MCID: MGL001
MIFTS: 54

Megaloblastic Anemia malady

Metabolic category

Summaries for Megaloblastic Anemia

Sources:
8Disease Ontology, 64Wikipedia, 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 deficiency anemia. An important gene associated with Megaloblastic Anemia is SLC19A2 (solute carrier family 19 (thiamine transporter), member 2), and among its related pathways are Vitamin B1 (thiamin) metabolism and glycine biosynthesis I. 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 bone marrow, spinal cord and heart.

Wikipedia:64 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...

Description from OMIM:47 261100

Aliases & Classifications for Megaloblastic Anemia

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Aliases & Descriptions:

megaloblastic anemia 8 10
anemia megaloblastic 8 45
megaloblastic anemia due to inborn errors of metabolism 61
recessive hereditary megaloblastic anemia 1 8
3-@methylglutaconic aciduria, type i 61
anaemia - megaloblastic 8
anemia, megaloblastic 61
mga1 norwegian type 8
rh-mga1 8


External Ids:

Disease Ontology8 DOID:13382
NCIt40 C34382
MeSH35 D000749
OMIM47 261100

Related Diseases for Megaloblastic Anemia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1thiamine-responsive megaloblastic anemia syndrome31.4SLC19A1, SLC19A2
2deficiency anemia31.3TCN2, GIF, DHFR, SLC19A2, TCN1
3folic acid deficiency anemia30.9SLC19A1, DHFR
4homocystinuria30.8MTRR, MMAA, MMACHC, TCN2
5pernicious anemia30.7TCN2, TCN1, GIF
6imerslund-grasbeck syndrome30.5CUBN
7hyperhomocysteinemia30.1SLC19A1, MTRR
83 methylglutaconic aciduria type i10.6
9refractory anemia10.6
10megaloblastic anemia due to dihydrofolate reductase deficiency10.5
11iron deficiency anemia10.5
12pancytopenia10.4
13scurvy10.4
14thalassemia10.4
15homocystinuria-megaloblastic anemia, cbl e type10.4
16barth syndrome10.4
173-methylglutaconic aciduria10.4
18lubani al saleh teebi syndrome10.4
19megaloblastic anemia 110.4
20homocystinuria-megaloblastic anemia, cblg complementation type10.4
21homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type10.3
22orotic aciduria10.3
23megaloblastic anemia-1, finnish type10.3
24homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type10.2
25ischemic retinopathy10.2
26atrophic gastritis10.2
27polycythemia vera10.2
28kwashiorkor10.2
29sickle cell anemia10.2
30tropical sprue10.2
31methylmalonic aciduria and homocystinuria type cblf10.2
32n syndrome10.2
33cone dystrophy10.2
34acute leukemia10.2
35aplastic anemia10.2
36hereditary folate malabsorption10.2
37glutamate formiminotransferase deficiency10.2
38cerebral folate deficiency10.2
39stroke, ischemic10.1
40protein-deficiency anemia10.1
41ebstein anomaly10.1
42diabetic ketoacidosis10.1
43hyperuricemia10.1
44leber congenital amaurosis10.1
45beta thalassemia10.1
46gastroschisis10.1
47hemosiderosis10.1
48hemochromatosis10.1
49transcobalamin ii deficiency10.1
50alpha thalassemia10.1

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



Diseases related to megaloblastic anemia

Clinical Features for Megaloblastic Anemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

261100

Drugs & Therapeutics for Megaloblastic Anemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Megaloblastic Anemia

Anatomical Context for Megaloblastic Anemia

Sources:
33MalaCards
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MalaCards organs/tissues related to Megaloblastic Anemia:

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

Animal Models for Megaloblastic Anemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Megaloblastic Anemia

Sources:
51PubMed
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Articles related to Megaloblastic Anemia:

(show top 50)    (show all 420)
idTitleAuthorsYear
1
Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations. (22576805)
2012
2
Chronic myelogenous leukemia accompanied by megaloblastic anemia showing atypical clinical features. (22185800)
2011
3
Refractory pancytopenia and megaloblastic anemia due to falciparum malaria. (20889623)
2011
4
Phrynoderma in a patient with megaloblastic anemia. (21157085)
2011
5
Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia. (19922902)
2009
6
Unusual case of thiamine responsive megaloblastic anemia. (19522453)
2009
7
Gastrointestinal abnormalities in vitamin B12 deficient patients with megaloblastic anemia. (19811726)
2009
8
DNA ploidy and cell cycle analyses in the bone marrow cells of patients with megaloblastic anemia using laser scanning cytometry. (18044723)
2008
9
Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. (11358373)
2001
10
Five years followup of diabetes mellitus in two siblings with thiamine responsive megaloblastic anemia. (11721072)
2001
11
Transient splenic accumulation of Tc-99m HMDP caused by megaloblastic anemia. (11129139)
2000
12
Thiamine, beta-cell function and peripheral glucose utilization in thiamine-responsive megaloblastic anemia (TRMA) syndrome. (11194926)
2000
13
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. (10074490)
1999
14
Case of the season. Megaloblastic anemia with subacute combined degeneration (SCD) of the spinal cord. (9988857)
1999
15
Megaloblastic anemia associated with psoriasis: case report and review of the literature. (1568032)
1992
16
A syndrome of megaloblastic anemia, immunodeficiency, and excessive nucleotide degradation. (1781393)
1991
17
Megaloblastic anemia in sarcoidosis. (3940494)
1986
18
Hyperpigmentation in megaloblastic anemia. (3998224)
1985
19
Megaloblastic anemia with oral lesions: a consequence of gastric bypass surgery. (3856799)
1985
20
Abnormalities in folate binding pattern of serum from a patient with megaloblastic anemia and folate deficiency. (7471498)
1981
21
Problems in the diagnosis and investigation of megaloblastic anemia. (6768440)
1980
22
Fever in megaloblastic anemia. (505076)
1979
23
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. (683264)
1978
24
Megaloblastic anemia during pregnancy. (915880)
1977
25
Generalized malabsorption, failure to thrive and megaloblastic anemia. Result of cyanocobalamin deficiency. (5085489)
1972
26
Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings. (5096637)
1971
27
Megaloblastic anemia complicating thalassemia. (5384114)
1969
28
Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acid. (5301410)
1968
29
Megaloblastic anemia. (5723148)
1968
30
Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine. (6026580)
1967
31
Megaloblastic anemia of the puerperium. (5902351)
1966
32
Isolated malabsorption of vitamin B12 causing megaloblastic anemia and hyperpigmentation in a Nigerian. Report of case. (5922681)
1966
33
Megaloblastic anemia of pregnancy persisting six months after termination of pregnancy. (5976007)
1966
34
MEGALOBLASTIC ANEMIA ASSOCIATED WITH JEJUNAL DIVERTICULA. (14243859)
1965
35
Some experiences with nutritional megaloblastic anemia. (5850554)
1965
36
Current concepts in therapy. Megaloblastic anemia. (13953900)
1963
37
Megaloblastic anemia complicating thalassemia major. (13974461)
1963
38
Megaloblastic anemia. (13953898)
1963
39
Cali-Harvard Nutrition Project. I. Megaloblastic anemia in kwashiorkor. (13996593)
1963
40
Serum vitamin B12 concentrations in megaloblastic anemia associated with kwashiorkor and marasmus. (13859314)
1962
41
Megaloblastic anemia in scurvy with response to 50 microgm. of folic acid daily. (14009735)
1961
42
The effect of "minute" and "titrated" amounts of folic acid on the megaloblastic anemia of tropical sprue. (13911562)
1961
43
Erythrokinetics in the megaloblastic anemia of tropical sprue. (14445727)
1960
44
Non-Addisonian megaloblastic anemia; the intermediate megaloblast in the differential diagnosis of pernicious and related anemias. (13559272)
1958
45
Absorption of radioactive vitamin B12 in the syndrome of megaloblastic anemia associated with intestinal stricture or anastomosis. (13282921)
1956
46
Experimental megaloblastic anemia in young guinea pigs. (13284064)
1956
47
Megaloblastic anemia of pregnancy in two sisters: case reports and an investigation of the hemolytic mechanism by means of erythrocyte survival studies. (13250038)
1955
48
The response of megaloblastic anemia of pregnancy to vitamin B12. (13174259)
1954
49
Megaloblastic anemia in infancy. (18899739)
1948
50
Folic acid in megaloblastic anemia after total gastrectomy; report of a case. (20254040)
1947

Genetic Variations for Megaloblastic Anemia

Expression for genes affiliated with Megaloblastic Anemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

Compounds for genes affiliated with Megaloblastic Anemia

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 2BitterDB, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Megaloblastic Anemia according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1pt 4304510.6DHFR, SLC19A1
2[3h]thiamine2910.6SLC19A3, SLC19A2
3ag 3314510.6SLC19A1, DHFR
4metoprine4510.6SLC19A1, DHFR
5ag 3374510.5DHFR, SLC19A1
6pt5234510.5DHFR, SLC19A1
7ag 20344510.5DHFR, SLC19A1
8[3h]methotrexate2910.5SLC46A1, SLC19A1
9[3h]folic acid2910.5SLC46A1, SLC19A1
10hdmtx4510.5DHFR, SLC19A1
111843u894510.5SLC19A1, DHFR
12edatrexate4510.5SLC19A1, DHFR
13tetrahydrofolate4510.5SLC19A1, DHFR, MTRR
14corrinoid4510.5TCN1, TCN2
15trimetrexate45 1111.5DHFR, SLC19A1
16zd93314510.4DHFR, SLC19A1
17thiamine45 2 11 2413.4SLC19A2, SLC19A1, SLC19A3
18aminopterin45 1111.4DHFR, SLC46A1, SLC19A1
19methylcobalamin45 2411.4MTRR, TCN1, TCN2
20methylmalonic acid45 2411.4TCN2, TCN1, MTRR
21adenosylcobalamin45 2411.4TCN2, MMAA
2210-formyltetrahydrofolate4510.4DHFR, SLC19A1
23leucovorin45 50 1112.3SLC19A1, DHFR, FTCD
24pteridine4510.3SLC19A1, DHFR
25tunicamycin45 6011.3SLC19A1, CUBN, DHFR
265-methyltetrahydrofolate45 1111.3SLC19A1, MTRR
27homocysteine45 2411.2MTRR, SLC19A1, TCN1, TCN2
28tomudex4510.2DHFR, SLC19A1
29rabeprazole45 50 11 2413.2ATP4A, ATP4B
30cystathionine4510.2TCN2, MTRR
31methotrexate45 50 1112.2MTRR, DHFR, SLC46A1, SLC19A1, SLC19A2
32folic acid50 11 2412.1FTCD, DHFR, SLC46A1, SLC19A1, SLC19A2
33methionine4510.1MTRR, CUBN, SLC19A1, TCN1, TCN2
34cobalt45 2411.1GIF, MMACHC, CUBN, TCN1, TCN2
35thymidylate4510.0SLC19A1, DHFR, MTRR
36folate459.9MTRR, FTCD, DHFR, CUBN, SLC19A1, SLC19A2
37Tetrahydrofolic acid11 2410.9DHFR, FTCD
38hydroxocobalamin45 1110.8MTRR, AMN, MMAA, MMACHC, CUBN, TCN2
39cyanocobalamin50 11 2411.8TCN2, TCN1, CUBN, MMACHC, MMAA, MTRR
40vitamin b12459.8MTRR, GIF, MMAA, MMACHC, CUBN, TCN1
41cobalamin45 2410.6TCN2, TCN1, CUBN, MMACHC, MMAA, CD320

GO Terms for genes affiliated with Megaloblastic Anemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Megaloblastic Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:04320210.0TCN2, CUBN, GIF

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1folic acid metabolic processGO:04665510.1SLC19A1, SLC46A1
2cobalt ion transportGO:00682410.1GIF, TCN2, TCN1
3folic acid transportGO:01588410.0SLC19A1, SLC46A1, SLC19A2
4cobalamin biosynthetic processGO:00923610.0MMAA, MMACHC
5cobalamin transportGO:01588910.0GIF, CUBN, TCN1, TCN2
6thiamine-containing compound metabolic processGO:0427239.9SLC19A3, SLC19A2
7cobalamin metabolic processGO:0092359.2AMN, TCN2, TCN1, CUBN, LMBRD1, MMACHC
8water-soluble vitamin metabolic processGO:0067678.5CUBN, LMBRD1, MMACHC, MMAA, CD320, GIF
9vitamin metabolic processGO:0067668.5MMACHC, LMBRD1, CUBN, SLC46A1, SLC19A3, SLC19A1
10small molecule metabolic processGO:0442818.3SLC19A1, SLC19A3, SLC46A1, GIF, SLC19A2, TCN1

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

idNameGO IDScoreTop Affiliating Genes
1reduced folate carrier activityGO:00851810.1SLC19A2, SLC19A1, SLC19A3
2hydrogen:potassium-exchanging ATPase activityGO:00890010.0ATP4A, ATP4B
3folic acid transporter activityGO:0085179.9SLC19A2, SLC19A1, SLC46A1
4thiamine uptake transmembrane transporter activityGO:0154039.9SLC19A3, SLC19A2
5folic acid bindingGO:0055429.8SLC19A2, SLC19A1, SLC19A3, SLC46A1, FTCD
6cobalamin bindingGO:0314199.5GIF, CD320, MMACHC, LMBRD1, CUBN, TCN1

Products for genes affiliated with Megaloblastic Anemia

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Sources for Megaloblastic Anemia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet