MCID: MGL001
MIFTS: 65

Megaloblastic Anemia malady

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

Summaries for Megaloblastic Anemia

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NIH Rare Diseases:43 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 homocystinuria. 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, thyroid and testes, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:10 A macrocytic anemia that is characterized by inhibition of dna synthesis during red blood cell production.

Genetics Home Reference:23 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:65 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...

Aliases & Classifications for Megaloblastic Anemia

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Sources:
10Disease Ontology, 43NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 57SNOMED-CT, 35MeSH, 29ICD9CM, 40NCIt, 28ICD10 via Orphanet
See all sources

Megaloblastic Anemia, Aliases & Descriptions:

Name: Megaloblastic Anemia 10 12
Imerslund-Grasbeck Syndrome 10 43 23 45
Selective Cobalamin Malabsorption with Proteinuria 43 49
Defect of Enterocyte Intrinsic Factor Receptor 43 23
Enterocyte Cobalamin Malabsorption 43 23
Familial Megaloblastic Anemia 43 49
Gräsbeck-Imerslund Disease 43 49
Megaloblastic Anemia 1 43 23
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 43
Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12 23
 
Megaloblastic Anemia Due to Inborn Errors of Metabolism 62
Thyroid Hormone Plasma Membrane Transport Defect 62
Recessive Hereditary Megaloblastic Anemia 1 10
Imerslund-Gräsbeck Syndrome 23
Grasbeck-Imerslund Syndrome 10
Anemia, Megaloblastic 62
Anemia Megaloblastic 45
Mga1 Norwegian Type 10
Rh-Mga1 10
Igs 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
selective cobalamin malabsorption with proteinuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood


External Ids:

Disease Ontology10 DOID:13382
MeSH35 D000749
ICD9CM29 281
NCIt40 C34382
Orphanet49 35858
ICD10 via Orphanet28 D51.1

Related Diseases for Megaloblastic Anemia

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

(show top 50)    (show all 475)
idRelated DiseaseScoreTop Affiliating Genes
1thiamine-responsive megaloblastic anemia syndrome31.5SLC19A1, SLC19A2
2homocystinuria30.9MTRR, MTR, MMACHC
3vitamin b12 deficiency30.7MTR, TCN1, GIF, CUBN
4pernicious anemia30.7GIF, TCN1
5intrinsic factor deficiency30.4GIF
6folic acid deficiency anemia30.4MTR, DHFR, SLC19A1
7hyperhomocysteinemia30.2MTRR, SLC19A1, MTR
8deficiency anemia30.1SLC19A2, MTR, DHFR, TCN1, GIF
9hyper ige syndrome11.0
10asthma11.0
11dermatitis10.9
12atopic dermatitis10.9
13rhinitis10.7
14atopy10.7
15food allergy10.7
16allergic rhinitis10.7
17megaloblastic anemia due to dihydrofolate reductase deficiency10.6
18eosinophilia10.6
19homocystinuria-megaloblastic anemia, cbl e type10.6
20hyper-ige recurrent infection syndrome10.6
21aspergillosis10.5
22allergic asthma10.5
23allergic bronchopulmonary aspergillosis10.5
24urticaria10.5
25bullous pemphigoid10.5
26orotic aciduria10.5
27conjunctivitis10.5
28hyper-ige recurrent infection syndrome, autosomal recessive10.5
29homocystinuria-megaloblastic anemia, cblg complementation type10.5
30myeloma10.5
31scurvy10.4
32leukemia10.4
33thalassemia10.4
34pancytopenia10.4
35egg allergy10.4
36allergic conjunctivitis10.4
37methylmalonic aciduria and homocystinuria, cblf type10.4
38folate malabsorption, hereditary10.4
39megaloblastic anemia-1, finnish type10.4
40aphthous stomatitis10.4
41stomatitis10.4
42exercise induced anaphylaxis10.4
43methylmalonic aciduria and homocystinuria, cblc type10.3
44glutamate formiminotransferase deficiency10.3
45polycythemia10.3
46psoriasis10.3
47lubani al saleh teebi syndrome10.3
48rheumatoid arthritis10.3
49cystic fibrosis10.3
50hiv-110.3

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 UMLS62/NDF-RT41:

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:

33
Kidney, Thyroid, Testes, Bone marrow, Bone, Liver, Small intestine, Neutrophil, Heart, Breast, Myeloid, Spinal cord, T cells, B cells

Animal Models for Megaloblastic Anemia or affiliated genes

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MGI Mouse Phenotypes related to Megaloblastic Anemia:

37
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:

7 (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/GeneDecks:

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 Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
9.5MTR, MTRR, DHFR
5
Show member pathways
Vitamin B12 Metabolism38
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)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
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/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1pt 4304510.2DHFR, SLC19A1
2[3h]thiamine3010.2SLC19A3, SLC19A2
3cob(ii)alamin45 2611.2MTRR, MTR
4metoprine4510.2DHFR, SLC19A1
5Cob(I)alamin2610.2MTR, MTRR
6ag 3314510.2DHFR, SLC19A1
7ag 3374510.2DHFR, SLC19A1
8pt5234510.2DHFR, SLC19A1
9ag 20344510.1SLC19A1, DHFR
10hdmtx4510.1SLC19A1, DHFR
11edatrexate4510.1DHFR, SLC19A1
121843u894510.1DHFR, SLC19A1
13b vitamins4510.1MTRR, MTR
14trimetrexate45 1311.1DHFR, SLC19A1
15zd93314510.1DHFR, SLC19A1
16pteridine4510.0SLC19A1, DHFR
17Tetrahydrofolic acid26 1311.0DHFR, MTR
18tomudex4510.0DHFR, SLC19A1
19[3h]methotrexate3010.0SLC19A1, SLC46A1
20[3h]folic acid3010.0SLC19A1, SLC46A1
21L-Methionine26 1310.9MTRR, MTR
2210-formyltetrahydrofolate459.9DHFR, MTR, SLC19A1
23betaine45 2610.9MTRR, MTR
24tunicamycin45 6110.9SLC19A1, DHFR, CUBN
255-methyltetrahydrofolate45 1310.9SLC19A1, MTR, MTRR
26pterin45 2610.8DHFR, MTR
27thiamine45 3 26 1312.8SLC19A2, SLC19A1, SLC19A3
28flavin459.8MTR, MTRR
29dihydrofolate459.8DHFR, MTR, SLC19A1
30aminopterin45 1310.7DHFR, SLC19A1, SLC46A1
31purine45 2610.7DHFR, MTR, SLC19A1
32cystathionine459.7MTRR, MTR
33cobinamide45 2610.7MTR, TCN1
34corrinoid459.7MTR, TCN1
35s-adenosylmethionine45 26 1311.6MTRR, MTR, SLC19A1
36tetrahydrofolate459.6DHFR, MTRR, MTR, SLC19A1
37thymidylate459.6SLC19A1, MTR, MTRR, DHFR
38methylcobalamin45 2610.4TCN1, MTRR, MTR
39methylmalonic acid45 2610.4TCN1, MTRR, MTR
40sulfasalazine30 45 51 1312.3SLC46A1, SLC19A1
41folic acid51 26 1311.2DHFR, MTRR, SLC19A1, SLC19A2, SLC46A1
42folate459.1CUBN, DHFR, MTRR, MTR, SLC19A1, SLC19A2
43homocysteine45 2610.0TCN1, MTRR, MTR, SLC19A1
44methotrexate51 45 1310.8DHFR, MTRR, MTR, SLC19A1, SLC19A2, SLC46A1
45methionine458.8CUBN, TCN1, MTRR, MTR, SLC19A1
46cobalt45 269.4CUBN, GIF, MMACHC, TCN1, MTR
47hydroxocobalamin45 139.3CUBN, AMN, MMACHC, TCN1, MTR, MTRR
48cyanocobalamin51 26 1310.3MTR, MTRR, TCN1, MMACHC, CUBN, AMN
49vitamin b12458.1CUBN, GIF, MMACHC, TCN1, MTRR, MTR
50cobalamin45 268.6CD320, 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/GeneDecks:

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/GeneDecks:

(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/GeneDecks:

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

Products for genes affiliated with Megaloblastic Anemia

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Sources for Megaloblastic Anemia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet