MCID: RFR009
MIFTS: 32

Refractory Cytopenia with Multilineage Dysplasia

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Refractory Cytopenia with Multilineage Dysplasia

MalaCards integrated aliases for Refractory Cytopenia with Multilineage Dysplasia:

Name: Refractory Cytopenia with Multilineage Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59

Classifications:



External Ids:

ICD10 via Orphanet 34 D46.7
UMLS via Orphanet 73 C0796466
Orphanet 59 ORPHA86836

Summaries for Refractory Cytopenia with Multilineage Dysplasia

MalaCards based summary : Refractory Cytopenia with Multilineage Dysplasia is related to refractory anemia and myelodysplastic syndrome. An important gene associated with Refractory Cytopenia with Multilineage Dysplasia is ASXL1 (ASXL Transcriptional Regulator 1), and among its related pathways/superpathways is HIF-1-alpha transcription factor network. The drugs Decitabine and Idarubicin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are HIV Rev nuclear localization and hematopoietic system

Related Diseases for Refractory Cytopenia with Multilineage Dysplasia

Graphical network of the top 20 diseases related to Refractory Cytopenia with Multilineage Dysplasia:



Diseases related to Refractory Cytopenia with Multilineage Dysplasia

Symptoms & Phenotypes for Refractory Cytopenia with Multilineage Dysplasia

GenomeRNAi Phenotypes related to Refractory Cytopenia with Multilineage Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 HIV Rev nuclear localization GR00247-A-3 8.62 SF3B1 U2AF1

MGI Mouse Phenotypes related to Refractory Cytopenia with Multilineage Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 ASXL1 ENG GATA2 IDS PRDX2 SF3B1
2 homeostasis/metabolism MP:0005376 9.5 ASXL1 ENG GATA2 IDS PRDX2 SETBP1
3 mortality/aging MP:0010768 9.17 ASXL1 ENG GATA2 IDS SETBP1 SF3B1

Drugs & Therapeutics for Refractory Cytopenia with Multilineage Dysplasia

Drugs for Refractory Cytopenia with Multilineage Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 102)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Decitabine Approved, Investigational Phase 3 2353-33-5 451668
2
Idarubicin Approved Phase 3 58957-92-9 42890
3
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
4
Etanercept Approved, Investigational Phase 2 185243-69-0
5
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
6
Bexarotene Approved, Investigational Phase 2 153559-49-0 82146
7
Amifostine Approved, Investigational Phase 2 20537-88-6 2141
8
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
9
Etoposide Approved Phase 2 33419-42-0 36462
10
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
11
Melphalan Approved Phase 2 148-82-3 460612 4053
12
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616 46835353
13
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
14
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
15
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
16
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
17
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
18
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
19
Busulfan Approved, Investigational Phase 2 55-98-1 2478
20
Arsenic trioxide Approved, Investigational Phase 2 1327-53-3 518740
21
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
22
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
23
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
24
leucovorin Approved Phase 2 58-05-9 143 6006
25
Darbepoetin alfa Approved, Investigational Phase 2 11096-26-7, 209810-58-2
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
28
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
29
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
30
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
31
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
32
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
33
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
34
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
35
Vatalanib Investigational Phase 2 212141-54-3 151194
36
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
37 Lintuzumab Investigational Phase 2 166089-32-3
38 Vaccines Phase 2
39 Adjuvants, Immunologic Phase 2
40 Freund's Adjuvant Phase 2
41 Protein Kinase Inhibitors Phase 2
42 topoisomerase I inhibitors Phase 2
43 Topoisomerase Inhibitors Phase 2
44 Analgesics Phase 2
45 Analgesics, Non-Narcotic Phase 2
46 Anti-Inflammatory Agents, Non-Steroidal Phase 2
47 Radiation-Protective Agents Phase 2
48 Antineoplastic Agents, Phytogenic Phase 2
49 Etoposide phosphate Phase 2
50 Anti-Inflammatory Agents Phase 2

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Phase 2 Study of Proteinase 3 PR1 Peptide Mixed With Montanide ISA 51 VG Adjuvant and Administered With GM-CSF in Low Risk and Intermediate-1 MDS Unknown status NCT00513578 Phase 2
4 A Phase II Study of an Oral VEGF Receptor Tyrosine Kinase Inhibitor (PTK787/ZK222584) (IND #66370, NSC #719335) in Myelodysplastic Syndrome (MDS) Completed NCT00072475 Phase 2 vatalanib
5 A Randomized Phase II Trial of Oral Topotecan Given Twice a Day for 5 Days or Once a Day for 10 Days to Patients With Myelodysplastic Syndromes (MDS) Completed NCT00003675 Phase 2 topotecan hydrochloride
6 Therapy of Myelodysplastic Syndrome (MDS) With Antithymocyte Globulin (ATG) and TNFR:Fc Completed NCT00005853 Phase 2
7 Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) After T-Lymphocyte Depleted Allogeneic BMT for Myelodysplastic Syndromes Completed NCT00003961 Phase 2
8 HLA-HAPLOIDENTICAL FAMILIAL DONOR HEMATOPOIETIC CELL TRANSPLANTATION AFTER REDUCED INTENSITY CONDITIONING OF BUSULFAN, FLUDARABINE, AND ANTI-THYMOCYTE GLOBULIN FOR PATIENTS WITH BONE MARROW FAILURE SYNDROME - A PHASE 2 STUDY Completed NCT00731328 Phase 2
9 A Phase II Study of Bexarotene + Sargromastastin as Agents of Differentiation in MDS and AML Completed NCT00425477 Phase 2 bexarotene
10 A Phase II Study Of Amifostine In Children With Myelodysplastic Syndrome Completed NCT00098683 Phase 2 amifostine trihydrate
11 A Phase II Trial of IV Busulfan (Busulfex) and Melphalan as a Preparatory Regimen Prior to Allogeneic Bone Marrow Transplantation for the Treatment of Advanced and High Risk Hematologic Malignancies Completed NCT00014469 Phase 2 busulfan;melphalan;methotrexate;tacrolimus
12 Allogeneic Bone Marrow Transplantation Using Closely Matched Related and Unrelated Donors Completed NCT00005622 Phase 2 cyclophosphamide
13 Hematopoietic Stem Cell Transplantation Using Bone Marrow Or Peripheral Blood Stem Cells From Matched, Unrelated, Volunteer Donors Completed NCT00054327 Phase 2 busulfan;cyclophosphamide;cytarabine;Etoposide
14 Reduced Intensity Stem Cell Transplantation (RIST) for Patients With Hematological Malignancies Conditioned With Fludarabine and Busulfan Completed NCT00619645 Phase 2 busulfan;cyclosporine;fludarabine phosphate;mycophenolate mofetil
15 A Phase II Study of the Combination of Tacrolimus and Mycophenolate Mofetil for the Prevention of Acute Graft-Versus-Host Disease Completed NCT00096096 Phase 2 mycophenolate mofetil;tacrolimus
16 A Phase I/II Study of Sirolimus in Addition to Tacrolimus and Methotrexate for the Prevention of Acute-Graft-Versus-Host Disease in Patients Undergoing Hematopoietic Stem Cell Transplantation From Unrelated Donors Completed NCT00089037 Phase 1, Phase 2 methotrexate;sirolimus;tacrolimus
17 Allogeneic Bone Marrow Transplantation for Hematologic Malignancies: A Treatment Approach Based on Risk of Relapse and Toxicity Completed NCT00005797 Phase 2 busulfan;Cyclophosphamide;VP-16
18 Transplantation of Umbilical Cord Blood From Unrelated Donors in Patients With Hematological Diseases Using a Non-Myeloablative Preparative Regimen Completed NCT00365287 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;fludarabine phosphate;mycophenolate mofetil
19 Phase II Trial of Arsenic Trioxide and Dose-Escalated Cholecalciferol in Myelodysplastic Syndrome Terminated NCT00104806 Phase 2 arsenic trioxide
20 Phase II Study of 5-azacytidine and Lintuzumab in Myelodysplastic Syndromes (MDS) Terminated NCT00997243 Phase 2 5-azacytidine
21 Combination of Azacitadine and Hematopoietic Growth Factors for Myelodysplastic Syndrome Terminated NCT00398047 Phase 2 Azacitadine and Hematopoietic Growth Factors
22 Transplantation of Unrelated Donor Umbilical Cord Blood in Patients With Hematological Malignancies Using a Non-Myeloablative Preparative Regimen Terminated NCT00719849 Phase 2 cyclophosphamide;cyclosporine;fludarabine phosphate;mycophenolate mofetil
23 T-Cell Depletion for Graft-Versus-Host Disease (GVHD) Prevention in High Risk Matched and Mismatched Allogeneic Bone Marrow Transplantation Terminated NCT00005641 Phase 2 busulfan;cyclophosphamide;cyclosporine;leucovorin calcium;methotrexate;methylprednisolone
24 A Phase I Trial Of VNP40101M, A Novel Alkylating Agent, For Patients With Hematologic Malignancies Completed NCT00049686 Phase 1 laromustine
25 Nonmyeloablative Bone Marrow Transplants in Hematologic Malignancies: Dose Finding Study for Post-Transplant Immunosuppression Completed NCT00255710 Phase 1 cyclophosphamide;fludarabine phosphate;mycophenolate mofetil;tacrolimus
26 A Phase I Open-Label, Safety Study of Haploidentical Bone Marrow Transplantation (BMT) After Ex Vivo Treatment of Bone Marrow With Anti-B7.1 and Anti-B7.2 Antibodies Completed NCT00005988 Phase 1 cyclophosphamide;cyclosporine;leucovorin calcium;methotrexate;methylprednisolone
27 Phase I Study of 12-O-tetradecanoylphorbol-13-acetate (TPA) in Patients With Refractory Hematologic Malignancies/Bone Marrow Disorders Terminated NCT00004058 Phase 1 tetradecanoylphorbol acetate
28 Non-Myeloablative Chemotherapy Followed by Unrelated Allogeneic Stem Cell Transplantation in Patients With Advanced Hematologic Malignancies: A Pilot Study Withdrawn NCT00004114 Phase 1 cyclophosphamide;cytarabine;fludarabine phosphate
29 Serial Analysis of Chimerism in Patients With Refractory Cytopenia (RC) Transplanted With Reduced Intensity Conditioning (RIC) Unknown status NCT00898118
30 TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study Completed NCT00499070
31 A Cyclophosphamide/Fludarabine/Total Body Irradiation Preparative Regimen for Patients With Hematological Malignancy Receiving Unrelated Donor Umbilical Cord Blood Transplantation Completed NCT00290641 cyclophosphamide;cyclosporine;fludarabine phosphate;mycophenolate mofetil
32 K562/GM-CSF Vaccination in Patients With Myelodysplastic Syndrome Terminated NCT00361296 Early Phase 1

Search NIH Clinical Center for Refractory Cytopenia with Multilineage Dysplasia

Genetic Tests for Refractory Cytopenia with Multilineage Dysplasia

Anatomical Context for Refractory Cytopenia with Multilineage Dysplasia

MalaCards organs/tissues related to Refractory Cytopenia with Multilineage Dysplasia:

41
Bone, Bone Marrow, Myeloid, T Cells, Lung, Skin, B Cells

Publications for Refractory Cytopenia with Multilineage Dysplasia

Articles related to Refractory Cytopenia with Multilineage Dysplasia:

(show top 50) (show all 159)
# Title Authors PMID Year
1
Effect of Qinghuang Powder () Combined with Bupi Yishen Decoction () in Treating Patients with Refractory Cytopenia with Multilineage Dysplasia through Regulating DNA Methylation. 38
29500545 2019
2
Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes. 38
30287621 2019
3
Gender disparity in the survival of patients with primary myelodysplastic syndrome. 38
30854142 2019
4
Methylation level of Rap1GAP and the clinical significance in MDS. 38
30546468 2018
5
Increased cardiovascular comorbidities in patients with myelodysplastic syndromes and chronic myelomonocytic leukemia presenting with systemic inflammatory and autoimmune manifestations. 38
30502853 2018
6
Gastric carcinoma subsequent to myelodysplastic syndrome with t (1; 19) chromosome translocation: A rare case report and its potential mechanisms. 38
30045276 2018
7
[MonoMAC syndrome patient developing myelodysplastic syndrome following persistent EBV infection]. 38
29618691 2018
8
[Relationship between clinical features and somatic gene mutations in myelodysplastic syndrome]. 38
29415943 2018
9
DNA repair gene expressions are related to bone marrow cellularity in myelodysplastic syndrome. 38
28554891 2017
10
TP53 and IDH2 Somatic Mutations Are Associated With Inferior Overall Survival After Allogeneic Hematopoietic Cell Transplantation for Myelodysplastic Syndrome. 38
28687222 2017
11
Biologics in myelodysplastic syndrome-related systemic inflammatory and autoimmune diseases: French multicenter retrospective study of 29 patients. 38
28705782 2017
12
Coexistence of aberrant hematopoietic and stromal elements in myelodysplastic syndromes. 38
28822917 2017
13
Enhanced plasma protein carbonylation in patients with myelodysplastic syndromes. 38
28300669 2017
14
p53 protein expression in patients with myelodysplasia treated with allogeneic bone marrow transplantation. 38
28588781 2017
15
Hospital-Based Case-Control Study of MDS Subtypes and Benzene Exposure in Shanghai. 38
28146040 2017
16
Are myelodysplastic syndromes underdiagnosed in Poland? A report by the Polish Adult Leukaemia Group. 38
27699872 2017
17
Myelodysplastic Syndrome Developing Presacral Extramedullary Hematopoiesis with Atypical MRI Findings. 38
28502939 2017
18
Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts. 38
27391606 2016
19
Monitoring of the Clonal Fraction by Fluorescence In Situ Hybridization in Myelodysplastic Syndrome: Comparison With International Working Group Treatment Response Criteria. 38
27232348 2016
20
[Paroxysmal nocturnal hemoglobinuria and myelodysplastic syndrome: a case report]. 38
26744238 2016
21
Spectrum of the WHO Classification De Novo Myelodysplastic Syndrome: Experience from Southern Pakistan. 38
27039723 2016
22
[Establishment of Primary Adult MDS Nested Case-Control Study Cohort and Study of Risk Factors Associated with MDS Evolution to Leukemia]. 38
26708886 2015
23
Comparison of long-term outcomes between children with aplastic anemia and refractory cytopenia of childhood who received immunosuppressive therapy with antithymocyte globulin and cyclosporine. 38
26273061 2015
24
In patients with myelodysplastic syndromes with del(5q), factors other than age and sex contribute to the prognostic advantage, which diminishes over time. 38
25960152 2015
25
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. 38
25957392 2015
26
[Cold autoimmune hemolytic anemia complicated with relapsed myelodysplastic syndrome after allogeneic hematopoietic cell transplantation]. 38
25971272 2015
27
Tea consumption reduces the risk of de novo myelodysplastic syndromes. 38
25529769 2015
28
A nationwide non-interventional epidemiological data registry on myelodysplastic syndromes in Lebanon. 38
27069756 2015
29
Progressive transfusion and growth factor independence with adjuvant sertraline in low risk myelodysplastic syndrome treated with an erythropoiesis stimulating agent and granulocyte-colony stimulating factor. 38
25709889 2015
30
Peripheral blood mononuclear cell proteome changes in patients with myelodysplastic syndrome. 38
25969835 2015
31
Plasma Protein Biomarker Candidates for Myelodysplastic Syndrome Subgroups. 38
26448929 2015
32
[Treatment of myelodysplastic syndrome by hematopoietic stem cell transplantation combined with Chinese medical syndrome typing: a clinical study]. 38
25790675 2015
33
Successful use of rituximab in platelet transfusion refractoriness in a multi-transfused patient with myelodysplastic syndrome. 38
23634876 2015
34
Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing. 38
26637696 2015
35
Refractory thrombocytopenia and neutropenia: a diagnostic challenge. 38
25745545 2015
36
New insights on iron study in myelodysplasia. 38
25541657 2014
37
CXCL12+ stromal cells as bone marrow niche for CD34+ hematopoietic cells and their association with disease progression in myelodysplastic syndromes. 38
25199050 2014
38
Successful treatment of myelodysplastic syndrome and chronic hepatitis C using combined peginterferon-α-2b and ribavirin therapy. 38
24224981 2014
39
Peroxiredoxin 2 expression is increased in neutrophils of patients with refractory cytopenia with multilineage dysplasia. 38
24862795 2014
40
Genomic landscape of CD34+ hematopoietic cells in myelodysplastic syndrome and gene mutation profiles as prognostic markers. 38
24850867 2014
41
Treosulfan, fludarabine, and 2-Gy total body irradiation followed by allogeneic hematopoietic cell transplantation in patients with myelodysplastic syndrome and acute myeloid leukemia. 38
24440648 2014
42
Trends in incidence, initial treatment and survival of myelodysplastic syndromes: a population-based study of 5144 patients diagnosed in the Netherlands from 2001 to 2010. 38
24388662 2014
43
Refractory anemia with ring sideroblasts. 38
24507814 2013
44
Transfusion-dependent low-risk myelodysplastic patients receiving deferasirox: Long-term follow-up. 38
24260074 2013
45
Case report: A novel TET2 mutation in a patient with refractory cytopenia with multilineage dysplasia. 38
24301955 2013
46
[Relationship between polymorphisms of tumor necrosis factor alpha gene and primary myelodysplastic syndromes]. 38
24171962 2013
47
Membranous glomerulonephritis in a patient with myelodysplastic syndrome-refractory cytopenia with multilineage dysplasia. 38
26877929 2013
48
[Association between multiple myeloma and acute myeloid leukemia secondary to myelodysplastic syndrome]. 38
24113443 2013
49
[Clinical features of cytopenia with bone marrow hypoplasia in children: an analysis of 100 cases]. 38
23791060 2013
50
Increased plasma thrombopoietin levels in patients with myelodysplastic syndrome: a reliable marker for a benign subset of bone marrow failure. 38
23403320 2013

Variations for Refractory Cytopenia with Multilineage Dysplasia

Expression for Refractory Cytopenia with Multilineage Dysplasia

Search GEO for disease gene expression data for Refractory Cytopenia with Multilineage Dysplasia.

Pathways for Refractory Cytopenia with Multilineage Dysplasia

Pathways related to Refractory Cytopenia with Multilineage Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 GATA2 ENG

GO Terms for Refractory Cytopenia with Multilineage Dysplasia

Cellular components related to Refractory Cytopenia with Multilineage Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic step 2 spliceosome GO:0071013 8.62 U2AF1 SF3B1

Biological processes related to Refractory Cytopenia with Multilineage Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.56 TET2 GATA2 ENG ASXL1
2 hemopoiesis GO:0030097 9.16 GATA2 ASXL1
3 bone development GO:0060348 8.96 ENG ASXL1
4 negative regulation of fat cell differentiation GO:0045599 8.62 GATA2 ASXL1

Sources for Refractory Cytopenia with Multilineage Dysplasia

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