IGS
MCID: MGL001
MIFTS: 66

Megaloblastic Anemia (IGS) malady

Genetic diseases, Rare diseases, Blood diseases, Gastrointestinal diseases, Endocrine diseases, Metabolic diseases categories
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Summaries for Megaloblastic Anemia

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NIH Rare Diseases:42 Imerslund-grasbeck syndrome (igs) is a rare condition characterized by vitamin b12 deficiency, often causing megaloblastic anemia. igs usually appears in childhood. other features may include failure to thrive, infections, and neurological damage. mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. igs is caused by mutations in either the cubn or amn gene and is inherited in an autosomal recessive manner. treatment includes life-long vitamin b12 injections, with which affected individuals can stay healthy for decades. last updated: 1/6/2014

MalaCards based summary: Megaloblastic Anemia, also known as imerslund-grasbeck syndrome, is related to thiamine-responsive megaloblastic anemia syndrome and homocystinuria. An important gene associated with Megaloblastic Anemia is CUBN (cubilin (intrinsic factor-cobalamin receptor)), 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 metoprine have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and bone marrow, and related mouse phenotypes are mortality/aging and homeostasis/metabolism.

Disease Ontology:8 A macrocytic anemia that is characterized by inhibition of dna synthesis during red blood cell production.

Genetics Home Reference:21 Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder called megaloblastic anemia. In this form of anemia, which is a disorder characterized by the shortage of red blood cells, the red cells that are present are abnormally large. About half of people with Imerslund-Gräsbeck syndrome also have high levels of protein in their urine (proteinuria). Although proteinuria can be an indication of kidney problems, people with Imerslund-Gräsbeck syndrome appear to have normal kidney function.

Wikipedia:65 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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Megaloblastic Anemia, Aliases & Descriptions:

Name: Megaloblastic Anemia 8 10
Imerslund-Grasbeck Syndrome 8 42 21 44
Megaloblastic Anemia 1 42 20 21
Defect of Enterocyte Intrinsic Factor Receptor 42 21
Enterocyte Cobalamin Malabsorption 42 21
Anemia Megaloblastic 8 44
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 42
Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12 21
Megaloblastic Anemia Due to Inborn Errors of Metabolism 62
Selective Cobalamin Malabsorption with Proteinuria 42
Thyroid Hormone Plasma Membrane Transport Defect 62
 
Recessive Hereditary Megaloblastic Anemia 1 8
Familial Megaloblastic Anemia 42
Imerslund-GrÓ“sbeck Syndrome 21
Imerslund-Gräsbeck Syndrome 21
Gräsbeck-Imerslund Disease 42
Grasbeck-Imerslund Syndrome 8
Anaemia - Megaloblastic 8
Anemia, Megaloblastic 62
Mga1 Norwegian Type 8
Rh-Mga1 8
Igs 42


Classifications:



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Disease Ontology8 DOID:13382
NCIt39 C34382
OMIM46 261100
MeSH34 D000749

Related Diseases for Megaloblastic Anemia

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

(show top 50)    (show all 478)
idRelated DiseaseScoreTop Affiliating Genes
1thiamine-responsive megaloblastic anemia syndrome31.7SLC19A1, SLC19A2
2homocystinuria31.2MTR, MTRR
3vitamin b12 deficiency30.8MTR, GIF, CUBN
4intrinsic factor deficiency30.6GIF
5folic acid deficiency anemia30.3SLC19A1, DHFR, MTR
6hyperhomocysteinemia29.9MTRR, MTR, SLC19A1
7deficiency anemia29.9GIF, DHFR, MTR, SLC19A2
8spina bifida29.8DHFR, SLC19A1, MTR, MTRR
9hyper ige syndrome11.0
10asthma11.0
11dermatitis10.9
12atopic dermatitis10.9
13rhinitis10.7
14atopy10.7
15food allergy10.7
16allergic rhinitis10.7
17eosinophilia10.6
18megaloblastic anemia due to dihydrofolate reductase deficiency10.6
19allergic asthma10.5
20aspergillosis10.5
21allergic bronchopulmonary aspergillosis10.5
22conjunctivitis10.5
23urticaria10.5
24autosomal dominant hyper ige syndrome10.5
25pernicious anemia10.5
26bullous pemphigoid10.5
27myeloma10.5
28allergic conjunctivitis10.5
29leukemia10.4
30thalassemia10.4
31scurvy10.4
32pancytopenia10.4
33homocystinuria-megaloblastic anemia, cbl e type10.4
34egg allergy10.4
35autosomal recessive hyper ige syndrome10.4
36diabetes mellitus10.4
37lubani al saleh teebi syndrome10.4
38homocystinuria-megaloblastic anemia, cblg complementation type10.4
39aphthous stomatitis10.4
40stomatitis10.4
41homocysteinemia10.4MTR
42homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type10.3
43methylmalonic aciduria and homocystinuria type cblf10.3
44polycythemia10.3
45psoriasis10.3
46cystic fibrosis10.3
47hiv-110.3
48exercise induced anaphylaxis10.3
49idiopathic generalized epilepsy10.3
50schistosomiasis10.3

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



Diseases related to megaloblastic anemia

Symptoms for Megaloblastic Anemia

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Clinical features from OMIM:

261100

Drugs & Therapeutics for Megaloblastic Anemia

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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-RT40:

Genetic Tests for Megaloblastic Anemia

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Genetic tests related to Megaloblastic Anemia:

id Genetic test Affiliating Genes
1 Megaloblastic Anemia 120 CUBN

Anatomical Context for Megaloblastic Anemia

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MalaCards organs/tissues related to Megaloblastic Anemia:

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

Animal Models for Megaloblastic Anemia or affiliated genes

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MGI Mouse Phenotypes related to Megaloblastic Anemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.5CUBN, MTR, SLC19A3, SLC19A1, SLC19A2, AMN
2MP:00053767.1SLC19A2, SLC19A1, SLC19A3, MTR, MTRR, CUBN

Publications for Megaloblastic Anemia

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Articles related to Megaloblastic Anemia:

(show top 50)    (show all 419)
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
A syndrome of megaloblastic anemia, immunodeficiency, and excessive nucleotide degradation. (1781393)
1991
22
Megaloblastic anemia caused by a congenital deficiency of transcobalamin II]. (2333586)
1990
23
Masked phenytoin-induced megaloblastic anemia in beta-thalassemia minor. (3113162)
1987
24
Selective malabsorption of vitamin B12 and vitamin B12-intrinsic factor with megaloblastic anemia in an adult. (4057272)
1985
25
Possible role of methotrexate in trimethoprim-sulfamethoxazole-induced acute megaloblastic anemia. (6724876)
1984
26
Masked megaloblastic anemia. (7138159)
1982
27
Characteristic abnormality of deoxyribonucleoside triphosphate metabolism in megaloblastic anemia. (7115960)
1982
28
Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II. (7421948)
1980
29
Trichobezoar--an unusual cause of megaloblastic anemia and hypoproteinemia in childhood. (4682019)
1973
30
Megaloblastic anemia after anticonvulsive therapy. (4627864)
1972
31
A case of megaloblastic anemia in the gibbon (Hylobates foolock). (5316973)
1971
32
Granulomatous gastritis associated with megaloblastic anemia. Probable tuberculous etiology. (5284709)
1971
33
Polycythemia following folic acid and vitamin B12 treatment of anticonvulsant-induced megaloblastic anemia. (5472894)
1970
34
Infants of mothers with megaloblastic anemia due to folate deficiency. (5467155)
1970
35
Gastrointestinal causes of megaloblastic anemia. (5671394)
1968
36
Megaloblastic anemia associated with parenchymal hemosiderosis. (5231720)
1967
37
Megaloblastic anemia of pregnancy. (5955950)
1966
38
Megaloblastic anemia. (5912534)
1966
39
Megaloblastic anemia in an adult vegan. (5920497)
1966
40
Human bone marrow chromosomes in megaloblastic anemia. (5844150)
1965
41
FOLACIN AND MEGALOBLASTIC ANEMIA. (14107341)
1964
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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Expression for genes affiliated with Megaloblastic Anemia

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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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Pathways related to Megaloblastic Anemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8CUBN, AMN
2
Show member pathways
9.5MTR, MTRR
3
Show member pathways
Vitamin B12 Metabolism37
9.5MTRR, GIF
4
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
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)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
5.8SLC19A2, AMN, LMBRD1, CUBN, GIF, DHFR

Compounds for genes affiliated with Megaloblastic Anemia

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Compounds related to Megaloblastic Anemia according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1pt 430449.9DHFR, SLC19A1
2metoprine449.9DHFR, SLC19A1
3Cob(I)alamin249.9MTRR, MTR
4ag 331449.9DHFR, SLC19A1
5cob(ii)alamin44 2410.9MTRR, MTR
6ag 337449.9DHFR, SLC19A1
7pt523449.9DHFR, SLC19A1
8ag 2034449.9SLC19A1, DHFR
9hdmtx449.9DHFR, SLC19A1
10edatrexate449.9DHFR, SLC19A1
11Tetrahydrofolic acid24 1110.9DHFR, MTR
121843u89449.9DHFR, SLC19A1
13methylcobalamin44 2410.8MTRR, MTR
14aminopterin44 1110.8DHFR, SLC19A1
15b vitamins449.8MTRR, MTR
16trimetrexate44 1110.8DHFR, SLC19A1
17zd9331449.8DHFR, SLC19A1
18pterin44 2410.8DHFR, MTR
19pteridine449.8SLC19A1, DHFR
20tomudex449.8DHFR, SLC19A1
21[3h]thiamine289.8SLC19A3, SLC19A2
22L-Methionine24 1110.7MTRR, MTR
23betaine44 2410.7MTRR, MTR
24cystathionine449.7MTRR, MTR
25methylmalonic acid44 2410.6MTR, MTRR
26tunicamycin44 6110.6SLC19A1, DHFR, CUBN
27flavin449.6MTR, MTRR
28cobalt44 2410.5MTR, GIF, CUBN
29aicar44 24 1111.5DHFR, SLC19A1
30isoleucine449.5MTR, MTRR
3110-formyltetrahydrofolate449.4SLC19A1, MTR, DHFR
32dihydrofolate449.4DHFR, MTR, SLC19A1
335-methyltetrahydrofolate44 1110.3MTRR, MTR, SLC19A1
34purine44 2410.3SLC19A1, MTR, DHFR
35cyanocobalamin50 24 1111.2AMN, CUBN, MTRR, MTR
36hydroxocobalamin44 1110.2AMN, CUBN, MTRR, MTR
37leucovorin44 50 1111.2SLC19A1, DHFR
38homocysteine44 2410.2MTRR, MTR, SLC19A1
39folic acid50 24 1111.2DHFR, MTRR, SLC19A1, SLC19A2
40s-adenosylmethionine44 24 1111.2SLC19A1, MTR, MTRR
41thiamine44 2 24 1112.1SLC19A2, SLC19A1, SLC19A3
42cobalamin44 2410.1MTR, MTRR, GIF, CUBN
43vitamin b12449.1CUBN, GIF, MTRR, MTR
44tetrahydrofolate449.0DHFR, MTRR, MTR, SLC19A1
45methionine449.0CUBN, MTRR, MTR, SLC19A1
46thymidylate449.0DHFR, MTRR, MTR, SLC19A1
47doxorubicin44 50 1110.9SLC19A1, MTR, DHFR
48methotrexate50 44 1110.6SLC19A2, SLC19A1, MTR, MTRR, DHFR
49glutamate448.6DHFR, MTRR, MTR, SLC19A1
50folate448.4SLC19A2, CUBN, DHFR, MTRR, MTR, SLC19A1

GO Terms for genes affiliated with Megaloblastic Anemia

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.7GIF, CUBN
2endocytic vesicleGO:0301399.5CUBN, 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:0068989.8CUBN, AMN
2folic acid transportGO:0158849.6SLC19A1, SLC19A2
3thiamine transmembrane transportGO:0719349.5SLC19A2, SLC19A3
4methylationGO:0322599.5MTR, MTRR
5thiamine-containing compound metabolic processGO:0427239.5SLC19A2, SLC19A3
6lipoprotein metabolic processGO:0421579.5CUBN, AMN
7folic acid metabolic processGO:0466559.5SLC19A1, MTRR
8cobalamin transportGO:0158899.4AMN, CUBN, GIF
9sulfur amino acid metabolic processGO:0000969.4MTRR, MTR
10cobalamin metabolic processGO:0092358.1MTR, MTRR, GIF, CUBN, LMBRD1, AMN
11vitamin metabolic processGO:0067666.4SLC19A2, SLC19A1, SLC19A3, MTR, MTRR, GIF
12water-soluble vitamin metabolic processGO:0067676.4GIF, CUBN, LMBRD1, AMN, MTRR, MTR
13small molecule metabolic processGO:0442816.3AMN, LMBRD1, CUBN, GIF, MTRR, MTR

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

idNameGO IDScoreTop Affiliating Genes
1folic acid transporter activityGO:0085179.5SLC19A2, SLC19A1
2thiamine uptake transmembrane transporter activityGO:0154039.0SLC19A2, SLC19A3
3cobalamin bindingGO:0314198.7MTR, GIF, CUBN, LMBRD1

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet