 5:176943431-176943432
GRCh38: 5:177516430-177516431
13 TP53 NM_000546.6(TP53):c.743G>C (p.Arg248Pro) SNV Likely Pathogenic
237954 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
14 TP53 NM_000546.6(TP53):c.743G>T (p.Arg248Leu) SNV Likely Pathogenic
230253 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
15 GATA2 NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) SNV Risk Factor
29711 rs387906631 GRCh37: 3:128200744-128200744
GRCh38: 3:128481901-128481901
16 IDH2 NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) SNV Likely Pathogenic
14716 rs121913502 GRCh37: 15:90631934-90631934
GRCh38: 15:90088702-90088702
17 IDH2 NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) SNV Likely Pathogenic
375989 rs267606870 GRCh37: 15:90631935-90631935
GRCh38: 15:90088703-90088703
18 IDH2 NM_002168.4(IDH2):c.419G>T (p.Arg140Leu) SNV Likely Pathogenic
375988 rs121913502 GRCh37: 15:90631934-90631934
GRCh38: 15:90088702-90088702
19 IDH1 NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) SNV Likely Pathogenic
375891 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
20 NRAS NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) SNV Likely Pathogenic
40469 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
21 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val) SNV Likely Pathogenic
40470 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
22 DNMT3A NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) SNV Likely Pathogenic
375880 rs147001633 GRCh37: 2:25457242-25457242
GRCh38: 2:25234373-25234373
23 U2AF1 NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) SNV Likely Pathogenic
376026 rs371769427 GRCh37: 21:44524456-44524456
GRCh38: 21:43104346-43104346
24 GATA2 NC_000003.11:g.(128203154_128202733)_(128202028_128201205)del DEL Likely Pathogenic
975812 GRCh37:
GRCh38:
25 DNMT3A NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) SNV Likely Pathogenic
375882 rs377577594 GRCh37: 2:25457243-25457243
GRCh38: 2:25234374-25234374
26 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) SNV Likely Pathogenic
39648 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
27 NRAS NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) SNV Likely Pathogenic
219097 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
28 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) SNV Likely Pathogenic
177778 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
29 DNMT3A NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) SNV Likely Pathogenic
375881 rs147001633 GRCh37: 2:25457242-25457242
GRCh38: 2:25234373-25234373
30 HRAS, LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Likely Pathogenic
12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
31 IDH1 NM_005896.4(IDH1):c.395G>A (p.Arg132His) SNV Likely Pathogenic
156444 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388
32 HRAS, LRRC56 NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Likely Pathogenic
12603 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
33 TP53 NM_000546.6(TP53):c.742C>T (p.Arg248Trp) SNV Likely Pathogenic
12347 rs121912651 GRCh37: 17:7577539-7577539
GRCh38: 17:7674221-7674221
34 TP53 NM_000546.6(TP53):c.742C>G (p.Arg248Gly) SNV Likely Pathogenic
376652 rs121912651 GRCh37: 17:7577539-7577539
GRCh38: 17:7674221-7674221
35 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Likely Pathogenic
12356 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
36 HRAS, LRRC56 NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) SNV Likely Pathogenic
12602 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
37 IDH1 NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) SNV Likely Pathogenic
375889 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388
38 SF3B2 NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) SNV Likely Pathogenic
376533 rs1057519960 GRCh37: 11:65830884-65830884
GRCh38: 11:66063413-66063413
39 NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) SNV Likely Pathogenic
13899 rs121434595 GRCh37: 1:115258745-115258745
GRCh38: 1:114716124-114716124
40 NRAS NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) SNV Likely Pathogenic
13901 rs121434596 GRCh37: 1:115258744-115258744
GRCh38: 1:114716123-114716123
41 IDH1 NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) SNV Likely Pathogenic
375893 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
42 NRAS NM_002524.5(NRAS):c.38G>T (p.Gly13Val) SNV Likely Pathogenic
375876 rs121434596 GRCh37: 1:115258744-115258744
GRCh38: 1:114716123-114716123
43 IDH1 NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) SNV Likely Pathogenic
375892 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
44 NRAS NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) SNV Likely Pathogenic
40468 rs121913250 GRCh37: 1:115258748-115258748
GRCh38: 1:114716127-114716127
45 ASXL1 NM_015338.6(ASXL1):c.2068_2069del (p.Asp690fs) DEL Likely Pathogenic
1705316 GRCh37: 20:31022582-31022583
GRCh38: 20:32434779-32434780
46 U2AF1 NM_006758.3(U2AF1):c.101C>T (p.Ser34Phe) SNV Likely Pathogenic
376025 rs371769427 GRCh37: 21:44524456-44524456
GRCh38: 21:43104346-43104346
47 TET2-AS1, TET2 NM_001127208.3(TET2):c.3804-2A>C SNV Likely Pathogenic
1686651 GRCh37: 4:106180774-106180774
GRCh38: 4:105259617-105259617
48 TERT NM_198253.3(TERT):c.1990G>C (p.Val664Leu) SNV Likely Pathogenic
212400 rs797046042 GRCh37: 5:1279546-1279546
GRCh38: 5:1279431-1279431
49 GATA2 NM_032638.5(GATA2):c.1065_1067del (p.Thr358del) DEL Risk Factor
29722 rs1576745225 GRCh37: 3:128200738-128200740
GRCh38: 3:128481895-128481897
50 ASXL1 NM_015338.6(ASXL1):c.2862C>A (p.Asp954Glu) SNV Uncertain Significance
930236 rs752471895 GRCh37: 20:31023377-31023377
GRCh38: 20:32435574-32435574

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

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

Copy number variations for Myelodysplastic Syndrome from CNVD:

6 (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

Expression for Myelodysplastic Syndrome

Search GEO for disease gene expression data for Myelodysplastic Syndrome.

Pathways for Myelodysplastic Syndrome

GO Terms for Myelodysplastic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of peroxisome proliferator activated receptor signaling pathway GO:0035359 8.8 MIR34A ASXL1

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

# Name GO ID Score Top Affiliating Genes
1 mRNA base-pairing translational repressor activity GO:1903231 8.92 MIR378A MIR34A MIR127 MIR10A

Sources for Myelodysplastic Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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