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

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 56SNOMED-CT, 33MeSH, 27ICD9CM, 39NCIt, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Megaloblastic Anemia:

Name: Megaloblastic Anemia 8 10
Imerslund-Grasbeck Syndrome 8 42 21 44
Selective Cobalamin Malabsorption with Proteinuria 42 48
Defect of Enterocyte Intrinsic Factor Receptor 42 21
Enterocyte Cobalamin Malabsorption 42 21
Familial Megaloblastic Anemia 42 48
Gräsbeck-Imerslund Disease 42 48
Megaloblastic Anemia 1 42 21
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 42
Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12 21
 
Megaloblastic Anemia Due to Inborn Errors of Metabolism 61
Recessive Hereditary Megaloblastic Anemia 1 8
Imerslund-Gräsbeck Syndrome 21
Grasbeck-Imerslund Syndrome 8
Anemia, Megaloblastic 61
Anemia Megaloblastic 44
Mga1 Norwegian Type 8
Rh-Mga1 8
Igs 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
selective cobalamin malabsorption with proteinuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:13382
MeSH33 D000749
ICD9CM27 281
NCIt39 C34382
Orphanet48 35858
ICD10 via Orphanet26 D51.1

Summaries for Megaloblastic Anemia

About this section
NIH Rare Diseases:42 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 metoprine 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:8 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:64 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...

Related Diseases for Megaloblastic Anemia

About this section

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

About this section

Drugs & Therapeutics for Megaloblastic Anemia

About this section

Drug clinical trials:

Search ClinicalTrials for Megaloblastic Anemia

Search NIH Clinical Center for Megaloblastic Anemia

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Megaloblastic Anemia

About this section

Anatomical Context for Megaloblastic Anemia

About this section

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

About this section

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

About this section

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

About this section

Clinvar genetic disease variations for Megaloblastic Anemia:

5 (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

About this section
Search GEO for disease gene expression data for Megaloblastic Anemia.

Pathways for genes affiliated with Megaloblastic Anemia

About this section

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 metabolism59
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

About this section

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

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1pt 4304410.2SLC19A1, DHFR
2metoprine4410.2SLC19A1, DHFR
3ag 3314410.2SLC19A1, DHFR
4pt5234410.2DHFR, SLC19A1
5[3h]thiamine2810.2SLC19A3, SLC19A2
6cob(ii)alamin44 2411.2MTR, MTRR
7ag 3374410.2DHFR, SLC19A1
8Cob(I)alamin2410.2MTRR, MTR
9ag 20344410.1SLC19A1, DHFR
10hdmtx4410.1DHFR, SLC19A1
111843u894410.1SLC19A1, DHFR
12edatrexate4410.1SLC19A1, DHFR
13b vitamins4410.1MTRR, MTR
14zd93314410.1SLC19A1, DHFR
15trimetrexate44 1111.1DHFR, SLC19A1
16pteridine4410.0DHFR, SLC19A1
17tomudex4410.0DHFR, SLC19A1
18Tetrahydrofolic acid24 1111.0DHFR, MTR
19[3h]folic acid2810.0SLC19A1, SLC46A1
20[3h]methotrexate2810.0SLC46A1, SLC19A1
21L-Methionine24 1110.9MTRR, MTR
22pterin44 2410.9MTR, DHFR
2310-formyltetrahydrofolate449.9SLC19A1, MTR, DHFR
24tunicamycin44 6010.9CUBN, DHFR, SLC19A1
255-methyltetrahydrofolate44 1110.9MTRR, MTR, SLC19A1
26thiamine44 1 24 1112.8SLC19A2, SLC19A3, SLC19A1
27betaine44 2410.8MTRR, MTR
28flavin449.8MTRR, MTR
29dihydrofolate449.8DHFR, MTR, SLC19A1
30aminopterin44 1110.7SLC46A1, SLC19A1, DHFR
31purine44 2410.7DHFR, MTR, SLC19A1
32cystathionine449.7MTRR, MTR
33cobinamide44 2410.7MTR, TCN1
34corrinoid449.7TCN1, MTR
35s-adenosylmethionine44 24 1111.6MTR, SLC19A1, MTRR
36tetrahydrofolate449.6SLC19A1, MTRR, MTR, DHFR
37thymidylate449.6DHFR, MTRR, MTR, SLC19A1
38methylcobalamin44 2410.4MTR, MTRR, TCN1
39methylmalonic acid44 2410.4TCN1, MTR, MTRR
40sulfasalazine28 44 50 1112.3SLC19A1, SLC46A1
41folic acid50 24 1111.2SLC19A2, SLC19A1, SLC46A1, MTRR, DHFR
42folate449.1CUBN, SLC19A2, DHFR, MTRR, MTR, SLC19A1
43homocysteine44 2410.0MTR, TCN1, MTRR, SLC19A1
44methotrexate50 44 1110.8MTR, SLC46A1, SLC19A2, SLC19A1, DHFR, MTRR
45methionine448.8MTR, TCN1, CUBN, MTRR, SLC19A1
46cobalt44 249.4CUBN, GIF, MTR, TCN1, MMACHC
47hydroxocobalamin44 119.3MTR, MMACHC, CUBN, AMN, TCN1, MTRR
48cyanocobalamin50 24 1110.3MTRR, TCN1, AMN, CUBN, MMACHC, MTR
49vitamin b12448.1MTR, MTRR, TCN1, MMACHC, CUBN, GIF
50cobalamin44 248.6CD320, MTR, MTRR, TCN1, MMACHC, GIF

GO Terms for genes affiliated with Megaloblastic Anemia

About this section

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:00163249.1SLC46A1, GIF, CUBN, AMN
5plasma membraneGO:00058867.8AMN, CUBN, CD320, SLC19A3, SLC19A1, SLC19A2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein metabolic processGO:004215710.0AMN, CUBN
2thiamine transmembrane transportGO:00719349.9SLC19A2, SLC19A3
3thiamine-containing compound metabolic processGO:00427239.9SLC19A3, SLC19A2
4methylationGO:00322599.7MTR, MTRR
5sulfur amino acid metabolic processGO:00000969.5MTRR, MTR
6folic acid transportGO:00158849.5SLC19A1, SLC46A1, SLC19A2
7folic acid metabolic processGO:00466559.4SLC46A1, SLC19A1, MTRR
8cobalt ion transportGO:00068249.2TCN1, GIF
9cobalamin transportGO:00158898.9AMN, TCN1, GIF, CUBN
10cobalamin metabolic processGO:00092356.8LMBRD1, CUBN, GIF, MMACHC, TCN1, MTRR
11small molecule metabolic processGO:00442815.3AMN, SLC46A1, SLC19A2, LMBRD1, CUBN, GIF
12water-soluble vitamin metabolic processGO:00067675.3AMN, LMBRD1, CUBN, SLC19A2, GIF, MMACHC
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
1folic acid bindingGO:00055429.6SLC46A1, SLC19A1
2thiamine uptake transmembrane transporter activityGO:00154039.5SLC19A2, SLC19A3
3methotrexate transporter activityGO:00153509.5SLC46A1, SLC19A1
4folic acid transporter activityGO:00085179.3SLC19A1, SLC19A2, SLC46A1
5cobalamin bindingGO:00314197.2CD320, MTR, TCN1, MMACHC, GIF, CUBN

Sources for Megaloblastic Anemia

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet