MCID: MGL001
MIFTS: 55

Megaloblastic Anemia malady

Metabolic diseases category

Summaries for Megaloblastic Anemia

About this section
Sources:
8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 pt 430 and [3h]thiamine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone 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

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 46OMIM
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

261100

Drugs & Therapeutics for Megaloblastic Anemia

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

Genetic Tests for Megaloblastic Anemia

About this section

Anatomical Context for Megaloblastic Anemia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Megaloblastic Anemia:

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

Animal Models for Megaloblastic Anemia or affiliated genes

About this section

Publications for Megaloblastic Anemia

About this section
Sources:
50PubMed
See all sources

Articles related to Megaloblastic Anemia:

(show top 50)    (show all 427)
idTitleAuthorsYear
1
Leber's Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report. (23638917)
2013
2
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation. (22876572)
2012
3
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. (21310277)
2011
4
Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. (21285901)
2011
5
Megaloblastic anemia and other causes of macrocytosis. (16988104)
2006
6
P.o. versus i.m. cobalamin treatment in megaloblastic anemia. (15262464)
2004
7
Increased serum CA-15.3 levels in patients with megaloblastic anemia due to vitamin B12 deficiency. (15713991)
2004
8
The characteristics of megaloblastic anemia associated with thalassemia. (12010671)
2002
9
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. (10066388)
1999
10
Severe megaloblastic anemia complicating pyrimethamine therapy. (7741386)
1995
11
Severe megaloblastic anemia in a patient receiving low-dose methotrexate for psoriasis. (8349867)
1993
12
Neutrophil function in megaloblastic anemia. (2977731)
1988
13
Masked phenytoin-induced megaloblastic anemia in beta-thalassemia minor. (3113162)
1987
14
Atypical cobalamin deficiency. Subtle biochemical evidence of deficiency is commonly demonstrable in patients without megaloblastic anemia and is often associated with protein-bound cobalamin malabsorption. (3819580)
1987
15
Centromere spreading in a case of megaloblastic anemia "cured" under TC 199 culture conditions. (3943072)
1986
16
Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism. (6700644)
1984
17
Emperipolesis by megakaryocytes in patients with non-Hodgkin's lymphoma and megaloblastic anemia. (7077719)
1982
18
Megaloblastic anemia and pancytopenia due to Proguanil in patients with chronic renal failure. (7140018)
1982
19
Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test. (7357085)
1980
20
Megaloblastic anemia in patients receiving total parenteral nutrition without folic acid or vitamin B12 supplementation. (406033)
1977
21
Depressed cell-mediated immunity in megaloblastic anemia due to folic acid deficiency. (1119420)
1975
22
Pink staining of pernicious anemia megaloblasts by alizarin red S. (4137881)
1974
23
A case of encephalopathic, myelopathic, and peripheral nerve dysfunction in folate deficient megaloblastic anemia. (4346292)
1973
24
Cytochemical study of granulopoietic tissue. 3. Megaloblastic and macrocytic anemia. (5020392)
1972
25
Granulomatous gastritis associated with megaloblastic anemia. Probable tuberculous etiology. (5284709)
1971
26
Beta-melanocyte stimulating hormone levels in subjects with hyperpigmentation associated with megaloblastic anemia. (5412677)
1970
27
Vitamin B12 metabolism and megaloblastic anemia. (4905914)
1970
28
Anemia. 6. Megaloblastic anemia. II. (5505605)
1970
29
Thiamine-responsive megaloblastic anemia. (5767338)
1969
30
Proliferation of megaloblasts in pernicious anemia as observed from nucleic acid metabolism. (5640627)
1968
31
Megaloblastic anemia associated with parenchymal hemosiderosis. (5231720)
1967
32
Megaloblastic anemia in an adult vegan. (5920497)
1966
33
ERYTHROCYTE-REDUCED GLUTATHIONE IN MEGALOBLASTIC ANEMIA. (14263048)
1965
34
MEGALOBLASTIC ANEMIA OCCURRING SIMULTANEOUSLY IN WHITE FEMALE MONOZYGOTIC TWINS. (14285300)
1965
35
FOLACIN AND MEGALOBLASTIC ANEMIA. (14107341)
1964
36
SELECTED ADVANCES IN HEMATOLOGY. INEFFECTIVE ERYTHROPOIESIS; PATHOGENESIS OF MEGALOBLASTIC ANEMIA; HEMOSTASIS AND COAGULATION. (14143668)
1964
37
MACROCYTOSIS AND MEGALOBLASTIC ANEMIA DUE TO ANTI-CONVULSANT DRUGS. (14206260)
1964
38
Vitamin B12 absorption studies in a vegetarian with megaloblastic anemia. (13991865)
1963
39
Variation in the amount of hemoglobin S in a patient with sickle cell trait and megaloblastic anemia. (13953594)
1963
40
Megaloblastic anemia associated with intestinal anastomoses and strictures; report of 2 cases. (13401394)
1957
41
Incidence of megaloblastic anemia after subtotal gastrectomy. (13452086)
1957
42
Incidence of megaloblastic anemia after total gastrectomy. (13322180)
1956
43
Idiopathic refractory megaloblastic anemia; case report. (14375811)
1955
44
Megaloblastic anemia of pregnancy and the puerperium. (13268516)
1955
45
Megaloblastic anemia of pregnancy. (13124414)
1954
46
Megaloblastic anemia in infancy. (14934436)
1952
47
Experimental nutritional megaloblastic anemia. II. Hematology. (12997534)
1952
48
Megaloblastic anemia in pregnancy; remission following combined therapy with ascorbic acid and vitamin B12. (14891979)
1951
49
Experimental production of megaloblastic anemia in relation to megaloblastic anemia in infants. (18128848)
1950
50
Megaloblastic anemia in infants. (20269416)
1947

Genetic Variations for Megaloblastic Anemia

About this section

Expression for genes affiliated with Megaloblastic Anemia

About this section
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

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG
See all sources

Compounds for genes affiliated with Megaloblastic Anemia

About this section
Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 2BitterDB, 24HMDB, 49PharmGKB, 59Tocris Bioscience
See all sources

Compounds related to Megaloblastic Anemia according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1pt 4304410.6DHFR, SLC19A1
2[3h]thiamine2810.6SLC19A3, SLC19A2
3ag 3314410.6SLC19A1, DHFR
4metoprine4410.6SLC19A1, DHFR
5ag 3374410.5DHFR, SLC19A1
6pt5234410.5DHFR, SLC19A1
7ag 20344410.5DHFR, SLC19A1
8[3h]methotrexate2810.5SLC46A1, SLC19A1
9[3h]folic acid2810.5SLC46A1, SLC19A1
10hdmtx4410.5DHFR, SLC19A1
111843u894410.5SLC19A1, DHFR
12edatrexate4410.5SLC19A1, DHFR
13tetrahydrofolate4410.5SLC19A1, DHFR, MTRR
14corrinoid4410.5TCN1, TCN2
15trimetrexate44 1111.5DHFR, SLC19A1
16zd93314410.4DHFR, SLC19A1
17thiamine44 2 11 2413.4SLC19A2, SLC19A1, SLC19A3
18aminopterin44 1111.4DHFR, SLC46A1, SLC19A1
19methylcobalamin44 2411.4MTRR, TCN1, TCN2
20methylmalonic acid44 2411.4TCN2, TCN1, MTRR
21adenosylcobalamin44 2411.4TCN2, MMAA
2210-formyltetrahydrofolate4410.4DHFR, SLC19A1
23leucovorin44 49 1112.3SLC19A1, DHFR, FTCD
24pteridine4410.3SLC19A1, DHFR
25tunicamycin44 5911.3SLC19A1, CUBN, DHFR
265-methyltetrahydrofolate44 1111.3SLC19A1, MTRR
27homocysteine44 2411.2MTRR, SLC19A1, TCN1, TCN2
28tomudex4410.2DHFR, SLC19A1
29rabeprazole44 49 11 2413.2ATP4A, ATP4B
30cystathionine4410.2TCN2, MTRR
31methotrexate44 49 1112.2MTRR, DHFR, SLC46A1, SLC19A1, SLC19A2
32folic acid49 11 2412.1FTCD, DHFR, SLC46A1, SLC19A1, SLC19A2
33methionine4410.1MTRR, CUBN, SLC19A1, TCN1, TCN2
34cobalt44 2411.1GIF, MMACHC, CUBN, TCN1, TCN2
35thymidylate4410.0SLC19A1, DHFR, MTRR
36folate449.9MTRR, FTCD, DHFR, CUBN, SLC19A1, SLC19A2
37Tetrahydrofolic acid11 2410.9DHFR, FTCD
38hydroxocobalamin44 1110.8MTRR, AMN, MMAA, MMACHC, CUBN, TCN2
39cyanocobalamin49 11 2411.8TCN2, TCN1, CUBN, MMACHC, MMAA, MTRR
40vitamin b12449.8MTRR, GIF, MMAA, MMACHC, CUBN, TCN1
41cobalamin44 2410.6TCN2, TCN1, CUBN, MMACHC, MMAA, CD320

GO Terms for genes affiliated with Megaloblastic Anemia

About this section
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, TCN1, TCN2
3folic acid transportGO:01588410.0SLC19A2, SLC19A1, SLC46A1
4cobalamin biosynthetic processGO:00923610.0MMAA, MMACHC
5cobalamin transportGO:01588910.0TCN2, TCN1, CUBN, GIF
6thiamine-containing compound metabolic processGO:0427239.9SLC19A2, SLC19A3
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:0067668.5LMBRD1, CUBN, SLC46A1, SLC19A3, SLC19A1, SLC19A2
10small molecule metabolic processGO:0442818.3MMAA, CD320, FTCD, GIF, MTRR, AMN

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Megaloblastic Anemia

About this section
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