MCID: MCR017
MIFTS: 40

Macrocytic Anemia malady

Summaries for Macrocytic Anemia

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 Macrocytic is from Greek words meaning \"large cell\". A macrocytic class of anemia is an anemia... more...

MalaCards: Macrocytic Anemia, also known as anemia macrocytic, is related to deficiency anemia and megaloblastic anemia. An important gene associated with Macrocytic Anemia is TCN2 (transcobalamin II), and among its related pathways are Heme Biosynthesis and One Carbon Metabolism. The compounds hydroxymethylbilane and uroporphyrinogen-iii have been mentioned in the context of this disorder.

Aliases & Classifications for Macrocytic Anemia

Sources:
8Disease Ontology, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH
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Aliases & Descriptions:

macrocytic anemia 8
anemia macrocytic 8 45
macrocytic anaemia of unspecified cause 8
macrocytic anemia of unspecified cause 8
anemia, macrocytic 61


External Ids:

Disease Ontology8 DOID:2361
NCIt40 C34381
MeSH35 D000748

Related Diseases for Macrocytic Anemia

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia30.8FECH, CDAN1, TCN2, RPS14, RPS19, MTR
2megaloblastic anemia30.6TCN2, MTR
3diamond-blackfan anemia 130.3RPS19, RPS7, RPL5, RPS17, RPS26P6, RPL35A
4pernicious anemia10.6
5thrombocytosis10.3
6tropical sprue10.3
7acute leukemia10.3
8acute erythroid leukemia10.3
9macrocytic anemia, refractory, due to 5q deletion, somatic10.3
10steatorrhea10.3
11n syndrome10.3
12myelodysplastic syndromes10.3
13refractory anemia10.3
14alcohol abuse10.1
15atrophic gastritis10.1
16kwashiorkor10.1
17pancytopenia10.1
18ischemic neuropathy10.1
19homocystinuria10.1
20linitis plastica10.1
21hypochromic anemia10.1
22iron deficiency anemia10.1
23ischemic optic neuropathy10.1
24folic acid deficiency anemia10.1
25arthritis10.1
26bipolar disorder10.1
27thrombocytopenia10.1
28thymoma10.1
29congenital dyserythropoietic anemia type i10.1
30shwachman-diamond syndrome10.1
31thiamine-responsive megaloblastic anemia syndrome10.1
32optic neuropathy, anterior ischemic10.1
3316q24.3 microdeletion syndrome10.1
345q- syndrome10.1
35diamond-blackfan anemia 1210.1
36combined oxidative phosphorylation deficiency 1810.1
37cutaneous porphyria10.0UROD
38cleft palate10.0MTR
39congenital porphyria10.0UROD, FECH
40hereditary coproporphyria10.0FECH, UROD
41acute porphyria10.0FECH, UROD
42variegate porphyria10.0UROD, FECH
43acute intermittent porphyria10.0FECH, UROD
44klippel-feil syndrome10.0RPS26, RPS26P6
45porphyria cutanea tarda10.0UROD, FECH
46vitamin b12 deficiency10.0TCN2, MTR
47methylmalonic acidemia10.0MTR, TCN2
48aplastic anemia10.0RPS14, RPS19
49glucose intolerance10.0TCN2, MTR
50chronic kidney failure10.0MTR, TCN2, UROD

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



Diseases related to macrocytic anemia

Clinical Features for Macrocytic Anemia

Drugs & Therapeutics for Macrocytic Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Genetic Tests for Macrocytic Anemia

Anatomical Context for Macrocytic Anemia

Animal Models for Macrocytic Anemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Macrocytic Anemia

Sources:
51PubMed
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Articles related to Macrocytic Anemia:

(show top 50)    (show all 133)
idTitleAuthorsYear
1
Amisulpride-induced macrocytic anemia. (23487206)
2013
2
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. (24119684)
2013
3
Coprophagia and pica in individuals with mild to moderate dementia and mixed (iron deficiency and macrocytic) anemia. (22188083)
2011
4
Clinico-aetiologic profile of macrocytic anemias with special reference to megaloblastic anemia. (23100955)
2008
5
Azathioprine-induced fatal macrocytic anemia in rabbits. (12593539)
2002
6
87-year-old man with macrocytic anemia. (11213309)
2001
7
Rapid evolution of multiple myeloma after cobalamin therapy for megaloblastic erythropoiesis with macrocytic anemia. (9619920)
1998
8
Dose-related thrombocytopenia and macrocytic anemia associated with valproate use in bipolar disorder. (9108818)
1997
9
Macrocytic anemia. (8546042)
1996
10
A practical approach to the differential diagnosis and evaluation of the adult patient with macrocytic anemia. (1578958)
1992
11
Anterior ischemic optic neuropathy associated with macrocytic anemia. (2150841)
1990
12
Hypothyroidism causing macrocytic anemia unresponsive to B12 and folate. (6864824)
1983
13
Macrocytic anemia, thrombocytosis and nonlobulated megakaryocytes: the 5q-syndrome, a distinct entity. (453227)
1979
14
Investigation of macrocytic anemia. (368738)
1979
15
Erythropoiesis during recovery from macrocytic anemia: macrocytes, normocytes, and microcytes. (922166)
1977
16
Nutritional macrocytic anemia of infancy and childhood. (5475355)
1970
17
KWASHIORKOR IN EGYPT. II. HEMATOLOGIC ASPECTS (THE OCCURENCE OF A MACROCYTIC ANEMIA ASSOCIATED WITH LOW SERUM VITAMIN E AND A WIDE RANGE OF SERUM VITAMIN B12 LEVELS). (14322834)
1965
18
Gastrointestinal lesions causing macrocytic anemia. (5826211)
1965
19
VITAMIN E RESPONSIVE MACROCYTIC ANEMIA. (14064339)
1963
20
Diverticulosis of the jejunum with macrocytic anemia and steatorrhea. (13736665)
1961
21
Severe nutritional macrocytic anemia in emotionally disturbed patients. (13520639)
1958
22
Macrocytic anemia in diseases of the small intestine. (13501366)
1958
23
Reciprocal elevation in serum levels produced by injections of vitamin B12 and folic acid in patients with nutritional macrocytic anemia. (13428317)
1957
24
Pathogenesis and treatment of macrocytic anemia; information obtained with radioactive vitamin B12. (13361587)
1956
25
RELATION between vitamin B12 and macrocytic anemia. (13211347)
1955
26
A case of macrocytic anemia in a dog. (14905888)
1952
27
Macrocytic anemia and Sato's bromsulfalein test in children with nutritional dystrophy. (13038764)
1952
28
FOLIC acid deficiency in macrocytic anemia of pregnancy and infancy. (14907394)
1952
29
Macrocytic anemia due to incorrect nutrition and its relation to malaria]. (13034146)
1952
30
Effect of pregnancy on macrocytic anemia in experimentally produced liver fibrosis. (12977406)
1952
31
Quantitative analysis of the normal and four alternative degrees of an inherited macrocytic anemia in the house mouse. I. Number and size of erythrocytes. (14869351)
1951
32
Nutritional dystrophy with or without macrocytic anemia; studies on the nutrition of children in Hirosaki area. (14922417)
1951
33
Experimental anemias in the rat; I. Macrocytic anemia in chronic pteroylglutamic acid deficiency and after splenectomy in Bartonella muris infection. (15414205)
1950
34
Macrocytic anemia and impaired liver function in eczematous and certain other dermatoses. (14782693)
1950
35
Hemolytic macrocytic anemia. (15406291)
1950
36
Experimental production of nutritional macrocytic anemia in swine. III. Further studies on pteroylglutamic acid deficiency. (14784632)
1950
37
Observations on the effect of an animal protein factor concentrate on persons with the macrocytic anemia of pernicious anemia, of nutritional macrocytic anemia and of sprue, and on persons with nutritional glossitis. (18150159)
1949
38
Neurologic sequelae in macrocytic anemia of gastrointestinal origin following folic acid therapy. (18889324)
1948
39
Macrocytic anemia; report of a case one month postpartum. (18857036)
1948
40
Macrocytic anemia. (18858389)
1948
41
Observations on the bone marrow of persons with chronic hepatic insufficiency and macrocytic anemia. (18873823)
1948
42
The PRESENT status of folic acid in the therapy of macrocytic anemia. (18902639)
1948
43
Effect of extrinsic factor, liver extract, and folic acid on induced macrocytic anemia of swine. (20272771)
1947
44
Synthetic folic acid; the effectiveness of a conjugated form in the treatment of tropical sprue, addisonian pernicious anemia and nutritional macrocytic anemia. (20293021)
1947
45
The effect of folic acid on the blood picture in human macrocytic anemia. (21064560)
1946
46
Treatment of macrocytic anemia with synthetic L. casei factor (folic acid). (20988877)
1946
47
The treatment of macrocytic anemia with Lactobacillus casei factor (pteroylglutamic acid). (20274104)
1946
48
PTERINS and macrocytic anemia factors. (20275442)
1946
49
SYNTHETIC folic acid in macrocytic anemia. (21015931)
1946
50
The activity of another L. casei factor in macrocytic anemia. (20993247)
1946

Genetic Variations for Macrocytic Anemia

Expression for genes affiliated with Macrocytic Anemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Macrocytic Anemia

Search GEO for disease gene expression data for Macrocytic Anemia.

Pathways for genes affiliated with Macrocytic Anemia

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG
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Pathways related to Macrocytic Anemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0FECH, UROD
2
Hide members
9.6MTR, TCN2
39.6MTR, TCN2
4
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7.5RPS10, RPS17, RPS7, RPS19, RPS26, RPS24
5
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6.4RPS26, RPS19, RPS14, RPS7, RPL5, RPS17
6
Hide members
6.4RPS26, RPS19, RPL5, RPS17, RPL11, RPL35A
76.4RPS19, RPS14, RPS7, RPL5, RPS17, RPL11
8
Hide members
6.4RPS7, RPS14, RPS26, RPL5, RPS17, RPL11
9
Hide members
6.4RPL5, RPL11, RPL35A, RPS10, RPS24, RPS17

Compounds for genes affiliated with Macrocytic Anemia

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
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Compounds related to Macrocytic Anemia according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1hydroxymethylbilane45 2411.3FECH, UROD
2uroporphyrinogen-iii4510.3FECH, UROD
3protoporphyrinogen4510.3UROD, FECH
4pyrrole4510.2UROD, FECH
5formyl-coa45 2411.2UROD, FECH
6porphyrin4510.2UROD, FECH
7porphobilinogen45 11 2412.1UROD, FECH
85-aminolevulinic acid45 2411.0UROD, FECH
9corrinoid4510.0MTR, TCN2
10adenosylcobalamin45 2410.9TCN2, MTR
11methylcobalamin45 2410.9TCN2, MTR
12protoporphyrin ix45 11 2411.9UROD, FECH
13cyanocobalamin50 11 2411.9MTR, TCN2
14hydroxocobalamin45 1110.9TCN2, MTR
15cystathionine459.8TCN2, MTR
16methylmalonic acid45 2410.7MTR, TCN2
17vitamin b6459.7TCN2, MTR, FECH
18haem459.7UROD, FECH
19cobalamin45 2410.6TCN2, MTR
20rrna459.6RPL11, RPL5, RPS19

GO Terms for genes affiliated with Macrocytic Anemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Macrocytic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small ribosomal subunitGO:0159359.7RPS24, RPS26
2cytosolic large ribosomal subunitGO:0226259.1RPL5, RPL11, RPL35A
3ribosomeGO:0058409.1RPS19, RPS7, RPS17, RPS10
4cytosolic small ribosomal subunitGO:0226277.6RPS26, RPS24, RPS10, RPS17, RPS7, RPS14
5nucleolusGO:0057306.9RPS24, RPS10, RPL11, RPL5, RPS7, RPS14
6cytosolGO:0058295.6RPS26, RPS19, RPS14, RPS7, RPL5, RPS17

Biological processes related to Macrocytic Anemia according to GeneCards/GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:00678310.0FECH, UROD
2porphyrin-containing compound metabolic processGO:0067789.9UROD, FECH
3erythrocyte homeostasisGO:0341019.7RPS17, RPS24
4ribosomal large subunit biogenesisGO:0422739.6RPL35A, RPL5, RPL11
5maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:0004629.6RPS24, RPS19
6cobalamin metabolic processGO:0092359.3MTR, TCN2
7maturation of SSU-rRNAGO:0304909.3RPS14, RPS19
8ribosomal small subunit assemblyGO:0000289.1RPS14, RPS19, RPS17
9ribosomal small subunit biogenesisGO:0422749.1RPS7, RPS17, RPS24, RPS19
10erythrocyte differentiationGO:0302189.1FECH, RPS19, RPS14
11rRNA processingGO:0063648.1RPS7, RPS19, RPS24, RPL5, RPS17, RPL11
12translational terminationGO:0064156.7RPL11, RPS17, RPL5, RPS7, RPS14, RPS19
13SRP-dependent cotranslational protein targeting to membraneGO:0066146.7RPS19, RPS26, RPS14, RPS7, RPL5, RPS24
14viral transcriptionGO:0190836.7RPS14, RPS7, RPL5, RPS17, RPL11, RPL35A
15viral life cycleGO:0190586.7RPS26, RPS19, RPS14, RPS7, RPL5, RPS17
16RNA metabolic processGO:0160706.7RPS19, RPS26, RPS14, RPS7, RPL5, RPS24
17mRNA metabolic processGO:0160716.7RPS24, RPS10, RPL35A, RPL11, RPS17, RPL5
18translational initiationGO:0064136.7RPS19, RPS26, RPS14, RPS7, RPL5, RPS17
19translationGO:0064126.7RPS24, RPS10, RPL35A, RPL11, RPS17, RPL5
20nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:0001846.7RPS17, RPS24, RPS10, RPL35A, RPL11, RPL5
21translational elongationGO:0064146.7RPS26, RPS24, RPL35A, RPL11, RPS17, RPL5
22viral processGO:0160326.7RPL35A, RPL5, RPL11, RPS14, RPS17, RPS10
23cellular protein metabolic processGO:0442676.6RPS19, RPS14, RPL5, RPS24, RPS10, RPL35A
24gene expressionGO:0104676.6RPS24, RPS10, RPL35A, RPS26, RPS19, RPS14

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:0314199.6TCN2, MTR
2structural constituent of ribosomeGO:0037356.4RPS24, RPS26, RPS19, RPS14, RPS7, RPL5

Products for genes affiliated with Macrocytic Anemia

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Sources for Macrocytic Anemia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet