MCID: RFR010
MIFTS: 48

Refractory Anemia malady

Blood diseases, Cancer diseases, Rare diseases categories
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Summaries for Refractory Anemia

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MalaCards: Refractory Anemia, also known as refractory anemia, without ringed sideroblasts, without excess blasts, is related to myelodysplastic syndromes and thrombocytosis. 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

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49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
refractory anemia:
Age of onset: Adulthood


Aliases & Descriptions:

refractory anemia 49
refractory anemia, without ringed sideroblasts, without excess blasts 62


External Ids:

MESH via Orphanet36 D000753
ICD10 via Orphanet26 D46.7
SNOMED-CT via Orphanet59 109996008, 128845005
UMLS via Orphanet63 C0002893

Related Diseases for Refractory Anemia

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17GeneCards, 18GeneDecks
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Diseases related to Refractory Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1myelodysplastic syndromes31.2EPO, RUNX1
2thrombocytosis31.1TET2, EPO
3leukemia31.0TET2, ALAS2, EPO, TNF, RUNX1, RUNX1T1
4aplastic anemia30.8ABCB7, ALAS2
5acute leukemia30.5RUNX1T1, RUNX1, EPO
6sideroblastic anemia30.3ABCB7, ALAS2
7myelofibrosis30.3TET2, EPO
8polycythemia vera30.0EPO, TET2
9acute promyelocytic leukemia30.0RUNX1T1, RUNX1
10monocytic leukemia30.0TNF, RUNX1
11x-linked sideroblastic anemia30.0ALAS2, ABCB7
12deficiency anemia29.9ALAS2, ABCB7, EPO
13refractory anemia with excess blasts10.8
14refractory anemia with excess blasts in transformation10.6
15acute myeloid leukemia10.6
16myeloid leukemia10.6
17hemochromatosis10.4
18chronic myelomonocytic leukemia10.4
19refractory cytopenia with multilineage dysplasia10.3
20pyridoxine-refractory autosomal recessive sideroblastic anemia10.2
21systemic lupus erythematosus10.2
22lupus erythematosus10.2
23lymphoblastic leukemia10.2
24thymoma10.2
25essential thrombocythemia10.2
26acquired idiopathic sideroblastic anemia10.2
27siderosis10.1
28hemosiderosis10.1
29chronic lymphocytic leukemia10.1
30mediastinitis10.1
31vasculitis10.1
325q- syndrome10.1
33myelodysplastic syndrome, somatic10.1
34refractory anemia with excess blasts type 210.1
35refractory anemia with excess blasts type 110.1
36galactosemia10.1TNF
37microcytic anemia10.0ALAS2, EPO
38sickle cell disease10.0EPO, ALAS2
39myeloproliferative disorder10.0EPO, RUNX1
40acute erythroid leukemia10.0EPO, ALAS2
41pearson syndrome10.0ALAS2, ABCB7
42hematologic cancer10.0RUNX1, RUNX1T1
43crohn's disease10.0
44relapsing polychondritis10.0
45gastrointestinal stromal tumor10.0
46polycystic ovary syndrome10.0
47hemoglobinuria10.0
48iron deficiency anemia10.0
49bullous pemphigoid10.0
50autoimmune hemolytic anemia10.0

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



Diseases related to refractory anemia

Symptoms for Refractory Anemia

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Drugs & Therapeutics for Refractory Anemia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Refractory Anemia

Search NIH Clinical Center for Refractory Anemia

Genetic Tests for Refractory Anemia

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Anatomical Context for Refractory Anemia

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33MalaCards
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MalaCards organs/tissues related to Refractory Anemia:

33
Bone marrow, Bone, Myeloid, T cells, Liver, Breast, Heart, Lymph node, Skin, Ovary, Eye, Monocytes, Lung

Animal Models for Refractory Anemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Refractory Anemia:

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

Publications for Refractory Anemia

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52PubMed
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Articles related to Refractory Anemia:

(show top 50)    (show all 357)
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

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Expression for genes affiliated with Refractory Anemia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Refractory Anemia

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Pathways for genes affiliated with Refractory Anemia

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50PathCards, 5Cell Signaling Technology, 30KEGG, 60Thomson Reuters
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Pathways related to Refractory Anemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5RUNX1T1, RUNX1
2
Show member pathways
Signal transduction PTEN pathway60
9.5RUNX1T1, RUNX1
39.4EPO, TNF

Compounds for genes affiliated with Refractory Anemia

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45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 61Tocris Bioscience, 3BitterDB, 24HMDB
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Compounds related to Refractory Anemia according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1vitamin b6459.8EPO, ALAS2
2lenalidomide45 1110.8EPO, TNF
3gm-csf45 2910.7TNF, EPO
4mycophenolate mofetil45 51 1111.7TNF, EPO
5melphalan45 51 1111.6EPO, TNF
6thalidomide45 51 61 1112.6EPO, TNF
7hydrocortisone45 3 61 1112.6TNF, EPO
8imatinib45 51 1111.5RUNX1, EPO
9prednisolone45 29 1111.5TNF, RUNX1
10iron-sulfur459.4ALAS2, ABCB7
11proline459.3RUNX1, RUNX1T1, ALAS2
12urea45 24 1111.2EPO, ABCB7
13sialic acid459.1EPO, ABCB7
14protoporphyrin ix45 24 1111.1EPO, ALAS2, ABCB7
15iron45 2410.0EPO, ABCB7, ALAS2
16vegf459.0EPO, RUNX1, TNF
17aspartate458.9ALAS2, EPO, ABCB7
18lactate458.9ABCB7, TNF, EPO
19butyrate458.7RUNX1, EPO, ALAS2, TNF
20threonine458.7ALAS2, RUNX1T1, RUNX1
21zinc45 249.5ALAS2, ABCB7, RUNX1T1, RUNX1
22oxygen45 249.4ABCB7, TNF, EPO, ALAS2

GO Terms for genes affiliated with Refractory Anemia

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16Gene Ontology
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Biological processes related to Refractory Anemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:0425419.7ALAS2, EPO
2myeloid cell differentiationGO:0300999.6RUNX1, TET2
3response to salt stressGO:0096519.6EPO, TNF
4response to hypoxiaGO:0016669.3TNF, ALAS2
5cellular iron ion homeostasisGO:0068799.1ABCB7, ALAS2
6positive regulation of transcription, DNA-templatedGO:0458938.8EPO, TNF, RUNX1
7positive regulation of transcription from RNA polymerase II promoterGO:0459448.7TNF, TET2, RUNX1

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.6ALAS2, EPO, TNF, TET2, RUNX1T1, RUNX1

Products for genes affiliated with Refractory Anemia

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Sources for Refractory Anemia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet