MCID: MCR017
MIFTS: 45

Macrocytic Anemia malady

Blood diseases category
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Summaries for Macrocytic Anemia

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65Wikipedia, 33MalaCards
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Wikipedia:65 The term macrocytic is from Greek words meaning \"large cell\". A macrocytic class of anemia is an... more...

MalaCards: Macrocytic Anemia, also known as anemia macrocytic, is related to diamond-blackfan anemia 1 and pernicious anemia. An important gene associated with Macrocytic Anemia is TCN2 (transcobalamin II), and among its related pathways are Metabolism of porphyrins and p53 Pathway. The compounds hydroxymethylbilane and protoporphyrinogen have been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and bone.

Aliases & Classifications for Macrocytic Anemia

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8Disease Ontology, 45Novoseek, 62UMLS, 40NCIt, 35MeSH, 58SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

macrocytic anemia 8
anemia macrocytic 8 45
macrocytic anaemia of unspecified cause 8
macrocytic anemia of unspecified cause 8
anemia, macrocytic 62


External Ids:

Disease Ontology8 DOID:2361
NCIt40 C34381
MeSH35 D000748

Related Diseases for Macrocytic Anemia

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1diamond-blackfan anemia 130.5RPS19
2pernicious anemia10.6
3thrombocytosis10.4
4tropical sprue10.4
5leukemia10.4
6acute erythroid leukemia10.4
7macrocytic anemia, refractory, due to 5q deletion, somatic10.4
8steatorrhea10.3
9acute leukemia10.3
10megaloblastic anemia10.3
11glossitis10.3
125q- syndrome10.3
13myelodysplastic syndromes10.3
14alcohol abuse10.1
15homocystinuria10.1
16linitis plastica10.1
17kwashiorkor10.1
18pancytopenia10.1
19anterior ischemic optic neuropathy10.1
20arthritis10.1
21bipolar disorder10.1
22dementia10.1
23gastritis10.1
24hepatitis10.1
25hypothyroidism10.1
26liver disease10.1
27microcytic anemia10.1
28multiple myeloma10.1
29myeloma10.1
30neuropathy10.1
31rheumatoid arthritis10.1
32thrombocytopenia10.1
33thymoma10.1
34shwachman-diamond syndrome10.1
35thiamine-responsive megaloblastic anemia syndrome10.1
3616q24.3 microdeletion syndrome10.1
37diamond-blackfan anemia 310.1
38diamond-blackfan anemia 710.1
39diamond-blackfan anemia 610.1
40diamond-blackfan anemia 810.1
41diamond-blackfan anemia 1210.1
42diamond-blackfan anemia 510.1
43diamond-blackfan anemia 910.1
44combined oxidative phosphorylation deficiency 1810.1
45diamond-blackfan anemia 410.1
46dyserythropoietic anemia, congenital, type ib10.1
47dyserythropoietic anemia, congenital, type ia10.1
48diamond-blackfan anemia 1110.1
49congenital porphyria10.1FECH, UROD
50hereditary coproporphyria10.1UROD, FECH

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



Diseases related to macrocytic anemia

Symptoms for Macrocytic Anemia

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Drugs & Therapeutics for Macrocytic Anemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Macrocytic Anemia

Search NIH Clinical Center for Macrocytic Anemia

Genetic Tests for Macrocytic Anemia

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Anatomical Context for Macrocytic Anemia

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33MalaCards
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MalaCards organs/tissues related to Macrocytic Anemia:

33
Liver, Small intestine, Bone, Bone marrow, Testes

Animal Models for Macrocytic Anemia or affiliated genes

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Publications for Macrocytic Anemia

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52PubMed
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Articles related to Macrocytic Anemia:

(show top 50)    (show all 126)
idTitleAuthorsYear
1
Intractable epilepsy as the presentation of vitamin B deficiency in the absence of macrocytic anemia. (16026570)
2005
2
Life-threatening maternal and fetal macrocytic anemia from antiretroviral therapy. (16260567)
2005
3
87-year-old man with macrocytic anemia. (11213309)
2001
4
Macrocytic anemia and thrombocytosis associated with thymoma: a case report. (10602167)
2000
5
Dose-related thrombocytopenia and macrocytic anemia associated with valproate use in bipolar disorder. (9108818)
1997
6
Macrocytic anemia. (8546042)
1996
7
Vitamin supplements improve the fertility potential of a subfertile male with macrocytic anemia--a case study. (7795372)
1994
8
A practical approach to the differential diagnosis and evaluation of the adult patient with macrocytic anemia. (1578958)
1992
9
Anterior ischemic optic neuropathy associated with macrocytic anemia. (2150841)
1990
10
Macrocytic anemia. (3821094)
1987
11
A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. (2873525)
1986
12
Gametic and pleiotropic defects in mouse fetuses with Hertwig's macrocytic anemia. (4018402)
1985
13
Macrocytic anemia, thrombocytosis and nonlobulated megakaryocytes: the 5q-syndrome, a distinct entity. (453227)
1979
14
Cytochemical study of granulopoietic tissue. 3. Megaloblastic and macrocytic anemia. (5020392)
1972
15
Vitamin E-responsive macrocytic anemia in protein-calorie malnutrition. Measurements of vitamin E, folic acid, vitamin C, vitamin B12 and iron. (5006442)
1966
16
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
17
VITAMIN E RESPONSIVE MACROCYTIC ANEMIA. (14064339)
1963
18
Diverticulosis of the jejunum with macrocytic anemia and steatorrhea. (14447714)
1961
19
Diverticulosis of the jejunum with macrocytic anemia and steatorrhea. (13736665)
1961
20
Macrocytic anemia in aged. II. Blood & bone marrow changes in 65 elderly anemia patients]. (13613532)
1958
21
PITTING edema associated with nutritional macrocytic anemia. (14371228)
1955
22
Absorption of radioactive vitamin B12 after total gastrectomy; relation to macrocytic anemia and to the site of origin of Castle's intrinsic factor. (13185389)
1954
23
Macrocytic anemia associated with intestinal strictures and anastomoses: report of two cases. (13139137)
1954
24
Hypochromic and macrocytic anemia due to Anguillula intestinalis infestation, simulating saturnine anemia]. (13134861)
1953
25
Experimental production of nutritional macrocytic anemia in swine. V. Hematologic manifestations of a combined deficiency of vitamin B12 and pteroylglutamic acid. (12977830)
1952
26
A case history presenting an interesting macrocytic anemia of unknown etiology. (12988144)
1952
27
A case of macrocytic anemia in a dog. (14905888)
1952
28
Macrocytic anemia and Sato's bromsulfalein test in children with nutritional dystrophy. (13038764)
1952
29
FOLIC acid deficiency in macrocytic anemia of pregnancy and infancy. (14907394)
1952
30
Experimental anemias in the rat; I. Macrocytic anemia in chronic pteroylglutamic acid deficiency and after splenectomy in Bartonella muris infection. (15414205)
1950
31
Macrocytic anemia and impaired liver function in eczematous and certain other dermatoses. (14782693)
1950
32
Hemolytic macrocytic anemia. (15406291)
1950
33
Experimental production of a nutritional macrocytic anemia in swine. (15410775)
1950
34
Observations on the macrocytic anemia associated with pregnancy. (18131962)
1949
35
Macrocytic anemia of pregnancy refractory to vitamin B12 therapy; response to treatment with folic acid; report of case. (18115522)
1949
36
Neurologic sequelae in macrocytic anemia of gastrointestinal origin following folic acid therapy. (18889324)
1948
37
Macrocytic anemia; report of a case one month postpartum. (18857036)
1948
38
The effect of liver extract and vitamin B12 on the mucous membrane lesions of macrocytic anemia. (18877051)
1948
39
Pernicious anemia, nutritional macrocytic anemia, and tropical sprue. (18920890)
1948
40
Macrocytic anemia of pregnancy; review of literature and report of a case treated with folic acid. (18105406)
1948
41
Macrocytic anemia. (18858389)
1948
42
Vitamin B12 in pernicious anemia and puerperal macrocytic anemia. (18890061)
1948
43
Effect of Cholinesterase-containing Globulin Fraction of Human Plasma in Macrocytic Anemia. (17791762)
1948
44
Metabolic function of pteroylglutamic acid and its hexaglutamyl conjugate; hematologic and urinary excretion studies on patients with macrocytic anemia. (20279937)
1947
45
The effect of folic acid on the blood picture in human macrocytic anemia. (21064560)
1946
46
FOLIC acid in macrocytic anemia. (21027185)
1946
47
Acute macrocytic anemia in the newborn, with special reference to its relation to erythroblastosis foetalis. (20254636)
1946
48
Further studies on folic acid in the treatment of macrocytic anemia. (21004150)
1945
49
SPONTANEOUS RECOVERY FROM NUTRITIONAL MACROCYTIC ANEMIA IN YOUNG SWINE FOLLOWING INITIAL ESTRUS. (16694844)
1941
50
COMPARISON OF HEMATOPOIESIS IN THE FETUS AND DURING RECOVERY FROM PERNICIOUS ANEMIA: TOGETHER WITH A CONSIDERATION OF THE RELATIONSHIP OF FETAL HEMATOPOIESIS TO MACROCYTIC ANEMIA OF PREGNANCY AND ANEMIA IN INFANTS. (16694355)
1935

Variations for Macrocytic Anemia

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Expression for genes affiliated with Macrocytic Anemia

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2BioGPS, 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

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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 57SinoBiological, 60Thomson Reuters
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Pathways related to Macrocytic Anemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tetrapyrrole biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
9.9UROD, FECH
2
Show member pathways
p53 pathway38
9.7RPL11, RPL5
3
Show member pathways
6.9RPS26, RPS7, RPS14, RPS19, RPS17, RPS10
4
Show member pathways
5.8RPL5, RPS14, RPS7, RPS26, RPS19, RPS17
5
Show member pathways
5.8RPL5, RPS14, RPS7, RPS26, RPS19, RPS17
6
Show member pathways
5.8RPL11, RPS26, RPS24, RPL35A, RPS10, RPS17
7
Show member pathways
Cytoplasmic Ribosomal Proteins38
5.8RPL35A, RPS10, RPS17, RPS19, RPL5, RPS14
85.6TCN2, RPS26, RPS7, RPS14, RPL5, RPS19

Compounds for genes affiliated with Macrocytic Anemia

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

(show all 13)
idCompoundScoreTop Affiliating Genes
1hydroxymethylbilane45 2411.2UROD, FECH
2protoporphyrinogen4510.1FECH, UROD
3uroporphyrinogen-iii4510.1FECH, UROD
4pyrrole4510.1UROD, FECH
5formyl-coa45 2411.1UROD, FECH
6porphyrin4510.0UROD, FECH
7porphobilinogen45 24 1112.0UROD, FECH
8vitamin b6459.9TCN2, FECH
9protoporphyrin ix45 24 1111.9FECH, UROD
10haem459.8UROD, FECH
115-aminolevulinic acid45 2410.6UROD, FECH
12iron45 2410.5SFXN4, FECH, UROD, CDAN1
13rrna459.2RPL11, RPS19, RPL5

GO Terms for genes affiliated with Macrocytic Anemia

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16Gene Ontology
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Cellular components related to Macrocytic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small ribosomal subunitGO:0159359.7RPS24, RPS26
2cytosolic large ribosomal subunitGO:0226259.2RPL5, RPL35A, RPL11
3ribosomeGO:0058408.3RPS7, RPS19, RPS17, RPS10
4extracellular vesicular exosomeGO:0700627.4RPL11, RPL35A, RPS19, RPL5, RPS14, RPS26
5cytosolic small ribosomal subunitGO:0226277.1RPS24, RPS26, RPS7, RPS14, RPS19, RPS17
6nucleolusGO:0057306.5RPS26, RPS7, RPS14, RPL5, RPS19, RPS10
7cytosolGO:0058295.7UROD, RPS26, RPS7, RPS14, RPL5, RPS19

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1iron ion homeostasisGO:0550729.9FECH, SFXN4
2porphyrin-containing compound metabolic processGO:0067789.8UROD, FECH
3erythrocyte homeostasisGO:0341019.7RPS17, RPS24
4heme biosynthetic processGO:0067839.6UROD, FECH
5ribosomal large subunit biogenesisGO:0422739.5RPL11, RPL35A, RPL5
6maturation of SSU-rRNAGO:0304909.2RPS19, RPS14
7maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:0004629.2RPS24, RPS19
8ribosomal small subunit assemblyGO:0000289.0RPS17, RPS19, RPS14
9erythrocyte differentiationGO:0302189.0FECH, RPS14, RPS19
10ribosomal small subunit biogenesisGO:0422748.4RPS7, RPS19, RPS17, RPS24
11rRNA processingGO:0063647.3RPS7, RPL5, RPS19, RPS17, RPL35A, RPS24
12SRP-dependent cotranslational protein targeting to membraneGO:0066146.2RPL11, RPS24, RPL35A, RPS10, RPS17, RPS19
13RNA metabolic processGO:0160706.2RPS17, RPS19, RPL5, RPS14, RPS7, RPS26
14mRNA metabolic processGO:0160716.2RPL11, RPS24, RPL35A, RPS10, RPS17, RPS19
15viral life cycleGO:0190586.2RPS26, RPS7, RPS14, RPL5, RPL11, RPS24
16viral transcriptionGO:0190836.2RPL11, RPS24, RPL35A, RPS10, RPS17, RPS19
17nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:0001846.1RPL11, RPS24, RPL35A, RPS10, RPS17, RPS19
18translationGO:0064126.1RPS17, RPS19, RPL5, RPS14, RPS7, RPS26
19translational initiationGO:0064136.1RPL11, RPS24, RPL35A, RPS10, RPS17, RPS19
20translational elongationGO:0064146.1RPS26, RPS7, RPS14, RPL11, RPS24, RPL35A
21translational terminationGO:0064156.1RPL11, RPS24, RPL35A, RPS10, RPS17, RPS19
22cellular protein metabolic processGO:0442676.1RPS24, RPL35A, RPS10, RPS17, RPS19, RPL5
23viral processGO:0160326.1RPS26, RPL11, RPS24, RPL35A, RPS10, RPS17
24gene expressionGO:0104676.1RPS26, RPS7, RPS14, RPL5, RPS19, RPS17

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

idNameGO IDScoreTop Affiliating Genes
1RNA bindingGO:0037238.6RPL11, RPL5, RPS14, RPS7
2structural constituent of ribosomeGO:0037356.2RPL11, RPS26, RPS7, RPS14, RPL5, RPS19
3poly(A) RNA bindingGO:0448225.5RPS26, RPS7, RPS14, RPL5, RPS19, RPS17

Products for genes affiliated with Macrocytic Anemia

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Sources for Macrocytic 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