MCID: RFR010
MIFTS: 39

Refractory Anemia malady

Blood diseases, Cancer diseases categories

Summaries for Refractory Anemia

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32MalaCards
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MalaCards: Refractory Anemia, also known as refractory anemia, without ringed sideroblasts, without excess blasts, is related to sideroblastic anemia and leukemia. 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 antithymoglobulin and mps-l have been mentioned in the context of this disorder. Related mouse phenotypes are embryogenesis and integument.

Aliases & Classifications for Refractory Anemia

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48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
refractory anemia:
Age of onset: Adulthood


Aliases & Descriptions:

refractory anemia 48
refractory anemia, without ringed sideroblasts, without excess blasts 60


External Ids:

MESH via Orphanet35 D000753
ICD10 via Orphanet26 D46.7
SNOMED-CT via Orphanet57 109996008, 128845005
UMLS via Orphanet61 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 145)
idRelated DiseaseScoreTop Affiliating Genes
1sideroblastic anemia31.3PUS1, UROD, ABCB7, FXN, ALAS2
2leukemia31.2RUNX1, RUNX1T1, CSF3, TNF, OSM, JAK2
3acute leukemia31.0RUNX1, RUNX1T1, CSF3, JAK2, MPL, CDKN2B
4thrombocytosis30.9CSF3, JAK2, MPL, EPO, TET2
5aplastic anemia30.8ALAS2, ABCB7, PIGA
6myeloid leukemia30.8RUNX1, RUNX1T1, CSF3, JAK2, MPL, CDKN2B
7hemochromatosis30.5HAMP, UROD, FXN
8deficiency anemia30.2ALAS2, ABCB7, EPO, MPL, PIGA, JAK2
9hepatitis30.1UROD, ABCB7
10porphyria cutanea tarda30.1UROD, FECH
11myelofibrosis30.1JAK2, EPO
12hemosiderosis30.1EPO
13porphyria30.1ALAS2, UROD, FECH
14hemoglobinuria29.9PIGA
15iron deficiency anemia29.9EPO, FECH
16x-linked sideroblastic anemia29.9ABCB7, ALAS2
17pancytopenia29.9CSF3, MPL, EPO
18neutropenia29.9EPO, MPL, CSF3
19polycythemia29.9EPO, MPL, JAK2
20polycythemia vera29.9JAK2, MPL, EPO, TET2
21meningioma29.9MN1, CDKN2B
22acute lymphocytic leukemia29.9RUNX1, CSF3, JAK2, MPL, CDKN2B
23arthritis29.9TNF, OSM
24acute myeloid leukemia10.5
25refractory anemia with excess blasts in transformation10.3
26refractory anemia with excess blasts10.2
27refractory anemia with excess blasts-210.2
28refractory anemia with excess blasts-110.2
29pyridoxine-refractory autosomal recessive sideroblastic anemia10.2
30systemic lupus erythematosus10.2
31siderosis10.2
32lupus erythematosus10.2
33lymphoblastic leukemia10.2
34mediastinitis10.2
35thymoma10.2
36acquired idiopathic sideroblastic anemia10.2
37adult syndrome10.1
38chronic lymphocytic leukemia10.1
39vasculitis10.1
40myelodysplastic syndrome, somatic10.1
41multiple myeloma10.0CSF3
42myocardial infarction10.0ABCB7
43tuberculosis10.0TNF
44ulcerative colitis10.0TNF
45systemic mastocytosis10.0TET2
46portal vein thrombosis10.0ABCB7
47peritonitis10.0TNF
48majeed syndrome10.0FXN
49juvenile myelomonocytic leukemia10.0RUNX1
50hypertriglyceridemia10.0ABCB7

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



Diseases related to refractory anemia

Clinical Features for Refractory Anemia

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Drugs & Therapeutics for Refractory Anemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Refractory Anemia

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Animal Models for Refractory Anemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Refractory Anemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538010.1ALAS2, ABCB7, PIGA, FXN
2MP:00107719.9CDKN2B, PIGA, RUNX1, RUNX1T1, FECH, OSM
3MP:00020069.7CDKN2B, PIGA, JAK2, TNF, RUNX1, TET2
4MP:00053709.6RUNX1, FECH, TNF, UROD, EPO, ABCB7
5MP:00053769.5ALAS2, FXN, ABCB7, MPL, UROD, HAMP
6MP:00053879.4TET2, FECH, CSF3, RUNX1, TNF, JAK2
7MP:00053979.2JAK2, TNF, HAMP, ALAS2, FECH, RUNX1
8MP:00053789.2RUNX1, RUNX1T1, FECH, TNF, HAMP, JAK2
9MP:00053849.0JAK2, PIGA, MPL, CDKN2B, EPO, RUNX1
10MP:00107688.8RUNX1, ABCB7, EPO, CDKN2B, MN1, MPL

Publications for Refractory Anemia

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Genetic Variations for Refractory Anemia

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Expression for genes affiliated with Refractory Anemia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome, 4Cell Signaling Technology, 12EMD Millipore, 51QIAGEN
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Compounds for genes affiliated with Refractory Anemia

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB, 2BitterDB
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Compounds related to Refractory Anemia according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1antithymoglobulin4410.6EPO, CSF3
2mps-l4410.6EPO, CSF3
3metenolone acetate4410.6EPO, CSF3
4carboxymethylcellulose4410.6EPO, CSF3
5hydroxymethylbilane44 2411.6FECH, UROD
6lenalidomide44 1111.6EPO, CSF3, TNF
7anagrelide44 1111.6MPL, EPO, JAK2
8pegfilgrastim44 1111.6EPO, CSF3
9st 6384410.6CSF3, TNF
10formyl-coa44 2411.5FECH, UROD, ALAS2
11pp 1004410.5JAK2, EPO
12haem4410.5FECH, ALAS2, UROD
13gm-csf44 2811.5TNF, CSF3, EPO
14vitamin b64410.5ALAS2, EPO, FECH
15uroporphyrinogen-iii4410.5UROD, FECH
16il 114410.5EPO, OSM, CSF3
175-aminolevulinic acid44 2411.5ALAS2, FECH, UROD
18filgrastim44 1111.5OSM, CSF3, EPO
19iron dextran44 1111.5UROD, EPO
20protoporphyrinogen4410.5FECH, UROD
21deferoxamine44 1111.5EPO, FECH, FXN
22methylcellulose4410.5EPO, PIGA, CSF3
23interferon gamma4410.4JAK2, TNF
24iron-sulfur4410.4ALAS2, ABCB7, FECH, FXN
25pixy3214410.4EPO, CSF3
26imatinib44 49 1112.4EPO, RUNX1, CSF3, JAK2
27melphalan44 1111.4CSF3, EPO, TNF
28pyrrole4410.4FECH, UROD
29butyrate4410.4RUNX1, JAK2, EPO, ALAS2, TNF
30methotrexate44 49 1112.3TNF, CSF3, EPO, CDKN2B
31dmso4410.3CSF3, FECH, UROD, RUNX1
32endotoxin4410.3OSM, JAK2, CSF3, TNF
33heme28 11 2412.3UROD, ALAS2, FXN, ABCB7, FECH
34gp 1304410.2CSF3, JAK2, EPO, OSM, MPL
35vesnarinone4410.2CSF3, TNF
36protoporphyrin ix44 11 2412.2FECH, UROD, EPO, ABCB7, FXN, ALAS2
37vitamin-e4410.2ABCB7, JAK2, FXN
38thymidine44 2411.1TNF, EPO, OSM, CSF3, JAK2
39oxygen44 2411.1FXN, EPO, UROD, JAK2, ALAS2, TNF
40azathioprine44 49 2 1113.1CDKN2B, OSM, EPO
41serine4410.1CDKN2B, RUNX1T1, TNF, MPL, OSM, JAK2
42zinc44 2411.1RUNX1, RUNX1T1, FECH, MPL, ALAS2, ABCB7
43threonine4410.0CDKN2B, RUNX1, MPL, RUNX1T1, OSM, JAK2
44vegf4410.0RUNX1, JAK2, TNF, OSM, MPL, EPO
45iron44 2411.0ABCB7, FXN, MPL, UROD, HAMP, ALAS2
46alanine449.9ABCB7, ALAS2, OSM, MPL, FECH, JAK2
47retinoic acid44 2410.9CDKN2B, JAK2, CSF3, TNF, MN1, OSM
48ethanol44 49 11 2412.9JAK2, UROD, ABCB7, HAMP
49hydroxyurea44 49 1111.8JAK2, CSF3, EPO
50cysteine449.8MPL, JAK2, FXN, OSM, UROD, FECH

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 16)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:04254110.5ALAS2, EPO
2tyrosine phosphorylation of Stat1 proteinGO:04250810.4JAK2, OSM
3tyrosine phosphorylation of Stat5 proteinGO:04250610.4JAK2, OSM
4porphyrin-containing compound metabolic processGO:00677810.4ALAS2, FECH, UROD
5tyrosine phosphorylation of Stat3 proteinGO:04250310.4OSM, JAK2
6erythrocyte differentiationGO:03021810.3FECH, JAK2, ALAS2
7cellular iron ion homeostasisGO:00687910.3ABCB7, FXN, ALAS2, HAMP
8heme biosynthetic processGO:00678310.3FXN, FECH, ALAS2, UROD
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:05073110.1OSM, JAK2, CSF3
14behavioral response to painGO:0482669.9OSM, RUNX1
15positive regulation of cell proliferationGO:0082849.9FXN, EPO, JAK2, OSM, CSF3
16positive regulation of transcription from RNA polymerase II promoterGO:0459449.9OSM, CDKN2B, TET2, PUS1, TNF, CSF3

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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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet