MCID: RFR010
MIFTS: 50

Refractory Anemia malady

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

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MalaCards based summary: Refractory Anemia, also known as anemia, refractory, is related to thrombocytosis and myelodysplastic syndromes. 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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Sources:
48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
See all sources

Refractory Anemia, Aliases & Descriptions:

Name: Refractory Anemia 48
 
Anemia, Refractory 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
refractory anemia:
Age of onset: Adulthood


External Ids:

ICD10 via Orphanet26 D46.7
UMLS via Orphanet63 C0002893
MESH via Orphanet35 D000753

Related Diseases for Refractory Anemia

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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
1thrombocytosis31.3TET2, EPO
2myelodysplastic syndromes31.1RUNX1, EPO
3aplastic anemia30.8ALAS2, ABCB7
4myelofibrosis30.6EPO, TET2
5acute leukemia30.5RUNX1, RUNX1T1, EPO
6sideroblastic anemia30.4ALAS2, ABCB7
7polycythemia vera30.3EPO, TET2
8leukemia30.3ALAS2, EPO, TNF, TET2, RUNX1T1, RUNX1
9acute promyelocytic leukemia30.1RUNX1T1, RUNX1
10monocytic leukemia30.0TNF, RUNX1
11x-linked sideroblastic anemia30.0ALAS2, ABCB7
12deficiency anemia29.7ALAS2, EPO, ABCB7
13refractory anemia with excess blasts10.8
14refractory anemia with excess blasts in transformation10.6
15acute myeloid leukemia10.6
16myeloid leukemia10.6
17chronic myelomonocytic leukemia10.4
18hemochromatosis10.4
19systemic lupus erythematosus10.2
20pyridoxine-refractory autosomal recessive sideroblastic anemia10.2
21siderosis10.2
22lupus erythematosus10.2
23lymphoblastic leukemia10.2
24mediastinitis10.2
25thymoma10.2
26essential thrombocythemia10.2
27galactosemia10.2TNF
28microcytic anemia10.2ALAS2, EPO
29sickle cell disease10.1ALAS2, EPO
30acute lymphoblastic leukemia10.1
31chronic lymphocytic leukemia10.1
32hepatitis10.1
33hemosiderosis10.1
34porphyria cutanea tarda10.1
35porphyria10.1
36vasculitis10.1
375q- syndrome10.1
38myelodysplastic syndrome, somatic10.1
39refractory anemia with excess blasts type 210.1
40refractory anemia with excess blasts type 110.1
41bone marrow cancer10.1RUNX1, EPO
42acute erythroid leukemia10.1ALAS2, EPO
43pearson syndrome10.0ABCB7, ALAS2
44hematologic cancer10.0RUNX1T1, RUNX1
45arthritis10.0
46crohn's disease10.0
47hemolytic anemia10.0
48hodgkin's lymphoma10.0
49neutropenia10.0
50non-hodgkin lymphoma10.0

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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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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MalaCards organs/tissues related to Refractory Anemia:

32
Bone marrow, Bone, Myeloid, T cells, Neutrophil, Liver, Eye, Lymph node, Heart, Lung, Breast, Skin, Ovary, Monocytes

Animal Models for Refractory Anemia or affiliated genes

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MGI Mouse Phenotypes related to Refractory Anemia:

36 (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

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Articles related to Refractory Anemia:

(show top 50)    (show all 362)
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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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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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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Compounds related to Refractory Anemia according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1vitamin b6449.8EPO, ALAS2
2lenalidomide44 1110.8TNF, EPO
3gm-csf44 2810.7EPO, TNF
4mycophenolate mofetil44 50 1111.7EPO, TNF
5melphalan44 50 1111.6EPO, TNF
6thalidomide44 50 61 1112.6EPO, TNF
7hydrocortisone44 2 61 1112.6EPO, TNF
8imatinib44 50 1111.5EPO, RUNX1
9prednisolone44 28 1111.5RUNX1, TNF
10iron-sulfur449.4ALAS2, ABCB7
11proline449.3ALAS2, RUNX1T1, RUNX1
12urea44 24 1111.2ABCB7, EPO
13protoporphyrin ix44 24 1111.1ALAS2, EPO, ABCB7
14iron44 2410.0ABCB7, EPO, ALAS2
15vegf449.0EPO, TNF, RUNX1
16sialic acid448.9EPO, ABCB7
17aspartate448.9ABCB7, EPO, ALAS2
18threonine448.9ALAS2, RUNX1T1, RUNX1
19lactate448.9EPO, TNF, ABCB7
20butyrate448.7ALAS2, EPO, TNF, RUNX1
21zinc44 249.5ALAS2, ABCB7, RUNX1T1, RUNX1
22oxygen44 249.4ABCB7, TNF, EPO, ALAS2

GO Terms for genes affiliated with Refractory Anemia

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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:0300999.6TET2, RUNX1
3response to salt stressGO:0096519.6EPO, TNF
4response to hypoxiaGO:0016669.3ALAS2, TNF
5cellular iron ion homeostasisGO:0068799.1ALAS2, ABCB7
6positive regulation of transcription, DNA-templatedGO:0458938.8RUNX1, TNF, EPO
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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet