MCID: MGL001
MIFTS: 49

Megaloblastic Anemia

Categories: Rare diseases, Blood diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Megaloblastic Anemia

MalaCards integrated aliases for Megaloblastic Anemia:

Name: Megaloblastic Anemia 12 29 14
Imerslund-Grasbeck Syndrome 12 50 25
Defect of Enterocyte Intrinsic Factor Receptor 50 25
Enterocyte Cobalamin Malabsorption 50 25
Megaloblastic Anemia 1 50 25
Anemia, Megaloblastic 42 69
Igs 12 50
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 50
Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12 25
Megaloblastic Anemia Due to Inborn Errors of Metabolism 69
Selective Cobalamin Malabsorption with Proteinuria 50
Recessive Hereditary Megaloblastic Anemia 1 12
Familial Megaloblastic Anemia 50
Grasbeck-Imerslund Syndrome 12
Imerslund-Gräsbeck Syndrome 25
Gräsbeck-Imerslund Disease 50
Anemia Megaloblastic 52
Mga1 Norwegian Type 12
Rh-Mga1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13382
ICD10 33 D53.1
MeSH 42 D000749
NCIt 47 C34382
UMLS 69 C0002888

Summaries for Megaloblastic Anemia

NIH Rare Diseases : 50 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 congenital intrinsic factor deficiency and thiamine-responsive megaloblastic anemia syndrome. An important gene associated with Megaloblastic Anemia is CUBN (Cubilin), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Hydroxocobalamin and Copper have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone.

Disease Ontology : 12 A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.

Genetics Home Reference : 25 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 : 72 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...

Related Diseases for Megaloblastic Anemia

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

(show top 50) (show all 175)
id Related Disease Score Top Affiliating Genes
1 congenital intrinsic factor deficiency 33.2 MTR MTRR
2 thiamine-responsive megaloblastic anemia syndrome 12.6
3 hyper-ige recurrent infection syndrome 12.4
4 homocystinuria-megaloblastic anemia, cblg complementation type 12.3
5 megaloblastic anemia due to dihydrofolate reductase deficiency 12.3
6 homocystinuria-megaloblastic anemia, cbl e type 12.3
7 hyper-ige recurrent infection syndrome, autosomal recessive 12.2
8 hyper ige syndrome 12.2
9 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige 12.1
10 congenital disorder of glycosylation, type ig 12.0
11 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.0
12 amelogenesis imperfecta, type ig 12.0
13 selective ige deficiency disease 11.8
14 megaloblastic anemia-1, finnish type 11.7
15 amelogenesis imperfecta hypoplastic type, ig 11.7
16 acquired monoclonal ig light chain-associated fanconi syndrome 11.7
17 netherton syndrome 11.6
18 immunodeficiency 35 11.6
19 orotic aciduria 11.5
20 immunodeficiency 23 11.4
21 alg12-congenital disorder of glycosylation 11.4
22 iminoglycinuria, digenic 11.3
23 common variable immunodeficiency 11.3
24 idiopathic generalized epilepsy 11.2
25 folate malabsorption, hereditary 11.2
26 homocystinuria 11.2
27 transcobalamin ii deficiency 11.2
28 atrophic gastritis 11.2
29 asthma 11.2
30 lubani-al saleh-teebi syndrome 11.2
31 atopy 11.1
32 glutamate formiminotransferase deficiency 11.1
33 dyserythropoietic anemia, congenital, type iii 11.0
34 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.9
35 immunodeficiency with hyper-igm, type 2 10.9
36 immunodeficiency with hyper igm, type 5 10.9
37 immunodeficiency, x-linked, with hyper-igm 10.9
38 nephrotic syndrome, type 7 10.9
39 usher syndrome, type 1g 10.9
40 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 10.9
41 methylmalonic acidemia with homocystinuria 10.8
42 vitamin b12-responsive methylmalonic acidemia 10.8
43 methylmalonic aciduria and homocystinuria, cblf type 10.8
44 lesch-nyhan syndrome 10.8
45 methylmalonic aciduria and homocystinuria, cbld type 10.8
46 intrinsic factor deficiency 10.8
47 immunodeficiency with hyper-igm, type 4 10.8
48 asthma susceptibility 5 10.8
49 asthma-related traits 7 10.8
50 peeling skin syndrome 1 10.8

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



Diseases related to Megaloblastic Anemia

Symptoms & Phenotypes for Megaloblastic Anemia

Drugs & Therapeutics for Megaloblastic Anemia

Drugs for Megaloblastic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 4,Phase 2,Phase 3 13422-51-0 11953898 5460373 44475014
2
Copper Approved Phase 4 7440-50-8 27099
3
Iron Approved Phase 4 7439-89-6 23925
4
Zinc Approved Phase 4 7440-66-6 32051 23994
5
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 2,Phase 3 68-19-9 44176380
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
7
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 3 58-05-9 143 6006
8 Tocopherol Approved, Nutraceutical Phase 4
9
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
10
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
11 Hematinics Phase 4,Phase 2,Phase 3
12 Micronutrients Phase 4,Phase 2,Phase 3
13 Trace Elements Phase 4,Phase 2,Phase 3
14 Vitamin B 12 Phase 4,Phase 2,Phase 3
15 Vitamin B Complex Phase 4,Phase 2,Phase 3
16 Vitamins Phase 4,Phase 2,Phase 3
17 Antioxidants Phase 4
18 Tocopherols Phase 4
19 Tocotrienols Phase 4
20
Cobalamin Nutraceutical Phase 4,Phase 2,Phase 3 13408-78-1 6438156
21 Folate Nutraceutical Phase 4,Phase 2,Phase 3
22
Methylcobalamin Experimental, Nutraceutical Phase 4,Phase 2,Phase 3 13422-55-4
23 Vitamin B12 Nutraceutical Phase 4,Phase 2,Phase 3
24 Vitamin B9 Nutraceutical Phase 4,Phase 2,Phase 3
25 Iron Supplement Nutraceutical Phase 4
26 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
27 Vaccines Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 How Many Patients Are in Need of Vitamin B12 Injections? Unknown status NCT00326833 Phase 4 vitamin B12
2 Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD Recruiting NCT02774057 Phase 4 Captafer®;Iron Sulfate
3 Vitamin B12 Supplementation During Pregnancy Completed NCT01795131 Phase 2, Phase 3

Search NIH Clinical Center for Megaloblastic Anemia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: anemia, megaloblastic

Genetic Tests for Megaloblastic Anemia

Genetic tests related to Megaloblastic Anemia:

id Genetic test Affiliating Genes
1 Megaloblastic Anemia 29

Anatomical Context for Megaloblastic Anemia

MalaCards organs/tissues related to Megaloblastic Anemia:

39
Kidney, Testes, Bone, Bone Marrow, Liver, Neutrophil, Small Intestine

Publications for Megaloblastic Anemia

Articles related to Megaloblastic Anemia:

(show top 50) (show all 449)
id Title Authors Year
1
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report. ( 28504500 )
2017
2
Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation. ( 28076318 )
2017
3
Monogenic diabetes syndromes: Locus-specific databases for AlstrAPm, Wolfram, and Thiamine-responsive megaloblastic anemia. ( 28432734 )
2017
4
Drug-Induced Megaloblastic Anemia. ( 26886542 )
2016
5
Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome. ( 27466740 )
2016
6
Comment: In response to "Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome. ( 27956372 )
2016
7
Comparative Assessment of Vitamin-B12, Folic Acid and Homocysteine Levels in Relation to p53 Expression in Megaloblastic Anemia. ( 27780269 )
2016
8
Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report. ( 27050355 )
2016
9
Comment on: Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report. ( 28112143 )
2016
10
Hepatitis B Leading to Megaloblastic Anemia and Catastrophic Peripheral Thrombocytopenia. ( 28043314 )
2016
11
Drug-Induced Megaloblastic Anemia. ( 26886543 )
2016
12
"Rediscovering arneth count" prevalence of megaloblastic anemia in chronic metformin users. ( 27728103 )
2016
13
Drug-Induced Megaloblastic Anemia. ( 26886541 )
2016
14
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. ( 27707659 )
2016
15
Cutaneous Hyperpigmentation in Megaloblastic Anemia: a Five Year Retrospective Review. ( 27158434 )
2016
16
Clinical profile of megaloblastic anemia in China: a single center experience from MegA-1710 program over two decades. ( 26868126 )
2016
17
Megaloblastic anemia presenting with skin hyperpigmentation. ( 26961325 )
2016
18
Iron deficiency anemia and megaloblastic anemia in obese patients. ( 27648630 )
2016
19
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G. ( 28004468 )
2016
20
Megaloblastic anemia in a teenage patient. ( 26843761 )
2015
21
Two cases of primary cold agglutinin disease associated with megaloblastic anemia. ( 25918651 )
2015
22
Megaloblastic anemia presenting with massive reversible splenomegaly. ( 25825577 )
2015
23
Tremors Following Blood Transfusion in Children with Megaloblastic Anemia. ( 26558920 )
2015
24
Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient. ( 26549656 )
2015
25
Drug-Induced Megaloblastic Anemia. ( 26488695 )
2015
26
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified. ( 25707023 )
2015
27
Megaloblastic anemia with hypotension and transient delirium as the primary symptoms: report of a case. ( 26770511 )
2015
28
Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia. ( 25757096 )
2015
29
Prominent Howell-Jolly bodies when megaloblastic anemia develops in a hyposplenic patient. ( 24764103 )
2014
30
Thiamine responsive megaloblastic anemia: The puzzling phenotype. ( 24249281 )
2014
31
Thiamine-responsive megaloblastic anemia in an Iraqi girl. ( 24676994 )
2014
32
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. ( 24658560 )
2014
33
Diffuse alveolar damage in a patient with Epstein Barr virus (EBV)-positive diffuse large B-cell lymphoma,severely low serum folate, and megaloblastic anemia: a case report of autopsy. ( 24817973 )
2014
34
FUNDUS AUTOFLUORESCENCE AND OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA. ( 25383846 )
2014
35
Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2. ( 24520986 )
2014
36
Leber's Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report. ( 23638917 )
2013
37
Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases. ( 24072090 )
2013
38
Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest. ( 23512295 )
2013
39
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. ( 23289844 )
2013
40
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. ( 23454484 )
2013
41
Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes. ( 24355766 )
2013
42
Pyrexia in a patient with megaloblastic anemia: a case report and literature review. ( 24031113 )
2013
43
Laboratory testing for cobalamin deficiency in megaloblastic anemia. ( 23423840 )
2013
44
Heart failure after transvenous closure of atrial septal defect associated with atrial standstill and thiamine-responsive megaloblastic anemia. ( 24164997 )
2013
45
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. ( 24357267 )
2013
46
Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations. ( 22576805 )
2012
47
Diphyllobothrium pacificum infection is seldom associated with megaloblastic anemia. ( 22987655 )
2012
48
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent. ( 22837935 )
2012
49
A dimorphic blood film as a sign of the onset of iron-deficient erythropoiesis in megaloblastic anemia. ( 22566238 )
2012
50
Clonogenic assays are of limited value in discriminating patients with myelodysplastic syndrome and patients with megaloblastic anemia. ( 22236776 )
2012

Variations for Megaloblastic Anemia

Expression for Megaloblastic Anemia

Search GEO for disease gene expression data for Megaloblastic Anemia.

Pathways for Megaloblastic Anemia

Pathways related to Megaloblastic Anemia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 AMN CUBN DHFR FTCD GIF LMBRD1
2
Show member pathways
12.38 AMN CUBN DHFR GIF LMBRD1 MMADHC
3
Show member pathways
11.99 DHFR FTCD MTHFR MTR MTRR TCN2
4
Show member pathways
11.68 AMN CUBN GIF MMADHC MTR MTRR
5 11.03 CUBN GIF LMBRD1 SLC19A2 TCN2
6 10.92 DHFR MTHFR
7 10.62 AMN CUBN GIF LMBRD1 MMADHC MTR
8
Show member pathways
10.18 MTR MTRR

GO Terms for Megaloblastic Anemia

Cellular components related to Megaloblastic Anemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.46 AMN CUBN GIF TLR9
2 endosome GO:0005768 9.35 AMN CUBN GIF TCN2 TLR9
3 lysosomal lumen GO:0043202 8.8 CUBN GIF TCN2

Biological processes related to Megaloblastic Anemia according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 9.61 AMN CUBN GIF LMBRD1 MMADHC MTR
2 axon regeneration GO:0031103 9.52 DHFR MTR
3 cellular metabolic process GO:0044237 9.51 FTCD MTR
4 tetrahydrofolate interconversion GO:0035999 9.49 FTCD MTHFR
5 tetrahydrofolate metabolic process GO:0046653 9.48 DHFR MTHFR
6 methionine biosynthetic process GO:0009086 9.46 MTR MTRR
7 high-density lipoprotein particle clearance GO:0034384 9.43 AMN CUBN
8 folic acid metabolic process GO:0046655 9.43 DHFR MTHFR MTRR
9 sulfur amino acid metabolic process GO:0000096 9.4 MTR MTRR
10 methionine metabolic process GO:0006555 9.37 MTHFR MTRR
11 cobalt ion transport GO:0006824 9.33 GIF TCN1 TCN2
12 thiamine-containing compound metabolic process GO:0042723 9.32 SLC19A2 TPK1
13 cobalamin transport GO:0015889 9.1 AMN CUBN GIF LMBRD1 TCN1 TCN2
14 transport GO:0006810 10.08 AMN CUBN GIF LMBRD1 SLC19A2 TCN1

Molecular functions related to Megaloblastic Anemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 NADPH binding GO:0070402 9.26 DHFR MTRR
2 folic acid binding GO:0005542 9.16 DHFR FTCD
3 NADP binding GO:0050661 9.13 DHFR MTHFR MTRR
4 cobalamin binding GO:0031419 9.1 CUBN GIF LMBRD1 MTR TCN1 TCN2

Sources for Megaloblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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