MCID: RFR010
MIFTS: 44

Refractory Anemia

Categories: Blood diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Refractory Anemia

MalaCards integrated aliases for Refractory Anemia:

Name: Refractory Anemia 59
Refractory Anemia, Without Ringed Sideroblasts, Without Excess Blasts 73
Refractory Anemias 73
Anemia Refractory 55

Characteristics:

Orphanet epidemiological data:

59
refractory anemia
Age of onset: Adult;

Classifications:



External Ids:

Orphanet 59 ORPHA98826
UMLS via Orphanet 74 C0002893
MESH via Orphanet 45 D000753
ICD10 via Orphanet 34 D46.7

Summaries for Refractory Anemia

MalaCards based summary : Refractory Anemia, also known as refractory anemia, without ringed sideroblasts, without excess blasts, is related to myelodysplastic syndrome and leukemia. An important gene associated with Refractory Anemia is TET2 (Tet Methylcytosine Dioxygenase 2), and among its related pathways/superpathways are Pathways in cancer and NF-kappaB Signaling. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are cellular and hematopoietic system

Related Diseases for Refractory Anemia

Diseases related to Refractory Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 myelodysplastic syndrome 31.3 ASXL1 EPO IL3 JAK2 MPL RUNX1
2 leukemia 30.5 JAK2 MPL RUNX1
3 chromosome 5q deletion syndrome 30.1 EPO TET2
4 thrombocytosis 29.9 EPO IL3 JAK2 MPL TET2
5 myeloid leukemia 29.8 IL3 JAK2 RUNX1 TET2
6 chronic myelomonocytic leukemia 29.8 ASXL1 JAK2 RUNX1 TET2
7 acute leukemia 29.6 IL3 JAK2 RUNX1
8 aplastic anemia 29.6 ASXL1 EPO IL3 MPL TET2
9 anemia, sideroblastic, 1 29.5 ALAS2 TET2
10 deficiency anemia 29.4 ALAS2 EPO IL3
11 myeloproliferative neoplasm 29.4 JAK2 MPL TET2
12 splenomegaly 29.3 EPO JAK2 MPL
13 leukemia, acute myeloid 29.3 ASXL1 IL3 JAK2 MPL RUNX1 TET2
14 megakaryocytic leukemia 29.3 IL3 JAK2 RUNX1
15 pancytopenia 29.1 EPO IL3 MPL
16 diamond-blackfan anemia 29.0 EPO IL3 MPL
17 essential thrombocythemia 28.8 ASXL1 EPO IL3 JAK2 MPL TET2
18 myelofibrosis 28.7 ASXL1 EPO IL3 JAK2 MPL TET2
19 polycythemia 28.7 EPO IL3 JAK2 MPL TET2
20 polycythemia vera 28.7 EPO IL3 JAK2 MPL TET2
21 leukemia, chronic myeloid 28.5 EPO IL3 JAK2 MPL RUNX1
22 refractory anemia with excess blasts in transformation 12.3
23 refractory anemia with excess blasts type 2 12.3
24 refractory anemia with excess blasts type 1 12.2
25 myelodysplastic syndrome with excess blasts 12.0
26 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 11.7
27 acquired idiopathic sideroblastic anemia 11.5
28 aregenerative anemia 11.5
29 anemia, sideroblastic, 2, pyridoxine-refractory 11.2
30 anemia, sideroblastic, 3, pyridoxine-refractory 11.2
31 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
32 sm-ahnmd 10.1 ASXL1 TET2
33 subacute myeloid leukemia 10.1 JAK2 TET2
34 pyridoxine-responsive sideroblastic anemia 10.1 ALAS2 TET2
35 folic acid deficiency anemia 10.1 EPO TET2
36 acquired polycythemia 10.1 EPO JAK2
37 pdgfrb-associated chronic eosinophilic leukemia 10.1
38 lymphocytic leukemia 10.0
39 myelodysplastic myeloproliferative cancer 10.0 ASXL1 JAK2 TET2
40 chronic leukemia 10.0 ASXL1 JAK2 TET2
41 thrombocytopenia-absent radius syndrome 10.0 JAK2 MPL
42 systemic mastocytosis 10.0 ASXL1 JAK2 TET2
43 atransferrinemia 10.0 ALAS2 TET2
44 core binding factor acute myeloid leukemia 10.0 JAK2 RUNX1
45 blood coagulation disease 10.0 JAK2 MPL
46 hemosiderosis 9.9
47 microcytic anemia 9.9 ALAS2 EPO
48 atypical chronic myeloid leukemia 9.9 ASXL1 JAK2 RUNX1
49 juvenile myelomonocytic leukemia 9.9 JAK2 RUNX1 TET2
50 anemia of prematurity 9.9 EPO IL3

Graphical network of the top 20 diseases related to Refractory Anemia:



Diseases related to Refractory Anemia

Symptoms & Phenotypes for Refractory Anemia

MGI Mouse Phenotypes related to Refractory Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.88 ASXL1 EPO JAK2 MPL RUNX1 TET2
2 hematopoietic system MP:0005397 9.87 ALAS2 ASXL1 EPO JAK2 MPL RUNX1
3 embryo MP:0005380 9.77 ALAS2 EPO JAK2 MPL RUNX1
4 immune system MP:0005387 9.73 ASXL1 EPO JAK2 MPL RUNX1 TET2
5 liver/biliary system MP:0005370 9.55 ASXL1 EPO JAK2 RUNX1 TET2
6 mortality/aging MP:0010768 9.5 ALAS2 ASXL1 EPO JAK2 MPL RUNX1
7 neoplasm MP:0002006 8.92 ASXL1 JAK2 RUNX1 TET2

Drugs & Therapeutics for Refractory Anemia

Search Clinical Trials , NIH Clinical Center for Refractory Anemia

Genetic Tests for Refractory Anemia

Anatomical Context for Refractory Anemia

MalaCards organs/tissues related to Refractory Anemia:

41
Bone, Bone Marrow, Myeloid, Liver, Ovary, Monocytes, B Cells

Publications for Refractory Anemia

Articles related to Refractory Anemia:

(show top 50) (show all 436)
# Title Authors Year
1
Five-day regimen of azacitidine for lower-risk myelodysplastic syndromes (refractory anemia or refractory anemia with ringed sideroblasts): A prospective single-arm phase 2 trial. ( 30007103 )
2018
2
Refractory anemia with ring sideroblasts and thrombocytosis. ( 28401094 )
2017
3
[Clinical Efficacy of Low-dose Decitabine Combined with CAG Regimen in Patients with Myelodysplastic Syndrome-refractory Anemia with Excess Blasts(MDS-RAEB)]. ( 29070129 )
2017
4
Severe atypical herpes zoster as an initial symptom of fatal myelodysplastic syndrome with refractory anemia and blast excess (RAEB II). ( 28652792 )
2017
5
Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management. ( 28188970 )
2017
6
Modest improvement in survival of patients with refractory anemia with excess blasts in the hypomethylating agents era in the United States. ( 27558206 )
2016
7
Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing. ( 26874914 )
2016
8
Vascular events and risk factors for thrombosis in refractory anemia with ring sideroblasts and thrombocytosis. ( 27479179 )
2016
9
Management of differentiation syndrome in an elderly patient with acute promyelocytic leukemia who subsequently developed refractory anemia with ring sideroblasts. ( 27073113 )
2016
10
Treatment of Refractory Anemia with Ring Sideroblasts Associated with Marked Thrombocytosis with Lenalidomide in a Patient Testing Negative for 5q Deletion and JAK2 V617F and MPL W515K/L Mutations. ( 27994837 )
2016
11
Survey of experts on therapeutic policies and proposals for the optimal timing for allogeneic peripheral blood stem cell transplantation in transfusion-dependent patients with myelodysplastic syndrome-refractory anemia. ( 27104191 )
2016
12
Good riddance to the term "refractory anemia" in myelodysplastic syndromes. ( 27776290 )
2016
13
Azacitidine versus decitabine in patients with refractory anemia with excess blast-Results of multicenter study. ( 27107658 )
2016
14
Low Dose Cytosine Arabinoside and Azacitidine Combination in Elderly Patients with Acute Myeloid Leukemia and Refractory Anemia with Excess Blasts (MDS-RAEB2). ( 26855506 )
2016
15
Imetelstat therapy in refractory anemia with ring sideroblasts with or without thrombocytosis. ( 26967822 )
2016
16
Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS). ( 27771989 )
2016
17
Refractory anemia in human immunodeficiency virus: Expect the unexpected. ( 28217621 )
2016
18
"Irony" of managing refractory anemia with transfusional support in hemophagocytic lymphohistiocytosis. ( 27102761 )
2016
19
Molecular and phenotypic heterogeneity of refractory anemia with ring sideroblasts associated with marked thrombocytosis. ( 25926061 )
2016
20
Erythroblast morphology in refractory anemia with ring sideroblasts and thrombocytosis. ( 27301073 )
2016
21
Acquired elliptocytosis in the setting of a refractory anemia with excess blasts and del(20q). ( 28092889 )
2016
22
Abnormalities in the T Cell Receptor VI' Repertoire and Foxp3 Expression in Refractory Anemia with Ringed Sideroblasts. ( 26154600 )
2015
23
Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts. ( 25955609 )
2015
24
Myeloid Sarcoma of the Bladder in the Setting of Refractory Anemia with Excess Blasts-2 (RAEB-2). ( 26665895 )
2015
25
Refractory anemia in systemic sclerosis: myelodisplastic syndrome. ( 27708945 )
2015
26
Isolated trisomy 13 in refractory anemia with excess blasts: report of two cases and a brief literature review of this possible association. ( 26133721 )
2015
27
A Case of Refractory Anemia with Excess Blast-2 with Sole Trisomy 13. ( 26299091 )
2015
28
Regaining the response to erythropoietin following azacitidine in chronic myelomonocytic leukemia previously evolved from refractory anemia. ( 26457287 )
2015
29
Metastatic Choriocarcinoma of the Small Intestine Presenting as Refractory Anemia and Melena. ( 26157939 )
2015
30
An MPL W515L mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis: A case report. ( 25621045 )
2015
31
Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations. ( 25527566 )
2015
32
Dramatic improvement of refractory anemia caused by mechanical hemolysis in a patient with hypertrophic obstructive cardiomyopathy using dual-chamber pacing. ( 26336568 )
2015
33
Decitabine versus best supportive care in older patients with refractory anemia with excess blasts in transformation (RAEBt) - results of a subgroup analysis of the randomized phase III study 06011 of the EORTC Leukemia Cooperative Group and German MDS Study Group (GMDSSG). ( 26400023 )
2015
34
Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T). ( 25899435 )
2015
35
Severe Refractory Anemia in Primary Intestinal Lymphangiectasia. A Case Report. ( 26405709 )
2015
36
Deferasirox in a refractory anemia after other treatment options: case report and literature review. ( 26185629 )
2015
37
Effects of 5-azacytidine on natural killer cell activating receptor expression in patients with refractory anemia with excess of blasts. ( 25709892 )
2015
38
Effectiveness of lenalidomide in a patient with refractory anemia with ring sideroblasts and thrombocytosis with JAK2 (V617F) mutation. ( 25963624 )
2015
39
Biosimilar epoetin α is as effective as originator epoetin-α plus liposomal iron (Sideral®), vitamin B12 and folates in patients with refractory anemia: A retrospective real-life approach. ( 26171179 )
2015
40
A yet unreported der(11)t(6;11)(p21;q21) included in a complex karyotype of a refractory anemia with ring sideroblasts and poor prognosis. ( 24439112 )
2014
41
Refractory anemia with ring sideroblasts associated with thrombocytosis (RARS-T). ( 24575445 )
2014
42
Proteome changes in the plasma of myelodysplastic syndrome patients with refractory anemia with excess blasts subtype 2. ( 24958999 )
2014
43
CALR mutations are infrequent in WHO-defined refractory anemia with ring sideroblasts. ( 24476767 )
2014
44
Histopathological evaluation of the bone marrow in refractory anemia with ring sideroblasts and thrombocytosis associated to the JAK2-V617F mutation. ( 24624040 )
2014
45
Response to lenalidomide of a patient with t(2;3)(p23;q29) and JAK2 non-mutated refractory anemia with ring sideroblasts and thrombocytosis. ( 23252419 )
2013
46
A case of refractory anemia with ring sideroblasts and associated thrombocytosis. ( 23844433 )
2013
47
Refractory anemia with ring sideroblasts. ( 24507814 )
2013
48
Durable second complete remissions with oral melphalan in hypocellular Acute Myeloid Leukemia and Refractory Anemia with Excess Blast with normal karyotype relapsing after intensive chemotherapy. ( 24371768 )
2013
49
The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts. ( 23070040 )
2013
50
Evolution of chronic myelomonocytic leukemia from refractory anemia: the unusual course of a myelodysplastic syndrome. ( 23826588 )
2013

Variations for Refractory Anemia

Expression for Refractory Anemia

Search GEO for disease gene expression data for Refractory Anemia.

Pathways for Refractory Anemia

GO Terms for Refractory Anemia

Biological processes related to Refractory Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.54 ASXL1 JAK2 TET2
2 cytokine-mediated signaling pathway GO:0019221 9.5 IL3 JAK2 MPL
3 hemopoiesis GO:0030097 9.4 ASXL1 RUNX1
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.33 EPO IL3 JAK2
5 regulation of cytokine-mediated signaling pathway GO:0001959 9.26 IL3 RUNX1
6 hemoglobin biosynthetic process GO:0042541 8.96 ALAS2 EPO
7 erythrocyte differentiation GO:0030218 8.8 ALAS2 EPO JAK2

Sources for Refractory Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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