MCID: MGL001
MIFTS: 56

Megaloblastic Anemia malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Nephrological diseases, Metabolic diseases, Blood diseases categories

Aliases & Classifications for Megaloblastic Anemia

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 9Disease Ontology, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 27ICD9CM, 38NCIt, 26ICD10 via Orphanet
See all sources

Megaloblastic Anemia, Aliases & Descriptions:

Name: Megaloblastic Anemia 9 11
Imerslund-Grasbeck Syndrome 9 41 21 43
Selective Cobalamin Malabsorption with Proteinuria 41 47
Defect of Enterocyte Intrinsic Factor Receptor 41 21
Enterocyte Cobalamin Malabsorption 41 21
Familial Megaloblastic Anemia 41 47
Gräsbeck-Imerslund Disease 41 47
Megaloblastic Anemia 1 41 21
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 41
Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12 21
 
Megaloblastic Anemia Due to Inborn Errors of Metabolism 60
Recessive Hereditary Megaloblastic Anemia 1 9
Imerslund-Gräsbeck Syndrome 21
Grasbeck-Imerslund Syndrome 9
Anemia, Megaloblastic 60
Anemia Megaloblastic 43
Mga1 Norwegian Type 9
Rh-Mga1 9
Igs 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
selective cobalamin malabsorption with proteinuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:13382
MeSH33 D000749
ICD9CM27 281
NCIt38 C34382
Orphanet47 35858
ICD10 via Orphanet26 D51.1

Summaries for Megaloblastic Anemia

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NIH Rare Diseases:41 Imerslund-grasbeck syndrome (igs) is a rare condition characterized by vitamin b12 deficiency, often causing megaloblastic anemia. igs usually appears in childhood. other features may include failure to thrive, infections, and neurological damage. mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. igs is caused by mutations in either the cubn or amn gene and is inherited in an autosomal recessive manner. treatment includes life-long vitamin b12 injections, with which affected individuals can stay healthy for decades. last updated: 1/6/2014

MalaCards based summary: Megaloblastic Anemia, also known as imerslund-grasbeck syndrome, is related to thiamine-responsive megaloblastic anemia syndrome and intrinsic factor deficiency. An important gene associated with Megaloblastic Anemia is AMN (amnion associated transmembrane protein), and among its related pathways are Lipoprotein metabolism and Sulfur amino acid metabolism. The drugs folic acid and leucovorin and the compounds pt 430 and [3h]thiamine have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone marrow, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:9 A macrocytic anemia that is characterized by inhibition of dna synthesis during red blood cell production.

Genetics Home Reference:21 Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. About half of people with Imerslund-Gräsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Gräsbeck syndrome appear to have normal kidney function.

Wikipedia:63 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...

Related Diseases for Megaloblastic Anemia

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Diseases related to Megaloblastic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 479)
idRelated DiseaseScoreTop Affiliating Genes
1thiamine-responsive megaloblastic anemia syndrome31.9SLC19A1, SLC19A2
2intrinsic factor deficiency31.0GIF
3homocystinuria31.0MTRR, MTR, MMACHC
4pernicious anemia30.6GIF, TCN1
5folic acid deficiency anemia30.6MTR, DHFR, SLC19A1
6vitamin b12 deficiency30.4MTR, TCN1, GIF, CUBN
7hyperhomocysteinemia30.2MTRR, SLC19A1, MTR
8neural tube defects29.8MTR, SLC19A1, MTRR
9colorectal cancer29.7SLC19A1, MTR, DHFR, MTRR
10deficiency anemia29.6SLC19A2, MTR, DHFR, TCN1, GIF
11hyper ige syndrome11.0
12asthma11.0
13dermatitis10.9
14atopic dermatitis10.9
15rhinitis10.7
16atopy10.7
17food allergy10.7
18allergic rhinitis10.7
19megaloblastic anemia due to dihydrofolate reductase deficiency10.6
20homocystinuria-megaloblastic anemia, cbl e type10.6
21eosinophilia10.6
22hyper-ige recurrent infection syndrome10.6
23aspergillosis10.5
24allergic asthma10.5
25allergic bronchopulmonary aspergillosis10.5
26urticaria10.5
27bullous pemphigoid10.5
28homocystinuria-megaloblastic anemia, cblg complementation type10.5
29orotic aciduria10.5
30conjunctivitis10.5
31hyper-ige recurrent infection syndrome, autosomal recessive10.5
32myeloma10.5
33scurvy10.4
34megaloblastic anemia-1, finnish type10.4
35leukemia10.4
36thalassemia10.4
37pancytopenia10.4
38egg allergy10.4
39allergic conjunctivitis10.4
40homocysteinemia10.4MTR
41methylmalonic aciduria and homocystinuria, cblf type10.4
42folate malabsorption, hereditary10.4
43aphthous stomatitis10.4
44stomatitis10.4
45exercise induced anaphylaxis10.4
46hiv-110.3
47methylmalonic aciduria and homocystinuria, cblc type10.3
48glutamate formiminotransferase deficiency10.3
49polycythemia10.3
50psoriasis10.3

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



Diseases related to megaloblastic anemia

Symptoms for Megaloblastic Anemia

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Drugs & Therapeutics for Megaloblastic Anemia

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Drug clinical trials:

Search ClinicalTrials for Megaloblastic Anemia

Search NIH Clinical Center for Megaloblastic Anemia

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Megaloblastic Anemia

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Anatomical Context for Megaloblastic Anemia

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MalaCards organs/tissues related to Megaloblastic Anemia:

31
Kidney, Testes, Bone marrow, Bone, Liver, Small intestine, Neutrophil, Heart, Breast, Myeloid, Spinal cord, Thyroid, T cells, B cells

Animal Models for Megaloblastic Anemia or affiliated genes

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MGI Mouse Phenotypes related to Megaloblastic Anemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.5SLC46A1, SLC19A2, SLC19A1, SLC19A3, CD320, MTR

Publications for Megaloblastic Anemia

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Articles related to Megaloblastic Anemia:

(show top 50)    (show all 418)
idTitleAuthorsYear
1
Laboratory testing for cobalamin deficiency in megaloblastic anemia. (23423840)
2013
2
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. (23289844)
2013
3
Chronic myelogenous leukemia accompanied by megaloblastic anemia showing atypical clinical features. (22185800)
2011
4
Megaloblastic anemia--a rare cause. (21630071)
2011
5
B12 deficient megaloblastic anemia in a toddler with a history of gastroschisis. (20961567)
2011
6
Megaloblastic anemia: back in focus. (20589460)
2010
7
A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children]. (18050048)
2007
8
Folic acid deficiency: main etiological factor of megaloblastic anemia in Kazakhstan? (16680755)
2006
9
Megaloblastic anemia and other causes of macrocytosis. (16988104)
2006
10
Megaloblastic anemia -- Part I. (15226581)
2004
11
Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA). (12893755)
2003
12
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. (12590260)
2003
13
Hypocellular myelodysplastic syndrome presenting as megaloblastic anemia. (12476862)
2002
14
Apoptosis in megaloblastic anemia occurs during DNA synthesis by a p53-independent, nucleoside-reversible mechanism. (11050010)
2000
15
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. (10887099)
2000
16
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. (10074490)
1999
17
Case of the season. Megaloblastic anemia with subacute combined degeneration (SCD) of the spinal cord. (9988857)
1999
18
Clinico-hematological profile of megaloblastic anemia. (9707906)
1998
19
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. (9856490)
1998
20
Thiamine-Responsive Megaloblastic Anemia Syndrome (20301459)
1993
21
A syndrome of megaloblastic anemia, immunodeficiency, and excessive nucleotide degradation. (1781393)
1991
22
Megaloblastic anemia caused by a congenital deficiency of transcobalamin II]. (2333586)
1990
23
Masked phenytoin-induced megaloblastic anemia in beta-thalassemia minor. (3113162)
1987
24
The direct antiglobulin test in megaloblastic anemia. (3727016)
1986
25
Selective malabsorption of vitamin B12 and vitamin B12-intrinsic factor with megaloblastic anemia in an adult. (4057272)
1985
26
Possible role of methotrexate in trimethoprim-sulfamethoxazole-induced acute megaloblastic anemia. (6724876)
1984
27
Masked megaloblastic anemia. (7138159)
1982
28
Characteristic abnormality of deoxyribonucleoside triphosphate metabolism in megaloblastic anemia. (7115960)
1982
29
Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II. (7421948)
1980
30
Trichobezoar--an unusual cause of megaloblastic anemia and hypoproteinemia in childhood. (4682019)
1973
31
Megaloblastic anemia after anticonvulsive therapy. (4627864)
1972
32
A case of megaloblastic anemia in the gibbon (Hylobates foolock). (5316973)
1971
33
Polycythemia following folic acid and vitamin B12 treatment of anticonvulsant-induced megaloblastic anemia. (5472894)
1970
34
Infants of mothers with megaloblastic anemia due to folate deficiency. (5467155)
1970
35
Gastrointestinal causes of megaloblastic anemia. (5671394)
1968
36
Megaloblastic anemia associated with parenchymal hemosiderosis. (5231720)
1967
37
Megaloblastic anemia of pregnancy. (5955950)
1966
38
Megaloblastic anemia. (5912534)
1966
39
Megaloblastic anemia in an adult vegan. (5920497)
1966
40
Human bone marrow chromosomes in megaloblastic anemia. (5844150)
1965
41
Current concepts in therapy. Megaloblastic anemia. (13953900)
1963
42
THE EFFECT OF SMALL DOSES OF FOLIC ACID IN NUTRITIONAL MEGALOBLASTIC ANEMIA. (14101398)
1963
43
Megaloblastic anemia complicating thalassemia major. (13974461)
1963
44
Megaloblastic anemia; an important clue to precise diagnosis. (13922211)
1962
45
Erythrokinetics in the megaloblastic anemia of tropical sprue. (14445727)
1960
46
Megaloblastic anemia associated with diverticula of the small bowel. (13469835)
1957
47
Megaloblastic anemia of pregnancy. (13407781)
1957
48
Megaloblastic anemia of pregnancy. (13124414)
1954
49
Clinical studies with the citrovorum factor in megaloblastic anemia. (13171390)
1954
50
Megaloblastic anemia in infancy. (18899739)
1948

Variations for Megaloblastic Anemia

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Clinvar genetic disease variations for Megaloblastic Anemia:

6 (show all 50)
id Gene Variation Type Significance SNP ID Assembly Location
1AMNAMN, IVS3, A-G, -2single nucleotide variantPathogenic
2CUBNNM_001081.3(CUBN): c.1230+1G> Asingle nucleotide variantLikely pathogenicrs386833766GRCh37Chr 10, 17147455: 17147455
3CUBNNM_001081.3(CUBN): c.1436C> G (p.Ser479Ter)single nucleotide variantLikely pathogenicrs386833767GRCh37Chr 10, 17145218: 17145218
4CUBNNM_001081.3(CUBN): c.1526delG (p.Gly509Glufs)deletionLikely pathogenicrs386833768GRCh37Chr 10, 17145128: 17145128
5CUBNNM_001081.3(CUBN): c.1530G> A (p.Lys510=)single nucleotide variantLikely pathogenicrs386833769GRCh37Chr 10, 17145124: 17145124
6CUBNNM_001081.3(CUBN): c.1838delG (p.Gly613Glufs)deletionLikely pathogenicrs386833770GRCh37Chr 10, 17130272: 17130272
7CUBNNM_001081.3(CUBN): c.1865delC (p.Thr622Ilefs)deletionLikely pathogenicrs386833771GRCh37Chr 10, 17130245: 17130245
8CUBNNM_001081.3(CUBN): c.1951C> T (p.Arg651Ter)single nucleotide variantLikely pathogenicrs182512508GRCh37Chr 10, 17127755: 17127755
9CUBNNM_001081.3(CUBN): c.2068A> G (p.Ile690Val)single nucleotide variantLikely pathogenicrs386833772GRCh37Chr 10, 17127638: 17127638
10CUBNNM_001081.3(CUBN): c.2486C> T (p.Ser829Leu)single nucleotide variantLikely pathogenicrs386833773GRCh37Chr 10, 17113564: 17113564
11CUBNNM_001081.3(CUBN): c.250C> T (p.Gln84Ter)single nucleotide variantLikely pathogenicrs386833774GRCh37Chr 10, 17171122: 17171122
12CUBNNM_001081.3(CUBN): c.2515_2533del19 (p.Glu839Profs)deletionLikely pathogenicrs386833775GRCh37Chr 10, 17113517: 17113535
13CUBNNM_001081.3(CUBN): c.252+1G> Asingle nucleotide variantLikely pathogenicrs386833776GRCh37Chr 10, 17171119: 17171119
14CUBNNM_001081.3(CUBN): c.2614_2615delGA (p.Asp872Leufs)deletionLikely pathogenicrs386833777GRCh37Chr 10, 17113435: 17113436
15CUBNNM_001081.3(CUBN): c.2673C> A (p.Cys891Ter)single nucleotide variantLikely pathogenicrs386833778GRCh37Chr 10, 17110722: 17110722
16CUBNNM_001081.3(CUBN): c.2949C> A (p.Tyr983Ter)single nucleotide variantLikely pathogenicrs386833779GRCh37Chr 10, 17110122: 17110122
17CUBNNM_001081.3(CUBN): c.3056C> G (p.Ser1019Ter)single nucleotide variantLikely pathogenicrs386833780GRCh37Chr 10, 17107590: 17107590
18CUBNNM_001081.3(CUBN): c.3096delT (p.Tyr1032Terfs)deletionLikely pathogenicrs386833781GRCh37Chr 10, 17107550: 17107550
19CUBNNM_001081.3(CUBN): c.3577T> G (p.Trp1193Gly)single nucleotide variantLikely pathogenicrs386833783GRCh37Chr 10, 17087101: 17087101
20CUBNNM_001081.3(CUBN): c.3749C> T (p.Ser1250Phe)single nucleotide variantLikely pathogenicrs386833784GRCh37Chr 10, 17085906: 17085906
21CUBNNM_001081.3(CUBN): c.3999C> A (p.Cys1333Ter)single nucleotide variantLikely pathogenicrs386833785GRCh37Chr 10, 17083050: 17083050
22CUBNNM_001081.3(CUBN): c.4115C> G (p.Thr1372Arg)single nucleotide variantLikely pathogenicrs386833786GRCh37Chr 10, 17061885: 17061885
23CUBNNM_001081.3(CUBN): c.4168G> A (p.Gly1390Ser)single nucleotide variantLikely pathogenicrs386833787GRCh37Chr 10, 17061832: 17061832
24CUBNNM_001081.3(CUBN): c.434G> A (p.Gly145Glu)single nucleotide variantLikely pathogenicrs386833788GRCh37Chr 10, 17165642: 17165642
25CUBNNM_001081.3(CUBN): c.489G> A (p.Lys163=)single nucleotide variantLikely pathogenicrs386833789GRCh37Chr 10, 17165587: 17165587
26CUBNNM_001081.3(CUBN): c.673T> A (p.Cys225Ser)single nucleotide variantLikely pathogenicrs386833790GRCh37Chr 10, 17157517: 17157517
27CUBNNM_001081.3(CUBN): c.889C> T (p.Gln297Ter)single nucleotide variantLikely pathogenicrs386833791GRCh37Chr 10, 17153044: 17153044
28AMNNM_030943.3(AMN): c.1006+16_1006+30deldeletionLikely pathogenicrs386834160GRCh37Chr 14, 103396439: 103396453
29AMNNM_030943.3(AMN): c.1006+34_1006+48deldeletionLikely pathogenicrs386834161GRCh37Chr 14, 103396457: 103396471
30AMNNM_030943.3(AMN): c.1006+36_1006+50deldeletionLikely pathogenicrs386834162GRCh37Chr 14, 103396459: 103396473
31AMNNM_030943.3(AMN): c.1014_1021delCCTCGGCG (p.Leu339Profs)deletionLikely pathogenicrs386834163GRCh37Chr 14, 103396509: 103396516
32AMNNM_030943.3(AMN): c.1170-6C> Tsingle nucleotide variantLikely pathogenicrs386834164GRCh37Chr 14, 103396737: 103396737
33AMNNM_030943.3(AMN): c.1253dupA (p.Leu419Alafs)duplicationLikely pathogenicrs386834165GRCh37Chr 14, 103396826: 103396827
34AMNNM_030943.3(AMN): c.1257+10C> Tsingle nucleotide variantLikely pathogenicrs386834166GRCh37Chr 14, 103396840: 103396840
35AMNNM_030943.3(AMN): c.1314_1315delCA (p.His438Glnfs)deletionLikely pathogenicrs386834167GRCh37Chr 14, 103396969: 103396970
36AMNNM_030943.3(AMN): c.14delG (p.Gly5Alafs)deletionLikely pathogenicrs386834168GRCh37Chr 14, 103389039: 103389039
37AMNNM_030943.3(AMN): c.208-1G> Csingle nucleotide variantLikely pathogenicrs386834169GRCh37Chr 14, 103394762: 103394762
38AMNNM_030943.3(AMN): c.208-2A> Gsingle nucleotide variantLikely pathogenicrs386834170GRCh37Chr 14, 103394761: 103394761
39AMNNM_030943.3(AMN): c.295delG (p.Gly99Alafs)deletionLikely pathogenicrs386834171GRCh37Chr 14, 103394850: 103394850
40AMNNM_030943.3(AMN): c.43+1G> Tsingle nucleotide variantLikely pathogenicrs386834172GRCh37Chr 14, 103389069: 103389069
41AMNNM_030943.3(AMN): c.468dupT (p.Gly157Trpfs)duplicationLikely pathogenicrs386834173GRCh37Chr 14, 103395267: 103395268
42AMNNM_030943.3(AMN): c.514-34G> Asingle nucleotide variantLikely pathogenicrs144077391GRCh37Chr 14, 103395424: 103395424
43AMNNM_030943.3(AMN): c.663G> A (p.Trp221Ter)single nucleotide variantLikely pathogenicrs386834174GRCh37Chr 14, 103395776: 103395776
44AMNNM_030943.3(AMN): c.683_730del48 (p.Gln228_Leu243del)deletionLikely pathogenicrs386834175GRCh37Chr 14, 103395796: 103395843
45AMNNM_030943.3(AMN): c.701G> T (p.Cys234Phe)single nucleotide variantLikely pathogenicrs386834176GRCh37Chr 14, 103395814: 103395814
46AMNNM_030943.3(AMN): c.742C> T (p.Gln248Ter)single nucleotide variantLikely pathogenicrs386834177GRCh37Chr 14, 103395855: 103395855
47AMNNM_030943.3(AMN): c.761G> A (p.Gly254Glu)single nucleotide variantLikely pathogenicrs386834178GRCh37Chr 14, 103395992: 103395992
48AMNNM_030943.3(AMN): c.974_977dupCCCG (p.Ala327Profs)duplicationLikely pathogenicrs386834179GRCh37Chr 14, 103396391: 103396394
49CUBNNM_001081.3(CUBN): c.3330-439C> Gsingle nucleotide variantLikely pathogenicrs386833782GRCh37Chr 10, 17088532: 17088532
50CUBNNM_001081.3(CUBN): c.3890C> T (p.Pro1297Leu)single nucleotide variantLikely pathogenic, Pathogenicrs121434430GRCh37Chr 10, 17083159: 17083159

Expression for genes affiliated with Megaloblastic Anemia

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Search GEO for disease gene expression data for Megaloblastic Anemia.

Pathways for genes affiliated with Megaloblastic Anemia

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Pathways related to Megaloblastic Anemia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0CUBN, AMN
2
Show member pathways
9.8MTR, MTRR
3
Show member pathways
9.6SLC19A1, SLC46A1
4
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism58
9.5MTR, MTRR, DHFR
5
Show member pathways
Vitamin B12 Metabolism36
8.9GIF, TCN1, MTRR
67.3SLC19A1, SLC19A2, SLC46A1, SLC19A3, MMACHC, GIF
74.7LMBRD1, CUBN, GIF, MMACHC, TCN1, DHFR
8
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
4.7SLC46A1, MTRR, DHFR, TCN1, AMN, LMBRD1
9
Show member pathways
4.7AMN, SLC46A1, LMBRD1, CUBN, GIF, MMACHC

Compounds for genes affiliated with Megaloblastic Anemia

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Compounds related to Megaloblastic Anemia according to GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1pt 4304310.2DHFR, SLC19A1
2[3h]thiamine2810.2SLC19A3, SLC19A2
3cob(ii)alamin43 2411.2MTRR, MTR
4metoprine4310.2DHFR, SLC19A1
5Cob(I)alamin2410.2MTR, MTRR
6ag 3314310.2DHFR, SLC19A1
7ag 3374310.2DHFR, SLC19A1
8pt5234310.2DHFR, SLC19A1
9ag 20344310.1SLC19A1, DHFR
10hdmtx4310.1SLC19A1, DHFR
11edatrexate4310.1DHFR, SLC19A1
121843u894310.1DHFR, SLC19A1
13b vitamins4310.1MTRR, MTR
14trimetrexate43 1211.1DHFR, SLC19A1
15zd93314310.1DHFR, SLC19A1
16pteridine4310.0SLC19A1, DHFR
17Tetrahydrofolic acid24 1211.0DHFR, MTR
18tomudex4310.0DHFR, SLC19A1
19[3h]methotrexate2810.0SLC19A1, SLC46A1
20[3h]folic acid2810.0SLC19A1, SLC46A1
21L-Methionine24 1210.9MTRR, MTR
2210-formyltetrahydrofolate439.9DHFR, MTR, SLC19A1
23betaine43 2410.9MTRR, MTR
24tunicamycin43 5910.9SLC19A1, DHFR, CUBN
255-methyltetrahydrofolate43 1210.9SLC19A1, MTR, MTRR
26pterin43 2410.8DHFR, MTR
27thiamine43 2 24 1212.8SLC19A2, SLC19A1, SLC19A3
28flavin439.8MTR, MTRR
29dihydrofolate439.8DHFR, MTR, SLC19A1
30aminopterin43 1210.7DHFR, SLC19A1, SLC46A1
31purine43 2410.7DHFR, MTR, SLC19A1
32cystathionine439.7MTRR, MTR
33cobinamide43 2410.7MTR, TCN1
34corrinoid439.7MTR, TCN1
35s-adenosylmethionine43 24 1211.6MTRR, MTR, SLC19A1
36tetrahydrofolate439.6DHFR, MTRR, MTR, SLC19A1
37thymidylate439.6SLC19A1, MTR, MTRR, DHFR
38methylcobalamin43 2410.4TCN1, MTRR, MTR
39methylmalonic acid43 2410.4TCN1, MTRR, MTR
40sulfasalazine28 43 49 1212.3SLC46A1, SLC19A1
41folic acid49 24 1211.2DHFR, MTRR, SLC19A1, SLC19A2, SLC46A1
42folate439.1CUBN, DHFR, MTRR, MTR, SLC19A1, SLC19A2
43homocysteine43 2410.0TCN1, MTRR, MTR, SLC19A1
44methotrexate49 43 1210.8DHFR, MTRR, MTR, SLC19A1, SLC19A2, SLC46A1
45methionine438.8CUBN, TCN1, MTRR, MTR, SLC19A1
46cobalt43 249.4CUBN, GIF, MMACHC, TCN1, MTR
47hydroxocobalamin43 129.3CUBN, AMN, MMACHC, TCN1, MTR, MTRR
48cyanocobalamin49 24 1210.3MTR, MTRR, TCN1, MMACHC, CUBN, AMN
49vitamin b12438.1CUBN, GIF, MMACHC, TCN1, MTRR, MTR
50cobalamin43 248.6CD320, MTR, MTRR, TCN1, MMACHC, GIF

GO Terms for genes affiliated with Megaloblastic Anemia

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Cellular components related to Megaloblastic Anemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicleGO:003013910.0CUBN, AMN
2endosome membraneGO:00100089.5AMN, CUBN, CD320
3brush border membraneGO:00315269.4SLC46A1, CUBN
4apical plasma membraneGO:00163249.1AMN, CUBN, GIF, SLC46A1
5plasma membraneGO:00058867.8SLC46A1, AMN, SLC19A2, SLC19A1, SLC19A3, CD320

Biological processes related to Megaloblastic Anemia according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein metabolic processGO:004215710.0CUBN, AMN
2thiamine transmembrane transportGO:00719349.9SLC19A2, SLC19A3
3thiamine-containing compound metabolic processGO:00427239.9SLC19A2, SLC19A3
4methylationGO:00322599.7MTR, MTRR
5sulfur amino acid metabolic processGO:00000969.5MTR, MTRR
6folic acid transportGO:00158849.5SLC19A1, SLC19A2, SLC46A1
7folic acid metabolic processGO:00466559.4SLC46A1, SLC19A1, MTRR
8cobalt ion transportGO:00068249.2GIF, TCN1
9cobalamin transportGO:00158898.9AMN, CUBN, GIF, TCN1
10cobalamin metabolic processGO:00092356.9AMN, LMBRD1, CUBN, GIF, MMACHC, TCN1
11small molecule metabolic processGO:00442815.3MMACHC, TCN1, MTRR, MTR, CD320, SLC19A3
12water-soluble vitamin metabolic processGO:00067675.3AMN, LMBRD1, CUBN, GIF, MMACHC, TCN1
13vitamin metabolic processGO:00067665.2SLC46A1, CUBN, GIF, MMACHC, TCN1, MTRR

Molecular functions related to Megaloblastic Anemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1thiamine uptake transmembrane transporter activityGO:00154039.7SLC19A3, SLC19A2
2folic acid bindingGO:00055429.6SLC19A1, SLC46A1
3folic acid transporter activityGO:00085179.3SLC19A1, SLC19A2, SLC46A1
4methotrexate transporter activityGO:00153509.3SLC19A1, SLC46A1
5cobalamin bindingGO:00314197.2LMBRD1, MTR, TCN1, MMACHC, GIF, CUBN

Products for genes affiliated with Megaloblastic Anemia

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Sources for Megaloblastic Anemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet