MCID: MGL001
MIFTS: 57

Megaloblastic Anemia malady

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Summaries for Megaloblastic Anemia

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 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:65 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...

Description from OMIM:47 261100

Aliases & Classifications for Megaloblastic Anemia

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8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 47OMIM
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Classifications:

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


Aliases & Descriptions:

megaloblastic anemia 8 10
anemia megaloblastic 8 45
megaloblastic anemia due to inborn errors of metabolism 62
recessive hereditary megaloblastic anemia 1 8
3-@methylglutaconic aciduria, type i 62
anaemia - megaloblastic 8
anemia, megaloblastic 62
mga1 norwegian type 8
rh-mga1 8


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Disease Ontology8 DOID:13382
NCIt40 C34382
MeSH35 D000749
OMIM47 261100

Related Diseases for Megaloblastic Anemia

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

261100

Drugs & Therapeutics for Megaloblastic Anemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Megaloblastic Anemia:

33
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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37MGI
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MGI Mouse Phenotypes related to Megaloblastic Anemia:

37
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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52PubMed
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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, 15Gene 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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 60Thomson 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 Metabolism38
9.5MTRR, GIF
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
9.2MTR, 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)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
5.8SLC19A2, AMN, LMBRD1, CUBN, GIF, DHFR

Compounds for genes affiliated with Megaloblastic Anemia

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45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience, 51PharmGKB, 3BitterDB
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Compounds related to Megaloblastic Anemia according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1pt 430459.9SLC19A1, DHFR
2ag 337459.9DHFR, SLC19A1
3ag 331459.9SLC19A1, DHFR
4cob(ii)alamin45 2410.9MTRR, MTR
5pt523459.9DHFR, SLC19A1
6metoprine459.9DHFR, SLC19A1
7Cob(I)alamin249.9MTR, MTRR
8ag 2034459.9DHFR, SLC19A1
9hdmtx459.9SLC19A1, DHFR
10edatrexate459.9SLC19A1, DHFR
111843u89459.9SLC19A1, DHFR
12Tetrahydrofolic acid24 1110.8MTR, DHFR
13methylcobalamin45 2410.8MTRR, MTR
14zd9331459.8SLC19A1, DHFR
15b vitamins459.8MTRR, MTR
16aminopterin45 1110.8SLC19A1, DHFR
17pterin45 2410.8MTR, DHFR
18trimetrexate45 1110.8DHFR, SLC19A1
19pteridine459.8DHFR, SLC19A1
20tomudex459.8SLC19A1, DHFR
21[3h]thiamine299.8SLC19A2, SLC19A3
22L-Methionine24 1110.8MTR, MTRR
23betaine45 2410.7MTR, MTRR
24cystathionine459.7MTR, MTRR
25methylmalonic acid45 2410.6MTRR, MTR
26flavin459.6MTRR, MTR
27tunicamycin45 6110.6SLC19A1, DHFR, CUBN
28cobalt45 2410.5GIF, MTR, CUBN
29aicar45 24 1111.5SLC19A1, DHFR
30isoleucine459.5MTR, MTRR
3110-formyltetrahydrofolate459.4DHFR, MTR, SLC19A1
32dihydrofolate459.4MTR, DHFR, SLC19A1
335-methyltetrahydrofolate45 1110.3MTRR, MTR, SLC19A1
34purine45 2410.3DHFR, SLC19A1, MTR
35hydroxocobalamin45 1110.2MTR, CUBN, MTRR, AMN
36cyanocobalamin51 24 1111.2MTR, MTRR, CUBN, AMN
37leucovorin45 51 1111.2SLC19A1, DHFR
38folic acid51 24 1111.2SLC19A2, MTRR, SLC19A1, DHFR
39homocysteine45 2410.2MTRR, MTR, SLC19A1
40s-adenosylmethionine45 24 1111.2SLC19A1, MTRR, MTR
41thiamine45 3 24 1112.2SLC19A2, SLC19A1, SLC19A3
42cobalamin45 2410.1MTR, MTRR, CUBN, GIF
43vitamin b12459.1GIF, CUBN, MTR, MTRR
44tetrahydrofolate459.0DHFR, MTRR, MTR, SLC19A1
45thymidylate459.0MTR, SLC19A1, MTRR, DHFR
46methionine458.9SLC19A1, CUBN, MTR, MTRR
47doxorubicin45 51 1110.9DHFR, MTR, SLC19A1
48methotrexate51 45 1110.7SLC19A2, SLC19A1, MTR, MTRR, DHFR
49glutamate458.6MTR, SLC19A1, MTRR, DHFR
50folate458.4SLC19A1, MTR, MTRR, DHFR, SLC19A2, CUBN

GO Terms for genes affiliated with Megaloblastic Anemia

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16Gene 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
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