MCID: MGL001
MIFTS: 57

Megaloblastic Anemia malady

Blood diseases category

Summaries for Megaloblastic Anemia

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9Disease Ontology, 66Wikipedia, 48OMIM, 34MalaCards
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Disease Ontology:9 A macrocytic anemia that is characterized by inhibition of dna synthesis during red blood cell production.

MalaCards: Megaloblastic Anemia, also known as anemia megaloblastic, is related to thiamine-responsive megaloblastic anemia syndrome and homocystinuria. An important gene associated with Megaloblastic Anemia is SLC19A2 (solute carrier family 19 (thiamine transporter), member 2), 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 ag 337 have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and testes, and related mouse phenotypes are mortality/aging and homeostasis/metabolism.

Wikipedia:66 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...

Description from OMIM:48 261100

Aliases & Classifications for Megaloblastic Anemia

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 48OMIM
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Classifications:

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


Aliases & Descriptions:

megaloblastic anemia 9 11
anemia megaloblastic 9 46
megaloblastic anemia due to inborn errors of metabolism 63
recessive hereditary megaloblastic anemia 1 9
3-@methylglutaconic aciduria, type i 63
anaemia - megaloblastic 9
anemia, megaloblastic 63
mga1 norwegian type 9
rh-mga1 9


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Disease Ontology9 DOID:13382
NCIt41 C34382
MeSH36 D000749
OMIM48 261100

Related Diseases for Megaloblastic Anemia

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Megaloblastic Anemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1thiamine-responsive megaloblastic anemia syndrome31.4SLC19A1, SLC19A2
2homocystinuria31.0MTR, MTRR
3imerslund-grasbeck syndrome30.9CUBN
4vitamin b12 deficiency30.8CUBN, GIF, MTR
5folic acid deficiency anemia30.3SLC19A1, MTR, DHFR
6intrinsic factor deficiency30.2GIF
7hyperhomocysteinemia30.1MTRR, MTR, SLC19A1
8deficiency anemia30.1SLC19A2, MTR, DHFR, GIF
9megaloblastic anemia due to dihydrofolate reductase deficiency10.6
10pernicious anemia10.5
11scurvy10.4
12pancytopenia10.4
13leukemia10.4
14thalassemia10.4
15homocystinuria-megaloblastic anemia, cbl e type10.4
16diabetes mellitus10.4
17lubani al saleh teebi syndrome10.4
18homocystinuria-megaloblastic anemia, cblg complementation type10.4
19homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type10.3
20orotic aciduria10.3
21methylmalonic aciduria and homocystinuria type cblf10.3
22polycythemia10.3
23psoriasis10.3
24megaloblastic anemia-1, finnish type10.3
25homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type10.2
26ischemic retinopathy10.2
27polycythemia vera10.2
28atrophic gastritis10.2
29transcobalamin ii deficiency10.2
30tropical sprue10.2
31acute leukemia10.2
32kwashiorkor10.2
33cerebritis10.2
34cone-rod dystrophy10.2
35gastritis10.2
36malaria10.2
37proteinuria10.2
38retinitis10.2
39hereditary folate malabsorption10.2
40cerebral folate deficiency10.2
41glutamate formiminotransferase deficiency10.2
42myelodysplastic syndromes10.2
43homocysteinemia10.1MTR
44hyperuricemia10.1
45diabetic ketoacidosis10.1
46meckel's diverticulum10.1
47alpha thalassemia10.1
48hereditary spherocytosis10.1
49hemochromatosis10.1
50granulomatous gastritis10.1

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



Diseases related to megaloblastic anemia

Symptoms for Megaloblastic Anemia

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48OMIM
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Clinical features from OMIM:

261100

Drugs & Therapeutics for Megaloblastic Anemia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Megaloblastic Anemia

Drug clinical trials:

Search ClinicalTrials for Megaloblastic Anemia

Search NIH Clinical Center for Megaloblastic Anemia

Search CenterWatch for Megaloblastic Anemia

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Megaloblastic Anemia

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Anatomical Context for Megaloblastic Anemia

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34MalaCards
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MalaCards organs/tissues related to Megaloblastic Anemia:

34
Bone marrow, Bone, Testes, Liver, Small intestine, Heart, Breast, Myeloid, Spinal cord, Thyroid, T cells

Animal Models for Megaloblastic Anemia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Megaloblastic Anemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.5AMN, CUBN, MTR, SLC19A3, SLC19A1, SLC19A2
2MP:00053767.1CUBN, MTRR, MTR, SLC19A3, SLC19A1, SLC19A2

Publications for Megaloblastic Anemia

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53PubMed
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Articles related to Megaloblastic Anemia:

(show top 50)    (show all 411)
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
Megaloblastic anemia caused by a congenital deficiency of transcobalamin II]. (2333586)
1990
22
Masked phenytoin-induced megaloblastic anemia in beta-thalassemia minor. (3113162)
1987
23
Selective malabsorption of vitamin B12 and vitamin B12-intrinsic factor with megaloblastic anemia in an adult. (4057272)
1985
24
Possible role of methotrexate in trimethoprim-sulfamethoxazole-induced acute megaloblastic anemia. (6724876)
1984
25
Masked megaloblastic anemia. (7138159)
1982
26
Characteristic abnormality of deoxyribonucleoside triphosphate metabolism in megaloblastic anemia. (7115960)
1982
27
Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II. (7421948)
1980
28
Trichobezoar--an unusual cause of megaloblastic anemia and hypoproteinemia in childhood. (4682019)
1973
29
Megaloblastic anemia after anticonvulsive therapy. (4627864)
1972
30
A case of megaloblastic anemia in the gibbon (Hylobates foolock). (5316973)
1971
31
Granulomatous gastritis associated with megaloblastic anemia. Probable tuberculous etiology. (5284709)
1971
32
Polycythemia following folic acid and vitamin B12 treatment of anticonvulsant-induced megaloblastic anemia. (5472894)
1970
33
Infants of mothers with megaloblastic anemia due to folate deficiency. (5467155)
1970
34
Gastrointestinal causes of megaloblastic anemia. (5671394)
1968
35
Megaloblastic anemia associated with parenchymal hemosiderosis. (5231720)
1967
36
Megaloblastic anemia of pregnancy. (5955950)
1966
37
Megaloblastic anemia. (5912534)
1966
38
Megaloblastic anemia in an adult vegan. (5920497)
1966
39
Human bone marrow chromosomes in megaloblastic anemia. (5844150)
1965
40
FOLACIN AND MEGALOBLASTIC ANEMIA. (14107341)
1964
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Megaloblastic Anemia:

1
id Gene Name Type Significance SNP ID Assembly Location
1CUBNNM_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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Megaloblastic Anemia

Search GEO for disease gene expression data for Megaloblastic Anemia.

Pathways for genes affiliated with Megaloblastic Anemia

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB, 61Thomson Reuters
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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
9.7CUBN, AMN
2
Show member pathways
9.5MTR, MTRR
3
Show member pathways
Vitamin B12 Metabolism39
9.5MTRR, GIF
4
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
9.2MTR, MTRR, DHFR
57.5SLC19A1, SLC19A2, GIF, CUBN, LMBRD1, SLC19A3
6
Show member pathways
5.8AMN, SLC19A3, MTR, MTRR, DHFR, GIF
75.8MTRR, MTR, SLC19A1, DHFR, GIF, CUBN
8
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
5.8SLC19A2, AMN, LMBRD1, CUBN, GIF, DHFR

Compounds for genes affiliated with Megaloblastic Anemia

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB, 3BitterDB
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Compounds related to Megaloblastic Anemia according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1pt 430469.9SLC19A1, DHFR
2ag 337469.9DHFR, SLC19A1
3ag 331469.9SLC19A1, DHFR
4cob(ii)alamin46 2510.9MTRR, MTR
5pt523469.9DHFR, SLC19A1
6metoprine469.9DHFR, SLC19A1
7Cob(I)alamin259.9MTR, MTRR
8ag 2034469.9DHFR, SLC19A1
9hdmtx469.9SLC19A1, DHFR
10edatrexate469.9SLC19A1, DHFR
111843u89469.9SLC19A1, DHFR
12Tetrahydrofolic acid25 1210.8MTR, DHFR
13methylcobalamin46 2510.8MTRR, MTR
14zd9331469.8SLC19A1, DHFR
15b vitamins469.8MTRR, MTR
16aminopterin46 1210.8SLC19A1, DHFR
17pterin46 2510.8MTR, DHFR
18trimetrexate46 1210.8DHFR, SLC19A1
19pteridine469.8DHFR, SLC19A1
20tomudex469.8SLC19A1, DHFR
21[3h]thiamine309.8SLC19A2, SLC19A3
22L-Methionine25 1210.8MTR, MTRR
23betaine46 2510.7MTR, MTRR
24cystathionine469.7MTR, MTRR
25methylmalonic acid46 2510.6MTRR, MTR
26flavin469.6MTRR, MTR
27tunicamycin46 6210.6SLC19A1, DHFR, CUBN
28cobalt46 2510.5GIF, MTR, CUBN
29aicar46 25 1211.5SLC19A1, DHFR
30isoleucine469.5MTR, MTRR
3110-formyltetrahydrofolate469.4DHFR, MTR, SLC19A1
32dihydrofolate469.4MTR, DHFR, SLC19A1
335-methyltetrahydrofolate46 1210.3MTRR, MTR, SLC19A1
34purine46 2510.3DHFR, SLC19A1, MTR
35hydroxocobalamin46 1210.2MTR, CUBN, MTRR, AMN
36cyanocobalamin52 25 1211.2MTR, MTRR, CUBN, AMN
37leucovorin46 52 1211.2SLC19A1, DHFR
38folic acid52 25 1211.2SLC19A2, MTRR, SLC19A1, DHFR
39homocysteine46 2510.2MTRR, MTR, SLC19A1
40s-adenosylmethionine46 25 1211.2SLC19A1, MTRR, MTR
41thiamine46 3 25 1212.2SLC19A2, SLC19A1, SLC19A3
42cobalamin46 2510.1MTR, MTRR, CUBN, GIF
43vitamin b12469.1GIF, CUBN, MTR, MTRR
44tetrahydrofolate469.0DHFR, MTRR, MTR, SLC19A1
45thymidylate469.0MTR, SLC19A1, MTRR, DHFR
46methionine468.9SLC19A1, CUBN, MTR, MTRR
47doxorubicin46 52 1210.9DHFR, MTR, SLC19A1
48methotrexate52 46 1210.7SLC19A2, SLC19A1, MTR, MTRR, DHFR
49glutamate468.6MTR, SLC19A1, MTRR, DHFR
50folate468.4SLC19A1, MTR, MTRR, DHFR, SLC19A2, CUBN

GO Terms for genes affiliated with Megaloblastic Anemia

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17Gene Ontology
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Cellular components related to Megaloblastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.6GIF, CUBN
2endocytic vesicleGO:0301399.4CUBN, AMN
3apical plasma membraneGO:0163249.1GIF, CUBN, AMN

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1receptor-mediated endocytosisGO:0068989.7AMN, CUBN
2folic acid transportGO:0158849.7SLC19A2, SLC19A1
3thiamine transmembrane transportGO:0719349.5SLC19A3, SLC19A2
4thiamine-containing compound metabolic processGO:0427239.5SLC19A2, SLC19A3
5methylationGO:0322599.5MTR, MTRR
6folic acid metabolic processGO:0466559.5MTRR, SLC19A1
7lipoprotein metabolic processGO:0421579.4AMN, CUBN
8cobalamin transportGO:0158899.4AMN, CUBN, GIF
9sulfur amino acid metabolic processGO:0000969.4MTRR, MTR
10cobalamin metabolic processGO:0092358.1LMBRD1, MTR, MTRR, GIF, CUBN, AMN
11water-soluble vitamin metabolic processGO:0067676.4SLC19A1, MTRR, GIF, CUBN, LMBRD1, AMN
12vitamin metabolic processGO:0067666.4SLC19A3, SLC19A2, SLC19A1, MTR, MTRR, GIF
13small molecule metabolic processGO:0442816.3SLC19A1, SLC19A3, MTR, AMN, MTRR, LMBRD1

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

idNameGO IDScoreTop Affiliating Genes
1folic acid transporter activityGO:0085179.6SLC19A2, SLC19A1
2thiamine uptake transmembrane transporter activityGO:0154039.1SLC19A2, SLC19A3
3cobalamin bindingGO:0314198.6MTR, GIF, CUBN, LMBRD1

Products for genes affiliated with Megaloblastic Anemia

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Sources for Megaloblastic Anemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet