MCID: MYL009
MIFTS: 75

Myelodysplastic Syndrome

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Myelodysplastic Syndrome

MalaCards integrated aliases for Myelodysplastic Syndrome:

Name: Myelodysplastic Syndrome 53 12 71 36 28 13 14 37 69
Myelodysplastic Syndromes 37 72 49 51 40 41
Mds 53 49 71
Myelodysplastic Syndrome, Somatic 53 13
Myelodysplasia 49 28
Myelodysplastic Syndrome, Susceptibility to, Included 53
Myelodysplastic Syndrome, Susceptibility to 53
Myelodysplastic Syndrome Included 53

Characteristics:

HPO:

31
myelodysplastic syndrome:
Inheritance somatic mutation


Classifications:



External Ids:

OMIM 53 614286
Disease Ontology 12 DOID:0050908
MeSH 41 D009190
MedGen 39 C3463824
KEGG 36 H01481
ICD10 32 D46

Summaries for Myelodysplastic Syndrome

MedlinePlus : 40 Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. Many of them die in the bone marrow. This means that you do not have enough healthy cells, which can lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. If you have symptoms, they may include Shortness of breath Weakness or feeling tired Skin that is paler than usual Easy bruising or bleeding Pinpoint spots under the skin caused by bleeding Fever or frequent infections Myelodysplastic syndromes are rare. People at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. Treatment options include transfusions, drug therapy, chemotherapy, and blood or bone marrow stem cell transplants. NIH: National Cancer Institute

MalaCards based summary : Myelodysplastic Syndrome, also known as myelodysplastic syndromes, is related to myelodysplastic myeloproliferative cancer and refractory anemia with excess blasts, and has symptoms including myelodysplasia 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 Busulfex and Lynparza have been mentioned in the context of this disorder. Affiliated tissues include Placenta and Umbilical Cord, and related phenotypes are hematopoietic system and cellular

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

NIH Rare Diseases : 49 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. Last updated: 8/16/2017

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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 : 72 Myelodysplastic syndromes (MDS) are a group of cancers in which immature blood cells in the bone marrow... 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 381)
# Related Disease Score Top Affiliating Genes
1 myelodysplastic myeloproliferative cancer 33.3 ASXL1 HRAS NRAS PTPN11 SETBP1 TET2
2 refractory anemia with excess blasts 33.3 ASXL1 GATA2 SETBP1 TET2 U2AF1
3 juvenile myelomonocytic leukemia 33.1 FLT3 NRAS PTPN11 RUNX1 SETBP1 TET2
4 aplastic anemia 32.9 ASXL1 FLT3 GATA2 TET2
5 myeloproliferative neoplasm 32.9 ETV6 PTPN11 TET2
6 refractory anemia 32.4 ASXL1 RUNX1 TET2
7 leukemia 32.2 ETV6 FLT3 MLF1 NPM1 NRAS PTPN11
8 myeloid leukemia 31.8 ETV6 FLT3 GATA2 MLF1 NPM1 NUP98
9 chronic myelomonocytic leukemia 31.6 ASXL1 ETV6 FLT3 RUNX1 SETBP1 TET2
10 acute leukemia 31.5 ETV6 FLT3 RUNX1 WT1
11 leukemia, acute myeloid 31.4 ASXL1 ETV6 FLT3 GATA2 HRAS MLF1
12 myelofibrosis 31.0 ASXL1 FLT3 HRAS TET2 U2AF1
13 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 30.8 ETV6 FLT3 RUNX1
14 acute promyelocytic leukemia 30.8 FLT3 IRF1 NPM1 NRAS RUNX1
15 cytogenetically normal acute myeloid leukemia 30.4 FLT3 NPM1 WT1
16 aleukemic leukemia cutis 30.4 FLT3 NPM1 RUNX1
17 mn1 30.3 ETV6 FLT3
18 leukemia, acute lymphoblastic 3 30.3 ETV6 FLT3 RUNX1
19 leukemia, chronic myeloid 29.9 ETV6 FLT3 GATA2 HRAS NRAS NUP98
20 chromosome 5q deletion syndrome 12.1
21 unclassified myelodysplastic syndrome 12.1
22 acute myeloid leukemia and myelodysplastic syndromes related to radiation 12.1
23 therapy related acute myeloid leukemia and myelodysplastic syndrome 12.0
24 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent 11.9
25 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor 11.9
26 muscular dystrophy 11.7
27 miller-dieker lissencephaly syndrome 11.6
28 alpha-thalassemia myelodysplasia syndrome 11.4
29 dyskeratosis congenita 11.2
30 shwachman-diamond syndrome 11.2
31 sea-blue histiocyte disease 11.2
32 neutropenia, severe congenital, 3, autosomal recessive 11.2
33 diamond-blackfan anemia 11.2
34 littoral cell angioma of the spleen 11.2
35 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.0
36 anemia, congenital dyserythropoietic, type iii 10.8
37 ataxia-pancytopenia syndrome 10.8
38 pelger-huet anomaly 10.8
39 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 10.8
40 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.8
41 myeloproliferative/lymphoproliferative neoplasms, familial 10.8
42 acute myeloblastic leukemia without maturation 10.8 FLT3 NPM1
43 acute myeloblastic leukemia with maturation 10.8 FLT3 NPM1
44 atypical chronic myeloid leukemia 10.8 ASXL1 RUNX1 SETBP1
45 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.8 FLT3 RUNX1
46 platelet disorder, familial, with associated myeloid malignancy 10.7 ETV6 RUNX1
47 leukemia, acute lymphoblastic 10.7 ETV6 FLT3 GATA2 RUNX1
48 congenital mesoblastic nephroma 10.7 ETV6 NRAS WT1
49 acquired idiopathic sideroblastic anemia 10.7 SF3B1 TET2
50 bone marrow cancer 10.7 ETV6 FLT3 PTPN11 RUNX1

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



Diseases related to Myelodysplastic Syndrome

Symptoms & Phenotypes for Myelodysplastic Syndrome

Clinical features from OMIM:

614286

Human phenotypes related to Myelodysplastic Syndrome:

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

MGI Mouse Phenotypes related to Myelodysplastic Syndrome:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.32 NPM1 NRAS NUP98 PRDM16 PTPN11 RUNX1
2 cellular MP:0005384 10.31 ASXL1 ETV6 FLT3 GATA2 IRF1 NPM1
3 growth/size/body region MP:0005378 10.31 ASXL1 ETV6 FLT3 GATA2 HRAS NPM1
4 cardiovascular system MP:0005385 10.29 ETV6 GATA2 HRAS IRF1 NPM1 NRAS
5 endocrine/exocrine gland MP:0005379 10.29 GATA2 HRAS IRF1 NRAS PRDM16 PTPN11
6 homeostasis/metabolism MP:0005376 10.27 PTPN11 RUNX1 SETBP1 SF3B1 WT1 ASXL1
7 immune system MP:0005387 10.25 IRF1 NPM1 NRAS NUP98 PRDM16 ASXL1
8 mortality/aging MP:0010768 10.22 ASXL1 ETV6 FLT3 GATA2 HRAS IRF1
9 embryo MP:0005380 10.13 ETV6 GATA2 NPM1 NRAS NUP98 PTPN11
10 liver/biliary system MP:0005370 10.02 ASXL1 GATA2 NPM1 NRAS PRDM16 PTPN11
11 integument MP:0010771 10.01 PTPN11 RUNX1 ETV6 HRAS IRF1 NPM1
12 neoplasm MP:0002006 10 ASXL1 ETV6 FLT3 HRAS IRF1 NPM1
13 no phenotypic analysis MP:0003012 9.76 ETV6 FLT3 HRAS NRAS PTPN11 RUNX1
14 normal MP:0002873 9.65 PRDM16 PTPN11 RUNX1 TET2 WT1 ETV6
15 skeleton MP:0005390 9.28 ASXL1 FLT3 HRAS IRF1 NRAS PRDM16

Drugs & Therapeutics for Myelodysplastic Syndrome

FDA approved drugs:

# Drug Name Active Ingredient(s) 17 Company Approval Date
1
Busulfex 17 45 BUSULFAN Orphan Medical February 1999
2
Lynparza 17 45 OLAPARIB AstraZeneca December 2014
3
Revlimid 17 45 LENALIDOMIDE Celgene June 2013

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

(show top 50) (show all 592)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azacitidine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 320-67-2 9444
2
Decitabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 2353-33-5 451668
3
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
4
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7439-89-6 23925
5
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147-94-4 6253
6
Fludarabine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 21679-14-1, 75607-67-9 30751
7
Idarubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 58957-92-9 42890
8
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 55-98-1 2478
9
Vidarabine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 24356-66-9 21704 32326
10
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
11
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 135968-09-1
12 Thiotepa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 52-24-4 5453
13
Deferasirox Approved, Investigational Phase 4,Phase 3,Phase 2 201530-41-8 5493381
14
Piperacillin Approved Phase 4,Phase 3 66258-76-2 43672
15
Tazobactam Approved Phase 4,Phase 3 89786-04-9 123630
16
Posaconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 171228-49-2 147912
17
Micafungin Approved, Investigational Phase 4,Phase 2 235114-32-6 477468 3081921
18
Radium Ra 223 dichloride Approved, Investigational Phase 4 444811-40-9
19
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2 67-97-0 10883523 5280795 6221
20
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2 50-14-6 5280793
21
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 1406-16-2
22 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
23 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Antilymphocyte Serum Phase 4,Phase 3,Phase 2,Phase 1
27 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Calcineurin Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Cyclosporins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
30 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
31 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
32 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
33 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
34 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
35 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
36 Epoetin alfa Phase 4,Phase 2,Phase 3,Phase 1 113427-24-0
37 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
38 Topoisomerase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
39 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
40 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
41 Hematinics Phase 4,Phase 3,Phase 2,Phase 1
42 Antiparasitic Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
44 Hormones Phase 4,Phase 3,Phase 2,Phase 1
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
46 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Vitamins Phase 4,Phase 2,Phase 3,Phase 1
48 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
49 Iron Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
50 beta-Lactamase Inhibitors Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 1869)

# Name Status NCT ID Phase Drugs
1 A Phase Ⅳ Study of Decitabine in Myelodysplastic Syndrome Unknown status NCT02013102 Phase 4 Decitabine Injection
2 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4 decitabine
3 Antithymocyte Globulin and Cyclosporine in Treating Low Risk Patients With Myelodysplastic Syndrome Completed NCT00488436 Phase 4 Antithymocyte globulin;Cyclosporine
4 Study of Azacitidine in Adult Taiwanese Subjects With Higher-Risk Myelodysplastic Syndromes (MDS) Completed NCT01201811 Phase 4 Azacitidine
5 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
6 An Observational Study for Dacogen Long-Term Treatment in Patients With Myelodysplastic Syndrome Completed NCT01400633 Phase 4 decitabine injection
7 A Study for Dacogen Treatment in Patients With Myelodysplastic Syndrome Completed NCT01041846 Phase 4 No intervention
8 Survey on QUality of Life In myeloDisplasia (SQUID) Completed NCT00967564 Phase 4
9 SMD_FLAG-IDA_98: FLAG-IDA in Induction Treatment of High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia Completed NCT00487448 Phase 4 Fludarabine;Cytarabine;G-CSF;Idarubicin
10 Evaluation the Effect of Exjade on Oxidative Stress in Low Risk Myelodysplastic Syndrome Patients With Iron Over Load Completed NCT00452660 Phase 4 Exjade
11 Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndrome and Transfusion-dependent Iron Overload Completed NCT00481143 Phase 4 ICL670/Deferasirox
12 This Study Will Evaluate Efficacy and Safety of Deferasirox in Patients With Myelodysplastic Syndromes (MDS), Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
13 Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload Completed NCT00673608 Phase 4 deferasirox
14 Busulfan Safety/Efficacy as Conditioning Prior to Hematopoietic Cell Transplantation (HCT) Completed NCT00361140 Phase 4 Busulfan;Fludarabine
15 Bone Marrow Transplantation in Treating Patients With Hematologic Cancer Completed NCT00003398 Phase 4 cyclophosphamide;thiotepa
16 Study Comparing Piperacillin-tazobactam Versus Piperacillin-tazobactam Plus Glycopeptide in Neutropenic Patients Completed NCT00195533 Phase 4 piperacillin-tazobactam;glycopeptide
17 Analysis of Data Collected in the European Group for Blood and Marrow Transplantation (EBMT) Registry for Off-Label Transplant Use of Plerixafor Completed NCT01362985 Phase 4
18 Eculizumab Pharmacokinetics/Pharmacodynamics Study in Pediatric/Adolescent PNH Subjects Completed NCT00867932 Phase 4 Eculizumab
19 A Study of Epoetin Beta Treatment in Anemic Participants With Myelodysplastic Syndrome (MDS) Recruiting NCT02145026 Phase 4 Epoetin beta
20 Pharmacokinetics of Posaconazole (Noxafil®) as Prophylaxis for Invasive Fungal Infections Recruiting NCT02805946 Phase 4 posaconazole
21 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 Active, not recruiting NCT01200355 Phase 4 micafungin;posaconazole
22 A Rollover Study to Provide Continued Treatment With Eltrombopag Active, not recruiting NCT01957176 Phase 4 ELT
23 Radium-223 Dichloride Long-term Follow-up Program Active, not recruiting NCT02312960 Phase 4
24 Myelodysplastic Syndrome--CDA-2 Hematological Improvement National Affirmation Study Not yet recruiting NCT03335943 Phase 4 CDA-2 (Cell Differentiation Agent 2)
25 Busulfan and Cyclophosphamide Instead of Total Boby Irradiation (TBI) and Cyclophosphamide for Hematological Malignancies Hematocrit (HCT) Not yet recruiting NCT01339988 Phase 4 Busulfan/Cyclophosphamide
26 King's Invasive Aspergillosis Study II Not yet recruiting NCT02875743 Phase 4 Posaconazole
27 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
28 A Phase II Pilot Study to Assess the Presence of Molecular Factors Predictive for Hematologic Response in Myelodysplastic Syndrome Patients Receiving Deferasirox Therapy. Terminated NCT02663752 Phase 4 Deferasirox
29 Myelodysplastic Syndrome (MDS) Gastrointestinal (GI) Tolerability Study Terminated NCT01326845 Phase 4 Deferasirox
30 To Demonstrate Superiority of Decitabine Over Azacitidine in Subjects With Intermediate- or High-risk MDS. Terminated NCT01011283 Phase 4 decitabine;azacitidine
31 Transfusion Effects in Myelodysplastic Patients: Limiting Exposure Withdrawn NCT00202371 Phase 4
32 The Effect of Combination Ultra Q10 and L-carnitine on the Course of Myelodysplastic Syndrome Unknown status NCT02042482 Phase 2, Phase 3
33 Comparison Study of Standard Care Against Combination of Growth Factors Agents for Low-risk Myelodysplastic Syndromes Unknown status NCT01196715 Phase 3 Darbepoetin alpha;Filgrastim
34 Erythropoietin (EPO) and Granulocyte-Colony Stimulating Factor (G-CSF) for Low-Risk Myelodysplastic Syndromes (MDS) Unknown status NCT00234143 Phase 2, Phase 3 Darbepoetin
35 Combination Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Unknown status NCT00002926 Phase 3 cytarabine;etoposide;idarubicin
36 Low-Dose Decitabine Compared With Standard Supportive Care in Treating Older Patients With Myelodysplastic Syndrome Unknown status NCT00043134 Phase 3 decitabine
37 Combination Chemotherapy With or Without Idarubicin and Peripheral Stem Cell Transplantation in Treating Patients With Leukemia or Myelodysplastic Syndrome Unknown status NCT00002989 Phase 3 busulfan;cyclophosphamide;idarubicin;melphalan
38 Donor Stem Cell Transplant With or Without Chemotherapy in Treating Children With Primary Myelodysplastic Syndrome Unknown status NCT00047268 Phase 3 cytarabine;mercaptopurine
39 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
40 Efficacy Study of CHG Regimen vs Decitabine to Treat Higher-risk MDS Unknown status NCT01417767 Phase 2, Phase 3 CHG regimen;5-aza-deoxycytidine
41 Combination Chemotherapy in Treating Older Patients With Acute Myeloid Leukemia Unknown status NCT00003602 Phase 3 cytarabine;etoposide;idarubicin;mitoxantrone hydrochloride
42 Prospective Study of Patients With Thrombocytopenia Following HSCT Unknown status NCT02487563 Phase 3 decitabine;rhTPO
43 Bone Marrow Angiogenesis in Acute Myeloid Leukemia - Evaluated by Dynamic Contrast Enhanced Magnetic Resonance (MR) Image Unknown status NCT00172562 Phase 3
44 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
45 Thymoglobulin in Unrelated Hematopoietic Progenitor Cell Transplantation Unknown status NCT01217723 Phase 3
46 The Impact of Red Cell Age on Product Utilization in the Chronically Transfused Outpatient Population Unknown status NCT02393508 Phase 3
47 Bowel Preparation and Prokinetics in Capsule Endoscopy Unknown status NCT00275184 Phase 3 Senna;Citramag powder;Metoclopramide
48 Treatment of Adults Aged Up to 60 Years With De Novo Acute Myeloblastic Leukaemia,Secondary AML, or RAEB-T Unknown status NCT00209833 Phase 2, Phase 3 Cytarabine;Idarubicin;Etoposide;Fludarabine;G-CSF;Daunorubicine
49 An Effectiveness and Safety Study of Decitabine in Patients With Myelodysplastic Syndrome Completed NCT01751867 Phase 3 Decitabine at 15 mg/m2;Decitabine at 20 mg/m2
50 An Efficacy Study for Epoetin Alfa in Anemic Patients With Myelodysplastic Syndromes Completed NCT01381809 Phase 3 Group 2: Placebo;Group 1: Epoetin alfa

Search NIH Clinical Center for Myelodysplastic Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 SF3B1 TET2
2 Myelodysplasia 28

Anatomical Context for Myelodysplastic Syndrome

MalaCards organs/tissues related to Myelodysplastic Syndrome:

38
Myeloid, Bone, Bone Marrow, T Cells, Testes, Nk Cells, Lung
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 2281)
# Title Authors Year
1
Partial tandem duplication of KMT2A (MLL) may predict a subset of myelodysplastic syndrome with unique characteristics and poor outcome. ( 29351983 )
2018
2
Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying<i>SETBP1</i>mutation. ( 29435294 )
2018
3
The role of T2*-weighted gradient echo in the diagnosis of tumefactive intrahepatic extramedullary hematopoiesis in myelodysplastic syndrome and diffuse hepatic iron overload: a case report and review of the literature. ( 29332607 )
2018
4
Discriminating myelodysplastic syndrome and other myeloid malignancies from non-clonal disorders by multiparametric analysis of automated cell data. ( 29378171 )
2018
5
Clinical Features and Outcomes of 666 Cases with Therapy-Related Myelodysplastic Syndrome (t-MDS). ( 29398804 )
2018
6
Association of red cell distribution width with clinical outcomes in myelodysplastic syndrome. ( 29433052 )
2018
7
Leptin-deficient obesity prolongs survival in a murine model of myelodysplastic syndrome. ( 29371326 )
2018
8
A decade of progress in myelodysplastic syndrome with chromosome 5q deletion. ( 29445113 )
2018
9
Systematic review of azacitidine regimens in myelodysplastic syndrome and acute myeloid leukemia. ( 29435331 )
2018
10
Growth factor independence 1b. A key player in the genesis and maintenance of acute myeloid leukaemia and myelodysplastic syndrome. ( 29326122 )
2018
11
CD41 immune staining of micromegakaryocytes improves the diagnosis of myelodysplastic syndrome and differentiation from pancytopenia. ( 29353154 )
2018
12
Harnessing the PD-1 Pathway in Myelodysplastic Syndrome. ( 29394170 )
2018
13
Myelodysplastic Syndrome Splicing Factor Mutations Induce R-Loops. ( 29439150 )
2018
14
Overexpression of Arginase 1 is linked to DNMT3A and TET2 mutations in lower-grade myelodysplastic syndromes and chronic myelomonocytic leukemia. ( 29227812 )
2018
15
Leukocyte Cell Population Data Provide Clues for Myelodysplastic Syndrome in a 79-Year-old Male. ( 29398825 )
2018
16
Successful Treatment of Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Neuro-Sweet Disease in Myelodysplastic Syndrome. ( 29225251 )
2018
17
Lenalidomide therapy in patients with myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T). ( 29067707 )
2018
18
Indeterminate Dendritic Cell Sarcoma in a Patient With Myelodysplastic Syndrome. ( 29341959 )
2018
19
Allogeneic Stem Cell Transplantation for Advanced Myelodysplastic Syndrome: Comparison of Outcomes between CD34<sup>+</sup>Selected and Unmodified Hematopoietic Stem Cell Transplantation. ( 29325829 )
2018
20
Secondary Philadelphia chromosome acquired during therapy of acute leukemia and myelodysplastic syndrome. ( 29449681 )
2018
21
[Analysis of VEGF-A/VEGFR1/VEGFR2 gene expression in patients with myelodysplastic syndrome]. ( 28766539 )
2017
22
Screening of mutations in the additional sex combs like 1, transcriptional regulator, tumor protein p53, and KRAS proto-oncogene, GTPase/NRAS proto-oncogene, GTPase genes of patients with myelodysplastic syndrome. ( 28928972 )
2017
23
Myelodysplastic Syndrome, Unclassifiable (MDS-U) With 1% Blasts Is a Distinct Subgroup of MDS-U With a Poor Prognosis. ( 28927162 )
2017
24
Successful use of etoposide for pyoderma gangrenosum associated with myelodysplastic syndrome and trisomy 8: cytokine profiles during treatment. ( 28943508 )
2017
25
Annotating Function to Differentially Expressed LincRNAs in Myelodysplastic Syndrome Using a Network-Based Method. ( 28472271 )
2017
26
CD34(+) megakaryocytes and megakaryocytic fragments in myelodysplastic syndrome. ( 28522465 )
2017
27
Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndrome in a Child With Klinefelter Syndrome. ( 28902077 )
2017
28
Calreticulin mutations are exceedingly rare in patients with myelodysplastic syndromes with myelofibrosis. ( 27730343 )
2017
29
Trend and treatment patterns of aplastic anemia in Korea, pure red cell aplasia and myelodysplastic syndrome in Korea: a nation-wide analysis. ( 28664500 )
2017
30
Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia. ( 28637614 )
2017
31
Over-expression of miR-196b-5p is significantly associated with the progression of myelodysplastic syndrome. ( 28224273 )
2017
32
A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review. ( 28840292 )
2017
33
Splicing factor gene mutations in the myelodysplastic syndromes: impact on disease phenotype and therapeutic applications. ( 27639445 )
2017
34
Wilms Tumor 1 (WT1) mRNA Expression Level at Diagnosis Is a Significant Prognostic Marker in Elderly Patients with Myelodysplastic Syndrome. ( 27866185 )
2017
35
Therapy-related acute myeloid leukemia and myelodysplastic syndrome after hematopoietic cell transplantation for lymphoma. ( 28368379 )
2017
36
Reactive granulomatous dermatitis presenting as subcutaneous nodules and cords in a patient with advanced myelodysplastic syndrome. ( 28220192 )
2017
37
A phase 1/2 study of the WT1 peptide cancer vaccine WT4869 in patients with myelodysplastic syndrome. ( 28949050 )
2017
38
High-grade B-cell lymphoma of the peritoneum as a result of transformation of a CD5-negative monoclonal B lymphocytosis population in a patient with myelodysplastic syndrome treated with 5-azacytidine. ( 28901815 )
2017
39
Clinico-Pathological Spectrum and Novel Karyotypic Findings in Myelodysplastic Syndrome: Experience of Tertiary Care Center in India. ( 28894557 )
2017
40
Increase of DNA damage and alteration of the DNA damage response in myelodysplastic syndromes and acute myeloid leukemias. ( 28359030 )
2017
41
An Unlikely Rapid Transformation of Myelodysplastic Syndrome to Acute Leukemia: A Case Report. ( 28488979 )
2017
42
Clinical and biological significance of isolated Y chromosome loss in myelodysplastic syndromes and chronic myelomonocytic leukemia. A report from the Spanish MDS Group. ( 29121539 )
2017
43
Iron overload promotes erythroid apoptosis through regulating HIF-1a/ROS signaling pathway in patients with myelodysplastic syndrome. ( 28460338 )
2017
44
Fatal Relapse of Myelodysplastic Syndrome in a Patient with HIV/Hepatitis C Coinfection Treated with Simeprevir/Sofosbuvir. ( 28088870 )
2017
45
Bridging-to-transplant with Azacitidine for Myelodysplastic Syndrome and Acute Myeloid Leukemia, Reduces the Incidence of Acute Graft-versus-host Disease. ( 28670436 )
2017
46
Successful treatment of a patient with myelodysplastic syndrome accompanied by pyoderma gangrenosum and BehAset's disease using allogeneic stem cell transplantation. ( 29333411 )
2017
47
DNA-hypomethylating agents as epigenetic therapy before and after allogeneic hematopoietic stem cell transplantation in myelodysplastic syndromes and juvenile myelomonocytic leukemia. ( 29129488 )
2017
48
Mechanisms of Impaired Neutrophil Migration by MicroRNAs in Myelodysplastic Syndromes. ( 28130497 )
2017
49
A nationwide survey of hypoplastic myelodysplastic syndrome (a multicenter retrospective study). ( 28891083 )
2017
50
BCL2L10 positive cells in bone marrow are an independent prognostic factor of azacitidine outcome in myelodysplastic syndrome and acute myeloid leukemia. ( 28514758 )
2017

Variations for Myelodysplastic Syndrome

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

71
# 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

ClinVar genetic disease variations for Myelodysplastic Syndrome:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TL1 m.3242G> A single nucleotide variant Pathogenic rs193303018 GRCh37 Chromosome MT, 3242: 3242
2 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
3 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
4 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
5 HRAS NM_005343.3(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
6 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
7 NRAS NM_002524.4(NRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434595 GRCh37 Chromosome 1, 115258745: 115258745
8 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
9 IDH2 NM_002168.3(IDH2): c.419G> A (p.Arg140Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121913502 GRCh37 Chromosome 15, 90631934: 90631934
10 GATA2 NM_001145661.1(GATA2): c.1061C> T (p.Thr354Met) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs387906631 GRCh37 Chromosome 3, 128200744: 128200744
11 GATA2 GATA2, 3-BP DEL, 1063ACA deletion risk factor
12 NRAS NM_002524.4(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747
13 NRAS NM_002524.4(NRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913250 GRCh37 Chromosome 1, 115258748: 115258748
14 NRAS NM_002524.4(NRAS): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913250 GRCh37 Chromosome 1, 115258748: 115258748
15 NRAS NM_002524.4(NRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747
16 IDH1 NM_001282386.1(IDH1): c.395G> A (p.Arg132His) single nucleotide variant Pathogenic/Likely pathogenic rs121913500 GRCh38 Chromosome 2, 208248388: 208248388
17 NRAS NM_002524.4(NRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121913250 GRCh37 Chromosome 1, 115258748: 115258748
18 NRAS NM_002524.4(NRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913237 GRCh38 Chromosome 1, 114716126: 114716126
19 SF3B1 NM_012433.3(SF3B1): c.1998G> T (p.Lys666Asn) single nucleotide variant Pathogenic/Likely pathogenic rs377023736 GRCh37 Chromosome 2, 198267359: 198267359
20 TP53 NM_000546.5(TP53): c.743G> T (p.Arg248Leu) single nucleotide variant Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
21 TP53 NM_000546.5(TP53): c.743G> C (p.Arg248Pro) single nucleotide variant Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
22 DNMT3A NM_175629.2(DNMT3A): c.2645G> C (p.Arg882Pro) single nucleotide variant Pathogenic/Likely pathogenic rs147001633 GRCh37 Chromosome 2, 25457242: 25457242
23 NRAS NM_002524.4(NRAS): c.38G> T (p.Gly13Val) single nucleotide variant Pathogenic/Likely pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
24 DNMT3A NM_175629.2(DNMT3A): c.2644C> T (p.Arg882Cys) single nucleotide variant Pathogenic/Likely pathogenic rs377577594 GRCh37 Chromosome 2, 25457243: 25457243
25 IDH1 NM_005896.3(IDH1): c.395G> T (p.Arg132Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913500 GRCh37 Chromosome 2, 209113112: 209113112
26 IDH1 NM_001282387.1(IDH1): c.394C> T (p.Arg132Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113
27 IDH1 NM_001282387.1(IDH1): c.394C> G (p.Arg132Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113
28 IDH1 NM_001282387.1(IDH1): c.394C> A (p.Arg132Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121913499 GRCh37 Chromosome 2, 209113113: 209113113
29 IDH2 NM_001289910.1(IDH2): c.359G> A (p.Arg120Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913503 GRCh37 Chromosome 15, 90631838: 90631838
30 IDH2 NM_002168.3(IDH2): c.419G> T (p.Arg140Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913502 GRCh37 Chromosome 15, 90631934: 90631934
31 IDH2 NM_002168.3(IDH2): c.418C> T (p.Arg140Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267606870 GRCh37 Chromosome 15, 90631935: 90631935
32 U2AF1 NM_001025203.1(U2AF1): c.470A> C (p.Gln157Pro) single nucleotide variant Likely pathogenic rs371246226 GRCh37 Chromosome 21, 44514777: 44514777
33 U2AF1 NM_006758.2(U2AF1): c.101C> T (p.Ser34Phe) single nucleotide variant Likely pathogenic rs371769427 GRCh37 Chromosome 21, 44524456: 44524456
34 U2AF1 NM_001025203.1(U2AF1): c.101C> A (p.Ser34Tyr) single nucleotide variant Likely pathogenic rs371769427 GRCh37 Chromosome 21, 44524456: 44524456
35 SF3B2 NM_006842.2(SF3B2): c.2099A> G (p.Glu700Gly) single nucleotide variant Likely pathogenic rs1057519960 GRCh37 Chromosome 11, 65830884: 65830884
36 TP53 NM_000546.5(TP53): c.742C> G (p.Arg248Gly) single nucleotide variant Likely pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539

Copy number variations for Myelodysplastic Syndrome from CNVD:

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

Expression for Myelodysplastic Syndrome

Search GEO for disease gene expression data for Myelodysplastic Syndrome.

Pathways for Myelodysplastic Syndrome

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
Show member pathways
12.12 FLT3 HRAS NRAS PTPN11
2
Show member pathways
12.12 HRAS IRF1 NRAS PTPN11
3
Show member pathways
11.44 HRAS NRAS PTPN11 RUNX1
4
Show member pathways
11.35 FLT3 HRAS NRAS
5 11.29 ETV6 FLT3 MLF1 RUNX1 WT1
6 11.14 FLT3 HRAS NRAS
7 10.44 HRAS NRAS

GO Terms for Myelodysplastic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.7 ASXL1 GATA2 IRF1 NPM1 NUP98 PRDM16
2 nucleus GO:0005634 9.53 ASXL1 ETV6 FLT3 GATA2 HRAS IRF1

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

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.7 ETV6 GATA2 IRF1 NPM1 NUP98 RUNX1
2 epidermal growth factor receptor signaling pathway GO:0007173 9.5 HRAS NRAS PTPN11
3 hematopoietic stem cell proliferation GO:0071425 9.37 ETV6 RUNX1
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.32 ASXL1 ETV6 GATA2 HRAS IRF1 NPM1
5 myeloid progenitor cell differentiation GO:0002318 9.26 FLT3 MLF1
6 hemopoiesis GO:0030097 9.26 ASXL1 FLT3 GATA2 RUNX1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 ASXL1 ETV6 FLT3 GATA2 HRAS IRF1
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.46 ETV6 GATA2 IRF1 WT1
3 DNA binding GO:0003677 9.32 ASXL1 ETV6 GATA2 IRF1 MLF1 PRDM16
4 C2H2 zinc finger domain binding GO:0070742 9.26 GATA2 WT1

Sources for Myelodysplastic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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