MCID: RFR010
MIFTS: 42

Refractory Anemia malady

Blood diseases, Cancer diseases, Rare diseases categories

Summaries for Refractory Anemia

About this section


MalaCards based summary: Refractory Anemia, also known as refractory anemia, without ringed sideroblasts, without excess blasts, is related to thrombocytosis and myelodysplastic syndrome. An important gene associated with Refractory Anemia is TET2 (tet methylcytosine dioxygenase 2), and among its related pathways are Lymphocyte Signaling and Endometrial cancer. The compounds vitamin b6 and lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related mouse phenotypes are tumorigenesis and normal.

Aliases & Classifications for Refractory Anemia

About this section
Sources:
47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Refractory Anemia, Aliases & Descriptions:

Name: Refractory Anemia 47
Refractory Anemia, Without Ringed Sideroblasts, Without Excess Blasts 60
 
Refractory Anemias 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
refractory anemia:
Age of onset: Adult


External Ids:

Orphanet47 98826
ICD10 via Orphanet26 D46.7
UMLS via Orphanet61 C0002893
MESH via Orphanet34 D000753

Related Diseases for Refractory Anemia

About this section

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytosis31.4TET2, EPO
2myelodysplastic syndrome31.1EPO, RUNX1
3aplastic anemia30.8ABCB7, ALAS2
4myelofibrosis30.5TET2, EPO
5acute leukemia30.5RUNX1T1, RUNX1, EPO
6sideroblastic anemia30.3ABCB7, ALAS2
7polycythemia vera30.3EPO, TET2
8leukemia30.3TET2, ALAS2, EPO, TNF, RUNX1, RUNX1T1
9monocytic leukemia30.0TNF, RUNX1
10deficiency anemia29.7ALAS2, ABCB7, EPO
11refractory anemia with excess blasts10.8
12refractory anemia with excess blasts in transformation10.6
13myeloid leukemia10.6
14chronic myelomonocytic leukemia10.4
15hemochromatosis10.3
16refractory anemia with excess blasts type 210.3
17refractory anemia with excess blasts type 110.3
18systemic lupus erythematosus10.2
19anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2
20siderosis10.2
21lupus erythematosus10.2
22lymphoblastic leukemia10.2
23mediastinitis10.2
24thymoma10.2
25essential thrombocythemia10.2
26liver disease10.2TNF
27microcytic anemia10.2ALAS2, EPO
28sickle cell disease10.1EPO, ALAS2
29porphyria cutanea tarda10.1
30chronic lymphocytic leukemia10.1
31hepatitis10.1
32hemosiderosis10.1
33porphyria10.1
34vasculitis10.1
35aregenerative anemia10.1
36bone marrow cancer10.1EPO, RUNX1
37leukemia, acute promyelocytic10.1RUNX1T1, RUNX1
38acute erythroid leukemia10.1EPO, ALAS2
39anemia, sideroblastic, x-linked10.0ALAS2, ABCB7
40pearson syndrome10.0ALAS2, ABCB7
41hematologic cancer10.0RUNX1, RUNX1T1
42gastrointestinal stromal tumor10.0
43breast cancer10.0
44hodgkin lymphoma10.0
45ghosal hematodiaphyseal syndrome10.0
46arthritis10.0
47crohn's disease10.0
48hemolytic anemia10.0
49neutropenia10.0
50paroxysmal nocturnal hemoglobinuria10.0

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



Diseases related to refractory anemia

Symptoms for Refractory Anemia

About this section

Drugs & Therapeutics for Refractory Anemia

About this section

Drug clinical trials:

Search ClinicalTrials for Refractory Anemia

Search NIH Clinical Center for Refractory Anemia

Genetic Tests for Refractory Anemia

About this section

Anatomical Context for Refractory Anemia

About this section

MalaCards organs/tissues related to Refractory Anemia:

31
Bone marrow, Bone, Myeloid, T cells, Neutrophil, Liver, Breast, Eye, Lymph node, Heart, Lung, Skin, Ovary, Monocytes

Animal Models for Refractory Anemia or affiliated genes

About this section

MGI Mouse Phenotypes related to Refractory Anemia:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.0TNF, TET2, RUNX1
2MP:00028738.4RUNX1, RUNX1T1, TET2, EPO
3MP:00053978.1ALAS2, EPO, TNF, TET2, RUNX1
4MP:00107718.1ALAS2, EPO, TNF, RUNX1T1, RUNX1
5MP:00053707.9RUNX1, ABCB7, TET2, TNF, EPO
6MP:00053847.8RUNX1, ABCB7, TET2, TNF, EPO
7MP:00053807.7RUNX1, ABCB7, TNF, EPO, ALAS2
8MP:00053787.7RUNX1, RUNX1T1, ABCB7, TET2, TNF
9MP:00053857.5RUNX1, RUNX1T1, ABCB7, TET2, TNF, EPO
10MP:00053767.5ALAS2, EPO, TNF, ABCB7, RUNX1
11MP:00107687.0ALAS2, RUNX1, RUNX1T1, ABCB7, TET2, TNF

Publications for Refractory Anemia

About this section

Articles related to Refractory Anemia:

(show top 50)    (show all 366)
idTitleAuthorsYear
1
Evolution of chronic myelomonocytic leukemia from refractory anemia: the unusual course of a myelodysplastic syndrome. (23826588)
2013
2
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
3
Molecular similarity between myelodysplastic form of chronic myelomonocytic leukemia and refractory anemia with ring sideroblasts. (23065512)
2013
4
A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression? (22531495)
2012
5
Plasma protein alterations in the refractory anemia with excess blasts subtype 1 subgroup of myelodysplastic syndrome. (22568928)
2012
6
Recombinant human erythropoietin in patients with inflammatory bowel disease and refractory anemia: a 15-year single center experience. (22261528)
2012
7
SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts. (21886174)
2012
8
Refractory anemia leading to renal hemosiderosis and renal failure. (21623097)
2011
9
Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis. (19903679)
2010
10
Analysis of prognostic factors in patients with refractory anemia with excess of blasts (RAEB) reclassified according to WHO proposal. (18676015)
2009
11
Absence of frataxin mutations in refractory anemia with ring sideroblasts (RARS). (18687468)
2009
12
Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease-unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis. (18059483)
2008
13
Transformation of childhood MDS-refractory anemia to acute lymphoblastic leukemia. (17921857)
2007
14
A case of arthritis and vasculitis associated with the refractory anemia with excess of blasts syndrome resistant to glucocorticoid treatment that responded favorably to TNF-alpha blockade. (16859593)
2006
15
The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). (16926301)
2006
16
Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts. (15382262)
2004
17
Refractory anemia and the myelodysplastic syndromes. (15314893)
2004
18
Refractory anemia with excess of blasts in transformation: analysis of reclassification according to the WHO proposals. (12620291)
2003
19
Myelodysplastic syndrome complicated by autoimmune hemolytic anemia: remission of refractory anemia following mycophenolate mofetil. (12483369)
2002
20
Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. (12393428)
2002
21
A cytochemical note on nucleoli of granulocytic precursors and granulocytes in patients suffering from the refractory anemia with excess blasts (RAEB) of the myelodysplastic syndrome (MDS). (12044061)
2002
22
Disappearance of chromosomal abnormalities and recovery of hematopoiesis after immunosuppressive therapy for hypoplastic refractory anemia with excess of blasts. (11307772)
2001
23
Re-evaluation of refractory anemia with excess blasts in transformation. (11597728)
2001
24
Prevalence and survival of myelodysplastic syndrome of the refractory anemia type in hospitalized cognitively different geriatric patients. (11044787)
2000
25
Prolonged response to cyclosporin-A in hypoplastic refractory anemia and correlation with in vitro studies. (10681719)
2000
26
Cytosine arabinoside induced acute interstitial nephritis in a patient treated for refractory anemia with excess of blasts in transformation. (11096300)
2000
27
Clonality analysis of refractory anemia with ring sideroblasts: simultaneous study of clonality and cytochemistry of bone marrow progenitors. (10049048)
1999
28
Megakaryocytic growth in patients with refractory anemia is suppressed by treatment with interferon alpha. (10359063)
1999
29
Recombinant human erythropoietin for the treatment of refractory anemia in lymphoproliferative disorders: preliminary results. (9654164)
1998
30
Severe hypodiploidy in refractory anemia with excess blasts in transformation. (9723043)
1998
31
5q- in a child with refractory anemia with excess blasts: similarities to 5q- syndrome in adults. (9723027)
1998
32
Cell cycle kinetics of hematopoiesis before and after in vivo administration of GM-CSF in refractory anemia: evidence for a shortening of the granulocyte release time. (7516191)
1994
33
Allogeneic bone marrow transplantation for myelodysplastic syndromes of childhood: report of three children with refractory anemia with excess of blasts in transformation and review of the literature. (8426574)
1993
34
Essential thrombocythemia developing into refractory anemia and complicated by acute myeloid leukemia. (1286233)
1992
35
Trisomy 14 in refractory anemia with excess blasts in transformation. (1555198)
1992
36
Oral idarubicin in elderly acute leukemia and refractory anemia with excess of blasts. (2323640)
1990
37
Clinical aspects of the myelodysplastic syndromes (MDS) with special reference to refractory anemia with excess of blasts (RAEB). (2618556)
1989
38
Refractory anemia terminating in acute megakaryoblastic leukemia (M7). (2496548)
1989
39
Refractory anemia with excess of blasts in transformation hematologic and clinical study of 52 patients. (2804925)
1989
40
Translocation t(6;9)(p22.3;q34) in myelodysplastic syndrome--refractory anemia with excess blasts. (3664444)
1987
41
Refractory anemia in the elderly. (3548248)
1987
42
Factors influencing nonleukemic death in refractory anemia, refractory anemia with ring sideroblasts, and refractory anemia with excess of blasts. (3581090)
1987
43
Evidence for 5q- occurring during the course of refractory anemia? (3621144)
1987
44
Cytogenetic study of 88 cases of refractory anemia. (6825068)
1983
45
Ultrastructure of platelet aggregation in refractory anemia and myelomonocytic leukemia. I. Ultrastructure of aggregation in normal controls and general defects in refractory anemia and myelomonocytic leukemia. (1063906)
1976
46
Refractory anemia with dysproteinemia: long-term therapy with low-dose corticosteroids. (4682078)
1973
47
A case of refractory anemia responding well to the combination therapy with vitamin E and iron--report of a case. (4676847)
1972
48
Uracil-uric refractory anemia with peroxidase negative neutrophils. (4159327)
1965
49
Androgen therapy for refractory anemia: report of a case associated with thymoma. (13760488)
1960
50
The simultaneous occurrence of benign thymoma and refractory anemia. (13208746)
1954

Variations for Refractory Anemia

About this section

Expression for genes affiliated with Refractory Anemia

About this section
Search GEO for disease gene expression data for Refractory Anemia.

Pathways for genes affiliated with Refractory Anemia

About this section

Pathways related to Refractory Anemia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5RUNX1T1, RUNX1
2
Show member pathways
Signal transduction PTEN pathway58
9.5RUNX1T1, RUNX1
39.4EPO, TNF

Compounds for genes affiliated with Refractory Anemia

About this section

Compounds related to Refractory Anemia according to GeneCards Suite gene sharing:

(show all 22)
idCompoundScoreTop Affiliating Genes
1vitamin b6439.8EPO, ALAS2
2lenalidomide43 1210.8TNF, EPO
3gm-csf43 2810.7EPO, TNF
4mycophenolate mofetil43 49 1211.7EPO, TNF
5melphalan43 49 1211.6EPO, TNF
6thalidomide43 49 59 1212.6EPO, TNF
7hydrocortisone43 2 59 1212.6EPO, TNF
8imatinib43 49 1211.5EPO, RUNX1
9prednisolone43 28 1211.5RUNX1, TNF
10iron-sulfur439.4ALAS2, ABCB7
11proline439.3ALAS2, RUNX1T1, RUNX1
12urea43 24 1211.2ABCB7, EPO
13protoporphyrin ix43 24 1211.1ALAS2, EPO, ABCB7
14iron43 2410.0ABCB7, EPO, ALAS2
15vegf439.0EPO, TNF, RUNX1
16sialic acid438.9EPO, ABCB7
17aspartate438.9ABCB7, EPO, ALAS2
18threonine438.9ALAS2, RUNX1T1, RUNX1
19lactate438.9EPO, TNF, ABCB7
20butyrate438.7ALAS2, EPO, TNF, RUNX1
21zinc43 249.5ALAS2, ABCB7, RUNX1T1, RUNX1
22oxygen43 249.4ABCB7, TNF, EPO, ALAS2

GO Terms for genes affiliated with Refractory Anemia

About this section

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:00425419.7ALAS2, EPO
2myeloid cell differentiationGO:00300999.6TET2, RUNX1
3response to salt stressGO:00096519.6EPO, TNF
4response to hypoxiaGO:00016669.3ALAS2, TNF
5cellular iron ion homeostasisGO:00068799.1ALAS2, ABCB7
6positive regulation of transcription, DNA-templatedGO:00458938.8RUNX1, TNF, EPO
7positive regulation of transcription from RNA polymerase II promoterGO:00459448.7TNF, TET2, RUNX1

Molecular functions related to Refractory Anemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055157.6ALAS2, EPO, TNF, TET2, RUNX1T1, RUNX1

Products for genes affiliated with Refractory Anemia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Refractory Anemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet