MCID: MGL001
MIFTS: 55

Megaloblastic Anemia malady

Metabolic diseases category

Summaries for Megaloblastic Anemia

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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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 deficiency anemia and thiamine-responsive megaloblastic anemia syndrome. 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 [3h]thiamine and pt 430 have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes.

Wikipedia:63 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...

Description from OMIM:46 261100

Aliases & Classifications for Megaloblastic Anemia

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

megaloblastic anemia 8 10
anemia megaloblastic 8 44
megaloblastic anemia due to inborn errors of metabolism 60
recessive hereditary megaloblastic anemia 1 8
3-@methylglutaconic aciduria, type i 60
anaemia - megaloblastic 8
anemia, megaloblastic 60
mga1 norwegian type 8
rh-mga1 8


External Ids:

Disease Ontology8 DOID:13382
NCIt39 C34382
MeSH34 D000749
OMIM46 261100

Related Diseases for Megaloblastic Anemia

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17GeneCards, 18GeneDecks
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Diseases in the Megaloblastic Anemia family:

Megaloblastic Anemia 1

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

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia31.3GIF, TCN2, TCN1, SLC19A2, DHFR
2thiamine-responsive megaloblastic anemia syndrome31.1SLC19A1, SLC19A2
3folic acid deficiency anemia30.9SLC19A1, DHFR
4homocystinuria30.8TCN2, MMACHC, MMAA, MTRR
5vitamin b12 deficiency30.8GIF, CUBN, TCN1, TCN2
6pernicious anemia30.7TCN1, GIF, TCN2
7imerslund-grasbeck syndrome30.4CUBN
8hyperhomocysteinemia30.0SLC19A1, MTRR
93 methylglutaconic aciduria type i10.6
10megaloblastic anemia due to dihydrofolate reductase deficiency10.5
11iron deficiency anemia10.5
12pancytopenia10.4
13scurvy10.4
14leukemia10.4
15thalassemia10.4
16homocystinuria-megaloblastic anemia, cbl e type10.4
17barth syndrome10.4
183-methylglutaconic aciduria10.4
19diabetes mellitus10.3
20macrocytic anemia10.3
21lubani al saleh teebi syndrome10.3
22homocystinuria-megaloblastic anemia, cblg complementation type10.3
23homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type10.3
24transcobalamin ii deficiency10.3
25methylmalonic aciduria and homocystinuria type cblf10.3
26polycythemia10.3
27psoriasis10.3
28megaloblastic anemia 110.3
29megaloblastic anemia-1, finnish type10.3
30homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type10.2
31ischemic retinopathy10.2
32atrophic gastritis10.2
33polycythemia vera10.2
34kwashiorkor10.2
35cerebritis10.2
36cone-rod dystrophy10.2
37sickle cell anemia10.2
38tropical sprue10.2
39cone dystrophy10.2
40acute leukemia10.2
41aplastic anemia10.2
42gastritis10.2
43hemolytic anemia10.2
44malaria10.2
45neonatal anemia10.2
46proteinuria10.2
47retinitis10.2
48hereditary folate malabsorption10.2
49glutamate formiminotransferase deficiency10.2
50orotic aciduria10.2

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



Diseases related to megaloblastic anemia

Clinical Features for Megaloblastic Anemia

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46OMIM
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Clinical features from OMIM:

261100

Drugs & Therapeutics for Megaloblastic Anemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Megaloblastic Anemia

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Anatomical Context for Megaloblastic Anemia

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32MalaCards
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MalaCards organs/tissues related to Megaloblastic Anemia:

32
Bone, Bone marrow, Testes, Liver, Small intestine, Breast, Myeloid, Heart, Spinal cord, Thyroid, T cells

Animal Models for Megaloblastic Anemia or affiliated genes

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Publications for Megaloblastic Anemia

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50PubMed
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Articles related to Megaloblastic Anemia:

(show top 50)    (show all 427)
idTitleAuthorsYear
1
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. (23454484)
2013
2
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent. (22837935)
2012
3
Megaloblastic anemia--a rare cause. (21630071)
2011
4
Refractory pancytopenia and megaloblastic anemia due to falciparum malaria. (20889623)
2011
5
Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia. (21559159)
2010
6
Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. (19619756)
2009
7
Unusual case of thiamine responsive megaloblastic anemia. (19522453)
2009
8
Thiamine responsive megaloblastic anemia. (19242038)
2009
9
Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction. (19734452)
2009
10
Case of megaloblastic anemia caused by intestinal taeniasis. (14730392)
2004
11
Homocystinuria: a rare cause of megaloblastic anemia. (15475638)
2004
12
Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA). (12893755)
2003
13
Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. (11358373)
2001
14
Apoptosis in megaloblastic anemia occurs during DNA synthesis by a p53-independent, nucleoside-reversible mechanism. (11050010)
2000
15
Transient splenic accumulation of Tc-99m HMDP caused by megaloblastic anemia. (11129139)
2000
16
Thiamine, beta-cell function and peripheral glucose utilization in thiamine-responsive megaloblastic anemia (TRMA) syndrome. (11194926)
2000
17
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. (9399900)
1997
18
Megaloblastic anemia in pregnancy. (8612357)
1995
19
Cytoplasmic vacuolization of enterocytes: an unusual histopathologic finding in juvenile nutritional megaloblastic anemia. (2020662)
1991
20
Megaloblastic anemia caused by a congenital deficiency of transcobalamin II]. (2333586)
1990
21
Thiamine responsive megaloblastic anemia: a ten-years therapy follow-up. (2507415)
1989
22
Quantitative exfoliative oral cytology in iron-deficiency and megaloblastic anemia. (3408543)
1988
23
Megaloblastic anemia and brief exposure to nitrous oxide--a causal relationship. (3341570)
1988
24
The direct antiglobulin test in megaloblastic anemia. (3727016)
1986
25
Hyperpigmentation in megaloblastic anemia. (3998224)
1985
26
Status of laboratory testing in the diagnosis of megaloblastic anemia. (6831032)
1983
27
Meckel's diverticulum complicated by megaloblastic anemia. (7081186)
1982
28
Acute megaloblastic anemia induced by high-dose trimethoprim-sulfamethoxazole. (6972183)
1981
29
Abnormalities in folate binding pattern of serum from a patient with megaloblastic anemia and folate deficiency. (7471498)
1981
30
Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II. (7421948)
1980
31
Problems in the diagnosis and investigation of megaloblastic anemia. (6768440)
1980
32
Abnormal erythrocyte membrane protein pattern in severe megaloblastic anemia. (659579)
1978
33
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
34
Death in anticonvulsant-induced megaloblastic anemia. (4739501)
1973
35
Megaloblastic anemia and oral contraceptives. (5033044)
1972
36
Altered catabolism of 14C-formate by erythrocytes of folic acid-deficient rats: a possible in vitro means for differential diagnosis of megaloblastic anemia in man? (5580837)
1971
37
Megaloblastic anemia due to folic acid deficiency in polycythemia vera. (6061613)
1967
38
Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency. (5300832)
1967
39
Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine. (6026580)
1967
40
Megaloblastic anemia. (5912534)
1966
41
Megaloblastic anemia and methotrexate therapy. (5917383)
1966
42
Megaloblastic anemia. (13953898)
1963
43
Cali-Harvard Nutrition Project. I. Megaloblastic anemia in kwashiorkor. (13996593)
1963
44
SERUM LACTATE DEHYDROGENASE IN THE DIAGNOSIS OF MEGALOBLASTIC ANEMIA. (14047423)
1963
45
Experimental megaloblastic anemia in young guinea pigs. (13284064)
1956
46
Megaloblastic anemia of pregnancy in two sisters: case reports and an investigation of the hemolytic mechanism by means of erythrocyte survival studies. (13250038)
1955
47
The response of megaloblastic anemia of pregnancy to vitamin B12. (13174259)
1954
48
Infection as cause of folic acid deficiency and megaloblastic anemia; experimental induction of megaloblastic anemia by turpentine abscess. (12995996)
1952
49
Vitamin B12 and pteroylglutamic acids in megaloblastic anemia]. (13014884)
1952
50
Experimental megaloblastic anemia and scurvy in the monkey. IV. Vitamin B12 and folic acid compounds in the diet, liver, urine and feces and effects of therapy. (12977829)
1952

Genetic Variations for Megaloblastic Anemia

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Expression for genes affiliated with Megaloblastic Anemia

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1BioGPS, 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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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Megaloblastic Anemia

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28IUPHAR, 44Novoseek, 11DrugBank, 2BitterDB, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Megaloblastic Anemia according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1[3h]thiamine2810.6SLC19A2, SLC19A3
2pt 4304410.6DHFR, SLC19A1
3metoprine4410.6DHFR, SLC19A1
4ag 3314410.6DHFR, SLC19A1
5ag 3374410.5DHFR, SLC19A1
6pt5234410.5DHFR, SLC19A1
7ag 20344410.5DHFR, SLC19A1
8[3h]methotrexate2810.5SLC46A1, SLC19A1
9[3h]folic acid2810.5SLC19A1, SLC46A1
10hdmtx4410.5DHFR, SLC19A1
11edatrexate4410.5SLC19A1, DHFR
121843u894410.5SLC19A1, DHFR
13tetrahydrofolate4410.5DHFR, MTRR, SLC19A1
14corrinoid4410.5TCN2, TCN1
15trimetrexate44 1111.5SLC19A1, DHFR
16zd93314410.4SLC19A1, DHFR
17thiamine44 2 11 2413.4SLC19A3, SLC19A1, SLC19A2
18aminopterin44 1111.4SLC46A1, SLC19A1, DHFR
19methylcobalamin44 2411.4TCN1, MTRR, TCN2
20methylmalonic acid44 2411.4MTRR, TCN1, TCN2
21adenosylcobalamin44 2411.4TCN2, MMAA
2210-formyltetrahydrofolate4410.4SLC19A1, DHFR
23leucovorin44 49 1112.3DHFR, SLC19A1, FTCD
245-methyltetrahydrofolate44 1111.3SLC19A1, MTRR
25tunicamycin44 5911.3DHFR, SLC19A1, CUBN
26pteridine4410.3SLC19A1, DHFR
27homocysteine44 2411.2TCN1, SLC19A1, TCN2, MTRR
28tomudex4410.2DHFR, SLC19A1
29rabeprazole44 49 11 2413.2ATP4B, ATP4A
30cystathionine4410.2MTRR, TCN2
31methotrexate44 49 1112.2SLC19A2, SLC19A1, SLC46A1, DHFR, MTRR
32folic acid49 11 2412.1SLC19A1, SLC46A1, DHFR, FTCD, SLC19A2
33methionine4410.1TCN2, TCN1, CUBN, SLC19A1, MTRR
34cobalt44 2411.1CUBN, GIF, TCN2, MMACHC, TCN1
35thymidylate4410.0SLC19A1, MTRR, DHFR
36folate449.9TCN2, SLC19A2, SLC19A1, MTRR, CUBN, DHFR
37Tetrahydrofolic acid11 2410.9DHFR, FTCD
38cyanocobalamin49 11 2411.8MTRR, CUBN, TCN1, TCN2, AMN, MMAA
39hydroxocobalamin44 1110.8AMN, MTRR, MMAA, TCN2, MMACHC, CUBN
40vitamin b12449.8TCN1, CUBN, MMACHC, MMAA, GIF, TCN2
41cobalamin44 2410.6CD320, MTRR, TCN2, GIF, MMACHC, MMAA

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: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:00890010.0ATP4B, ATP4A
3folic acid transporter activityGO:0085179.9SLC46A1, SLC19A1, SLC19A2
4thiamine uptake transmembrane transporter activityGO:0154039.9SLC19A2, SLC19A3
5folic acid bindingGO:0055429.8FTCD, SLC46A1, SLC19A3, SLC19A1, SLC19A2
6cobalamin bindingGO:0314199.5TCN2, TCN1, CUBN, LMBRD1, MMACHC, CD320

Products for genes affiliated with Megaloblastic Anemia

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Sources for Megaloblastic Anemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet