MCID: RFR010
MIFTS: 50

Refractory Anemia malady

Blood, Cancer categories

Summaries for Refractory Anemia

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33MalaCards
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MalaCards: Refractory Anemia, also known as refractory anemia, without ringed sideroblasts, without excess blasts, is related to acute leukemia and thrombocytosis. An important gene associated with Refractory Anemia is TET2 (tet methylcytosine dioxygenase 2), and among its related pathways are Hematopoietic cell lineage and Heme Biosynthesis. The compounds mps-l and antithymoglobulin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lymph node and spinal cord, and related mouse phenotypes are embryogenesis and integument.

Aliases & Classifications for Refractory Anemia

Sources:
49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
refractory anemia:
Age of onset: Adulthood


Aliases & Descriptions:

refractory anemia 49
refractory anemia, without ringed sideroblasts, without excess blasts 61


External Ids:

MESH via Orphanet36 D000753
ICD10 via Orphanet26 D46.7
SNOMED-CT via Orphanet58 109996008, 128845005
UMLS via Orphanet62 C0002893

Related Diseases for Refractory Anemia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1acute leukemia31.1RUNX1, RUNX1T1, CSF3, JAK2, MPL, CDKN2B
2thrombocytosis30.9CSF3, JAK2, MPL, EPO, TET2
3myelodysplastic syndromes30.8JAK2, CSF3, RUNX1, PIGA, MPL, EPO
4aplastic anemia30.8ALAS2, ABCB7, PIGA
5hemochromatosis30.5HAMP, UROD, FXN
6chronic myelomonocytic leukemia30.5RUNX1, CSF3, JAK2, MPL
7deficiency anemia30.3ALAS2, ABCB7, EPO, MPL, PIGA, JAK2
8porphyria cutanea tarda30.1UROD, FECH
9hemosiderosis30.1EPO
10hemoglobinuria29.9PIGA
11iron deficiency anemia29.9EPO, FECH
12pancytopenia29.9CSF3, MPL, EPO
13acute promyelocytic leukemia29.9RUNX1, RUNX1T1, CSF3
14splenomegaly29.9CSF3, JAK2, MPL, EPO
15polycythemia vera29.9JAK2, MPL, EPO, TET2
16acute lymphocytic leukemia29.9RUNX1, CSF3, JAK2, MPL, CDKN2B
17arthritis29.9TNF, OSM
18acute myeloid leukemia10.5
19n syndrome10.4
20refractory anemia with excess blasts in transformation10.3
21acute t cell leukemia10.3
22t-cell leukemia10.3
23sideroblastic anemia acquired10.3
24acquired idiopathic sideroblastic anemia10.3
25refractory anemia with excess blasts10.3
26refractory anemia with excess blasts-210.3
27refractory anemia with excess blasts-110.3
28pyridoxine-refractory autosomal recessive sideroblastic anemia10.2
29systemic lupus erythematosus10.2
30siderosis10.2
31thymoma10.2
32essential thrombocythemia10.2
33adult syndrome10.1
34vasculitis10.1
35char syndrome10.1
36german syndrome10.1
37myelodysplastic syndrome, somatic10.1
38multiple myeloma10.0CSF3
39myocardial infarction10.0ABCB7
40tuberculosis10.0TNF
41ulcerative colitis10.0TNF
42systemic mastocytosis10.0TET2
43portal vein thrombosis10.0ABCB7
44peritonitis10.0TNF
45majeed syndrome10.0FXN
46juvenile myelomonocytic leukemia10.0RUNX1
47hypertriglyceridemia10.0ABCB7
48acute myocardial infarction10.0ABCB7
49ischemia10.0JAK2
50hepatoblastoma10.0MPL

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



Diseases related to refractory anemia

Clinical Features for Refractory Anemia

Drugs & Therapeutics for Refractory Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Refractory Anemia

Drug clinical trials:

Search ClinicalTrials for Refractory Anemia

Search NIH Clinical Center for Refractory Anemia

Search CenterWatch for Refractory Anemia

Genetic Tests for Refractory Anemia

Anatomical Context for Refractory Anemia

Sources:
33MalaCards
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MalaCards organs/tissues related to Refractory Anemia:

33
Bone marrow, Lymph node, Spinal cord, Heart, Small intestine, Kidney, Liver, Lung, Breast, Skin, Ovary, Myeloid, Monocytes, T cells, B lymphoblasts, B cells

Animal Models for Refractory Anemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Refractory Anemia

Sources:
51PubMed
See all sources

Articles related to Refractory Anemia:

(show top 50)    (show all 486)
idTitleAuthorsYear
1
Evolution of chronic myelomonocytic leukemia from refractory anemia: the unusual course of a myelodysplastic syndrome. (23826588)
2013
2
The impact of eltrombopag administration on the clinical course of severe refractory fatal acquired aplastic anemia. (24385816)
2013
3
Efficacy and safety of mesenchymal stromal cell treatment from related donors for patients with refractory aplastic anemia. (23731760)
2013
4
Eltrombopag restores tri-lineage hematopoiesis in refractory severe aplastic anemia which can be sustained on discontinuation of drug. (24345753)
2013
5
Successful treatment with rituximab of an infant with refractory autoimmune hemolytic anemia. (23702915)
2013
6
Correlation between dysplastic lineage and type of cytopenia in myelodysplastic syndromes patients with refractory anemia according to the FAB classification. (23897263)
2013
7
A promising new treatment for refractory aplastic anemia. (22762322)
2012
8
Plasma protein alterations in the refractory anemia with excess blasts subtype 1 subgroup of myelodysplastic syndrome. (22568928)
2012
9
Alternative donor HSCT in refractory acquired aplastic anemia: the time has come. (22646164)
2012
10
Refractory hemolytic anemia due to severe swirling flow pattern in chronic mitral regurgitation after myxoma surgery. (22877901)
2012
11
Refractory pancytopenia and megaloblastic anemia due to falciparum malaria. (20889623)
2011
12
Sustained trilineage hematopoietic recovery in a patient with refractory anemia, del(13)(q12q22), and paroxysmal nocturnal hemoglobinuria-type cells treated with immunosuppressive therapy. (21641038)
2011
13
Pregnancy in a woman with polycystic ovary syndrome and myelodysplastic syndrome (in the form of refractory anemia) treated with allogeneic hemopoietic stem-cell transplantation (alloHSCT). (20074022)
2010
14
Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. (20194893)
2010
15
The role of intracellular signal pathway of mTOR/S6 in CD3+ T lymphocytes of refractory/relapsed aplastic anemia patients]. (19954658)
2009
16
Etanercept as a salvage treatment for refractory aplastic anemia. (19061218)
2009
17
Pure red cell aplasia associated with hemolytic anemia refractory to standard measures and resolved by rituximab in an elderly patient. (18807120)
2008
18
Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts and thrombocytosis. (17713548)
2008
19
Activity of rituximab monotherapy in refractory splenic marginal zone lymphoma complicated with autoimmune hemolytic anemia. (16796783)
2006
20
Alemtuzumab induced complete remission of autoimmune hemolytic anemia refractory to corticosteroids, splenectomy and rituximab. (16709521)
2006
21
The presence of clonal cell subpopulations in peripheral blood and bone marrow of patients with refractory cytopenia with multilineage dysplasia but not in patients with refractory anemia may reflect a multistep pathogenesis of myelodysplasia. (15725470)
2005
22
Coexistence of primary refractory anemia with ringed sideroblasts and T cell-lymphoblastic non-Hodgkin lymphoma. (15034241)
2004
23
Classification of refractory anemia. (14654087)
2004
24
p53 protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemia. (11900571)
2002
25
Granulocyte colony-stimulating factor inhibits Fas-triggered apoptosis in bone marrow cells isolated from patients with refractory anemia with ringed sideroblasts. (11368434)
2001
26
Prevalence and survival of myelodysplastic syndrome of the refractory anemia type in hospitalized cognitively different geriatric patients. (11044787)
2000
27
Refractory anemia with ringed sideroblasts with a low IPSS score progressed rapidly with de novo appearance of multiple karyotypic abnormalities and into acute erythroleukemia (AML-M6A). (10867135)
2000
28
Clonality analysis of refractory anemia with ring sideroblasts: simultaneous study of clonality and cytochemistry of bone marrow progenitors. (10049048)
1999
29
New system for assessing the prognosis of refractory anemia patients. (10557045)
1999
30
Refractory anemia with excess of blasts: increased survival when treated with cyclophosphamide, methotrexate and 6-mercaptopurine. (10227453)
1999
31
Interleukin-3 therapy in patients with aplastic anemia refractory to prior therapies]. (8683863)
1996
32
Successful control of refractory and life-threatening autoimmune hemolytic anemia with intravenous immunoglobulins in a man with the primary antiphospholipid syndrome. (8959944)
1996
33
Refractory anemia with excess of blasts: a multivariate analysis of prognostic factors in 91 patients and a simplified scoring system for predicting survival. (7789469)
1995
34
Successful response to alpha-interferon 2b in a refractory IgM autoagglutinin-mediated hemolytic anemia. (8086510)
1994
35
Trilineage recovery by combination therapy with recombinant human granulocyte colony-stimulating factor and erythropoietin in patients with aplastic anemia and refractory anemia. (7533579)
1994
36
Cytogenic characterization of primary refractory anemia. (1288285)
1992
37
Myelodysplastic syndromes (refractory anemia). A perspective of the biologic, clinical, and therapeutic issues. (1578959)
1992
38
A case of refractory anemia with excess of blasts evolving to acute myelomonocytic leukemia studied with monoclonal antibodies. (3121469)
1987
39
Refractory anemia. (3551437)
1986
40
Small-dose cytosine arabinoside in the treatment of elderly patients with acute leukemia and refractory anemia with excess of blast. (3617109)
1986
41
Deficiency of a major myeloid antigen in neutrophils of patients with refractory anemia and excess myeloblasts. (3999799)
1985
42
Cytogenetic study of 88 cases of refractory anemia. (6825068)
1983
43
Specificity of the 5q-chromosome in a distinct type of refractory anemia. (994197)
1976
44
Serum lactic dehydrogenase activity in refractory anemia. (4974497)
1968
45
Refractory anemia. (6083225)
1967
46
HEMOSIDEROSIS VERSUS HEMOCHROMATOSIS: REFRACTORY ANEMIA, HEPATIC DYSFUNCTION, DIABETES AND INCREASED TISSUE IRON DEPOSITS. (14266833)
1965
47
Refractory anemias with siderosis. (14014308)
1963
48
The treatment of refractory anemia or bone marrow failure. (13475437)
1957
49
"Refractory anemia" after arsphenamine diglucoside (stabilarsan). (14839252)
1951
50
Refractory megaloblastic anemia. (15434958)
1950

Genetic Variations for Refractory Anemia

Expression for genes affiliated with Refractory Anemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Refractory Anemia

Search GEO for disease gene expression data for Refractory Anemia.

Pathways for genes affiliated with Refractory Anemia

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 4Cell Signaling Technology, 12EMD Millipore, 52QIAGEN
See all sources

Compounds for genes affiliated with Refractory Anemia

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Refractory Anemia according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1mps-l4510.6CSF3, EPO
2antithymoglobulin4510.6CSF3, EPO
3metenolone acetate4510.6CSF3, EPO
4carboxymethylcellulose4510.6CSF3, EPO
5hydroxymethylbilane45 2411.6FECH, UROD
6lenalidomide45 1111.6EPO, TNF, CSF3
7anagrelide45 1111.6JAK2, MPL, EPO
8pegfilgrastim45 1111.6EPO, CSF3
9st 6384510.6TNF, CSF3
10pp 1004510.5JAK2, EPO
11formyl-coa45 2411.5ALAS2, UROD, FECH
12haem4510.5ALAS2, UROD, FECH
13gm-csf45 2911.5EPO, TNF, CSF3
14vitamin b64510.5FECH, EPO, ALAS2
15il 114510.5EPO, OSM, CSF3
165-aminolevulinic acid45 2411.5ALAS2, UROD, FECH
17uroporphyrinogen-iii4510.5FECH, UROD
18filgrastim45 1111.5EPO, OSM, CSF3
19iron dextran45 1111.5UROD, EPO
20protoporphyrinogen4510.5FECH, UROD
21deferoxamine45 1111.5FECH, EPO, FXN
22methylcellulose4510.5EPO, PIGA, CSF3
23interferon gamma4510.4TNF, JAK2
24iron-sulfur4510.4FECH, ABCB7, FXN, ALAS2
25pixy3214510.4CSF3, EPO
26imatinib45 50 1112.4EPO, JAK2, CSF3, RUNX1
27melphalan45 1111.4EPO, TNF, CSF3
28pyrrole4510.4FECH, UROD
29butyrate4510.4RUNX1, TNF, JAK2, EPO, ALAS2
30methotrexate45 50 1112.3CSF3, TNF, CDKN2B, EPO
31dmso4510.3RUNX1, FECH, CSF3, UROD
32endotoxin4510.3CSF3, TNF, OSM, JAK2
33heme29 11 2412.3FECH, UROD, ABCB7, FXN, ALAS2
34gp 1304510.2CSF3, OSM, JAK2, MPL, EPO
35vesnarinone4510.2CSF3, TNF
36protoporphyrin ix45 11 2412.2ALAS2, FECH, UROD, EPO, ABCB7, FXN
37vitamin-e4510.2FXN, ABCB7, JAK2
38thymidine45 2411.1CSF3, TNF, OSM, JAK2, EPO
39oxygen45 2411.1TNF, HAMP, UROD, JAK2, EPO, FXN
40azathioprine45 50 2 1113.1EPO, CDKN2B, OSM
41serine4510.1RUNX1T1, TNF, OSM, JAK2, MPL, CDKN2B
42zinc45 2411.1RUNX1, RUNX1T1, FECH, MPL, ABCB7, FXN
43threonine4510.0RUNX1, RUNX1T1, OSM, JAK2, MPL, CDKN2B
44vegf4510.0RUNX1, CSF3, TNF, OSM, JAK2, MPL
45iron45 2411.0FECH, HAMP, UROD, MPL, EPO, ABCB7
46alanine459.9FECH, OSM, JAK2, MPL, ABCB7, ALAS2
47retinoic acid45 2410.9RUNX1, CSF3, TNF, OSM, JAK2, MN1
48ethanol45 50 11 2412.9ABCB7, JAK2, UROD, HAMP
49hydroxyurea45 50 1111.8CSF3, JAK2, EPO
50cysteine459.8FECH, UROD, OSM, JAK2, MPL, FXN

GO Terms for genes affiliated with Refractory Anemia

Sources:
16Gene Ontology
See all sources

Biological processes related to Refractory Anemia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:04254110.5ALAS2, EPO
2tyrosine phosphorylation of Stat5 proteinGO:04250610.4JAK2, OSM
3tyrosine phosphorylation of Stat1 proteinGO:04250810.4JAK2, OSM
4tyrosine phosphorylation of Stat3 proteinGO:04250310.4JAK2, OSM
5porphyrin-containing compound metabolic processGO:00677810.4FECH, UROD, ALAS2
6erythrocyte differentiationGO:03021810.3FECH, JAK2, ALAS2
7cellular iron ion homeostasisGO:00687910.3HAMP, ABCB7, FXN, ALAS2
8heme biosynthetic processGO:00678310.3ALAS2, FXN, UROD, FECH
9positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.3EPO, JAK2
10protoporphyrinogen IX biosynthetic processGO:00678210.3UROD, ALAS2
11positive regulation of peptidyl-serine phosphorylationGO:03313810.2CSF3, TNF, OSM
12response to salt stressGO:00965110.2EPO, TNF
13positive regulation of peptidyl-tyrosine phosphorylationGO:05073110.1JAK2, OSM, CSF3
14behavioral response to painGO:0482669.9OSM, RUNX1
15positive regulation of cell proliferationGO:0082849.9CSF3, OSM, JAK2, EPO, FXN
16positive regulation of transcription from RNA polymerase II promoterGO:0459449.9RUNX1, PUS1, CSF3, TNF, OSM, CDKN2B

Molecular functions related to Refractory Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ferrous iron bindingGO:00819810.2FXN, FECH

Products for genes affiliated with Refractory Anemia

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  • Proteins
  • Lysates
  • Antibodies

Sources for Refractory Anemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet