MCID: MCR017

Summaries for Macrocytic Anemia

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44Wikipedia, 22MalaCards
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Wikipedia: Macrocytic is from Greek words meaning \"large cell\". A macrocytic class of anemia is an anemia...44 more...

MalaCards: Macrocytic Anemia, also known as anemia macrocytic, is related to diamond-blackfan anemia and aplastic anemia. An important gene associated with Macrocytic Anemia is TCN2 (transcobalamin II), and among its related pathways are Metabolism of RNA and Metabolism of mRNA. The drugs nandrolone and oxymetholone and the compounds corrinoid and adenosylcobalamin have been mentioned in the context of this disorder.

Aliases & Descriptions for Macrocytic Anemia

Sources:
6Disease Ontology, 7diseasecard, 8DISEASES, 32Novoseek , 43UMLS, 24MeSH, 40SNOMED-CT, 27NCIt
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Aliases & Descriptions:

macrocytic anemia 6 7 8
anemia macrocytic 6 32
macrocytic anemia of unspecified cause (disorder) 6
macrocytic anaemia of unspecified cause 6
macrocytic anemia (disorder) 6
anemia, macrocytic 43
anemia 43

External Ids:

SNOMED-CT40 191277004, 83414005, 234356001 191151004, more

Related Diseases for Macrocytic Anemia

Sources:
13GeneCards, 14GeneDecks
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Diseases related to macrocytic anemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 487)
idRelated DiseaseScoreTop Affiliating Genes
1diamond-blackfan anemia34.8RPL5, RPL11
2aplastic anemia34.0RPL11, RPS19, RPL5, RPS24, RPS17, RPL35A
3thiamine-responsive megaloblastic anemia syndrome32.7TCN2, MTR
4congenital porphyria27.2FECH, UROD
5vitamin b12 deficiency26.9MTR, TCN2
6klippel-feil syndrome26.9RPS26P6, RPS26
7cartilage-hair hypoplasia24.6RPS14, RPS19
8malaria24.2TCN2, RPL11, RPS19, RPS10, RPL5, RPS7
9anemia23.4TCN2, RPL11, RPS19, RPS10, RPL5, RPS7
10short stature22.6RPL11, RPS19, RPS10, RPL5, RPS7, RPS24
11cleft palate21.5TCN2, RPL11, RPS19, RPS10, RPL5, RPS7
12methylmalonic acidemia with homocystinuria13.1MTR, TCN2
13cblf13.1TCN2, MTR
14methylmalonic aciduria and homocystinuria13.0TCN2, MTR
15homocysteine plasma level12.9TCN2, MTR
16variegate porphyria12.7UROD, FECH
17glucose intolerance12.7MTR, TCN2
18coproporphyria12.7UROD, FECH
19acute hepatic porphyria12.7UROD, FECH
20acute porphyria12.7FECH, UROD
21neural tube defect12.6TCN2, MTR
22acute intermittent porphyria12.6FECH, UROD
23methylmalonic acidemia12.4MTR, TCN2
24treacher collins syndrome12.4RPL11, RPL5, RPL35A, RPS14
25fanconi's anemia11.8
26mayer-rokitansky-kuster-hauser syndrome11.8TCN2, FECH, MTR, UROD
27hemolytic anemia11.1
28pierre robin sequence10.2RPL11, RPS19, RPS10, RPL5, RPS7, RPS24
29sickle cell anemia10.1
30iron deficiency anemia9.8
31sideroblastic anemia9.7
32x-linked sideroblastic anemia9.6
33myelodysplastic syndrome9.4
34autoimmune hemolytic anemia9.3
35anemia of prematurity9.0
36congenital dyserythropoietic anemia8.9
37megaloblastic anemia8.8
38hepatitis8.7
39dyserythropoietic anemia8.5
40arthritis8.5
41leukemia8.5
42thalassemia8.4
43rheumatoid arthritis8.3
44pernicious anemia8.3
45kidney disease8.2
46beta thalassemia8.1
47pyruvate kinase deficiency8.0
48myeloma8.0
49paroxysmal nocturnal hemoglobinuria8.0
50microcytic anemia7.9

Graphical network of the top 20 diseases related to macrocytic anemia:



Graphical network of diseases related to macrocytic anemia

Clinical Features for Macrocytic Anemia

Drugs & Therapeutics for Macrocytic Anemia

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for macrocytic anemia

Drug clinical trials:

Search ClinicalTrials for macrocytic anemia

Search NIH Clinical Center for macrocytic anemia

Search CenterWatch for macrocytic anemia

Inferred drug relations via UMLS/NDF-RT:

43 28 darbepoetin alfa,recombinant, epoetin alfa,recombinant, nandrolone, nandrolone decanoate, nandrolone phenpropionate, oxymetholone, sodium ascorbate

Genetic Tests for Macrocytic Anemia

Anatomical Context for Macrocytic Anemia

Phenotypes for genes affiliated with Macrocytic Anemia

Publications for genes affiliated with Macrocytic Anemia

Sources:
35PubMed
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Articles related to macrocytic anemia:

idTitleAuthorsYearAffiliating Genes
1A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. (19966810)Barlow J.L.... McKenzie A.N.2010RPS14
2Macrocytic anemia with anisocytosis due to alcohol abuse and vitamin B6 deficiency (9866426)Iwama H.... Toyama K.1998FECH, UROD

Expression for genes affiliated with Macrocytic Anemia

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Macrocytic Anemia

Pathways for genes affiliated with Macrocytic Anemia

Sources:
38Reactome, 41Thomson Reuters, 20KEGG
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Pathways related to macrocytic anemia according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Metabolism of RNA389.2RPL35A, RPL5, RPL11
2Metabolism of mRNA387.5RPS19, RPS10, RPS7, RPS24, RPS17, RPS14
3CFTR translational fidelity (class I mutations)416.6RPS26, RPL11, RPS14, RPL35A, RPS17, RPS24
4Ribosome206.5RPL35A, RPS17, RPS24, RPS7, RPL5, RPS10

Compounds for genes affiliated with Macrocytic Anemia

Sources:
32Novoseek , 18HMDB, 34PharmGKB, 9DrugBank
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Compounds related to macrocytic anemia according to GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1corrinoid32 10.1MTR, TCN2
2adenosylcobalamin32 18 11.0TCN2, MTR
3methylcobalamin32 18 11.0MTR, TCN2
4cyanocobalamin34 9 18 9 13.0TCN2, MTR
5hydroxocobalamin32 9 9 12.0TCN2, MTR
6cystathionine32 9.9MTR, TCN2
7hydroxymethylbilane32 18 10.8UROD, FECH
8methylmalonic acid32 18 10.8TCN2, MTR
9protoporphyrinogen32 9.8FECH, UROD
10uroporphyrinogen-iii32 9.8FECH, UROD
11pyrrole32 9.7UROD, FECH
12formyl-coa32 18 10.7UROD, FECH
13porphyrin32 9.7FECH, UROD
14cobalamin32 18 10.6MTR, TCN2
15porphobilinogen32 9 18 9 12.5FECH, UROD
16haem32 9.5UROD, FECH
17vitamin b632 9.4MTR, FECH, TCN2
18protoporphyrin ix32 9 18 9 12.2UROD, FECH
19rrna32 9.0RPL11, RPS19, RPL5

GO Terms for genes affiliated with Macrocytic Anemia

Sources:
12Gene Ontology
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Cellular components related to macrocytic anemia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small ribosomal subunitGO:0159359.8RPS26, RPS24
2ribosomeGO:0058409.4RPS10, RPS7, RPS17
3cytosolic large ribosomal subunitGO:0226259.2RPL35A, RPL5, RPL11
4cytosolic small ribosomal subunitGO:0226277.9RPS26, RPS19, RPS10, RPS7, RPS24, RPS17
5nucleolusGO:0057307.1RPL11, RPS19, RPS10, RPL5, RPS7, RPS14
6cytosolGO:0058295.8RPL11, RPS19, RPS10, RPL5, RPS7, RPS24

Biological processes related to macrocytic anemia according to GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1ribosomal small subunit assemblyGO:00002810.0RPS17, RPS14
2erythrocyte homeostasisGO:0341019.7RPS17, RPS24
3heme biosynthetic processGO:0067839.5UROD, FECH
4ribosomal large subunit biogenesisGO:0422739.3RPL35A, RPL5, RPL11
5porphyrin-containing compound metabolic processGO:0067789.2UROD, FECH
6erythrocyte differentiationGO:0302188.9FECH, RPS14, RPS19
7ribosomal small subunit biogenesisGO:0422748.8RPS19, RPS7, RPS24, RPS17
8rRNA processingGO:0063647.6RPL11, RPS19, RPL5, RPS7, RPS24, RPS17
9viral transcriptionGO:0190836.9RPL11, RPS14, RPL35A, RPS17, RPS24, RPS7
10mRNA metabolic processGO:0160716.9RPS14, RPL35A, RPS17, RPS24, RPS7, RPL5
11SRP-dependent cotranslational protein targeting to membraneGO:0066146.9RPL11, RPS14, RPL35A, RPS17, RPS24, RPS7
12viral infectious cycleGO:0190586.9RPS26, RPL11, RPS14, RPL35A, RPS17, RPS24
13nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:0001846.9RPS26, RPL11, RPS14, RPL35A, RPS17, RPS24
14translational initiationGO:0064136.9RPS14, RPL35A, RPS17, RPS24, RPS7, RPL5
15translational elongationGO:0064146.9RPS26, RPL11, RPS14, RPL35A, RPS17, RPS24
16translational terminationGO:0064156.8RPL35A, RPS17, RPS24, RPS7, RPL5, RPS10
17RNA metabolic processGO:0160706.8RPS14, RPL35A, RPS17, RPS24, RPS7, RPL5
18translationGO:0064126.8RPL11, RPS26, RPS14, RPL35A, RPS17, RPS24
19viral reproductionGO:0160326.8RPL11, RPS19, RPS10, RPL5, RPS7, RPS24
20cellular protein metabolic processGO:0442676.8RPL5, RPS10, RPS19, RPL11, RPS7, RPS24
21gene expressionGO:0104676.7RPL11, RPS19, RPS10, RPL5, RPS7, RPS24

Molecular functions related to macrocytic anemia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:0314199.4TCN2, MTR
2RNA bindingGO:0037238.1RPS14, RPS7, RPL5, RPS19, RPL11
3structural constituent of ribosomeGO:0037356.8RPS26, RPL11, RPS19, RPL5, RPS7, RPS24

Sources for Macrocytic Anemia

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS