MCID: MGL001
MIFTS: 52

Megaloblastic Anemia

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

Aliases & Classifications for Megaloblastic Anemia

MalaCards integrated aliases for Megaloblastic Anemia:

Name: Megaloblastic Anemia 12 72 28 14
Anemia, Megaloblastic 41 69
Megaloblastic Anemia Due to Inborn Errors of Metabolism 69
Recessive Hereditary Megaloblastic Anemia 1 12
Imerslund-Grasbeck Syndrome 12
Grasbeck-Imerslund Syndrome 12
Anemia Megaloblastic 51
Mga1 Norwegian Type 12
Rh-Mga1 12
Igs 12

Classifications:



Summaries for Megaloblastic Anemia

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

MalaCards based summary : Megaloblastic Anemia, also known as anemia, megaloblastic, is related to megaloblastic anemia 1 and congenital intrinsic factor deficiency. 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 bone marrow, testes and bone.

Wikipedia : 72 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...

Related Diseases for Megaloblastic Anemia

Diseases in the Megaloblastic Anemia family:

Megaloblastic Anemia 1

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

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 megaloblastic anemia 1 34.3 AMN CUBN GIF
2 congenital intrinsic factor deficiency 33.0 AMN CUBN GIF
3 3-methylglutaconic aciduria, type i 32.0 AMN CUBN
4 homocysteinemia 31.4 MTHFR MTR MTRR
5 homocystinuria 31.0 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
6 pernicious anemia 30.1 GIF TCN1 TCN2
7 transcobalamin ii deficiency 29.7 DHFR GIF LMBRD1 MMADHC MTHFR MTR
8 vitamin b12 deficiency 29.4 GIF MTHFR MTR TCN1 TCN2
9 thiamine-responsive megaloblastic anemia syndrome 12.7
10 homocystinuria-megaloblastic anemia, cblg complementation type 12.6
11 megaloblastic anemia due to dihydrofolate reductase deficiency 12.6
12 hyper-ige recurrent infection syndrome, autosomal dominant 12.5
13 homocystinuria-megaloblastic anemia, cble complementation type 12.5
14 hyper ige syndrome 12.3
15 hyper-ige recurrent infection syndrome, autosomal recessive 12.3
16 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12.2
17 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.2
18 congenital disorder of glycosylation, type ig 12.2
19 ige responsiveness, atopic 12.1
20 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.1
21 amelogenesis imperfecta, type ig 12.1
22 usher syndrome, type ig 11.9
23 selective ige deficiency disease 11.9
24 immunodeficiency 35 11.9
25 amelogenesis imperfecta hypoplastic type, ig 11.8
26 acquired monoclonal ig light chain-associated fanconi syndrome 11.8
27 epilepsy, idiopathic generalized 11.8
28 netherton syndrome 11.8
29 alg12-congenital disorder of glycosylation 11.6
30 intrinsic factor deficiency 11.6
31 orotic aciduria 11.6
32 folate malabsorption, hereditary 11.3
33 atrophic gastritis 11.3
34 lubani-al saleh-teebi syndrome 11.3
35 glutamate formiminotransferase deficiency 11.2
36 anemia, congenital dyserythropoietic, type iii 11.1
37 folic acid deficiency anemia 11.0
38 methylmalonic aciduria and homocystinuria, cblf type 11.0
39 methylmalonic aciduria and homocystinuria, cbld type 11.0
40 lesch-nyhan syndrome 11.0
41 methylmalonic acidemia with homocystinuria 11.0
42 vitamin b12-responsive methylmalonic acidemia 11.0
43 methylmalonic aciduria and homocystinuria type cble 10.5 MTR MTRR
44 methylmalonic aciduria and homocystinuria type cblg 10.5 MTR MTRR
45 iron metabolism disease 10.2
46 upper thoracic spina bifida cystica 10.2 MTHFD1 MTHFR
47 cervicothoracic spina bifida cystica 10.2 MTHFD1 MTHFR
48 cervical spina bifida cystica 10.2 MTHFD1 MTHFR
49 lumbosacral spina bifida cystica 10.2 MTHFD1 MTHFR
50 thoracolumbosacral spina bifida cystica 10.2 MTHFD1 MTHFR

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 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 4,Phase 2,Phase 3 13422-51-0 5460373 44475014 11953898
2
Copper Approved, Investigational Phase 4 7440-50-8 27099
3
Iron Approved Phase 4 7439-89-6 23925
4
Zinc Approved, Investigational 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
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 4,Phase 2,Phase 3 13422-55-4
8
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 3 58-05-9 143 6006
9
Pyridoxal Approved, Nutraceutical Phase 4 66-72-8 1050
10
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
11
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
12 Tocopherol Approved, Investigational, Nutraceutical Phase 4
13
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 54670067 5785
14
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
15 Hematinics Phase 4,Phase 2,Phase 3
16 Micronutrients Phase 4,Phase 2,Phase 3
17 Trace Elements Phase 4,Phase 2,Phase 3
18 Vitamin B 12 Phase 4,Phase 2,Phase 3
19 Vitamin B Complex Phase 4,Phase 2,Phase 3
20 Vitamins Phase 4,Phase 2,Phase 3
21 Vitamin B 6 Phase 4
22 Antioxidants Phase 4
23 Tocopherols Phase 4
24 Tocotrienols Phase 4
25
Cobalamin Nutraceutical Phase 4,Phase 2,Phase 3 13408-78-1 6438156
26 Folate Nutraceutical Phase 4,Phase 2,Phase 3
27 Vitamin B12 Nutraceutical Phase 4,Phase 2,Phase 3
28 Vitamin B9 Nutraceutical Phase 4,Phase 2,Phase 3
29 Thiamin Nutraceutical Phase 4
30 Iron Supplement Nutraceutical Phase 4
31 Tocotrienol Investigational, Nutraceutical Phase 4 6829-55-6
32 Vaccines Phase 2, Phase 3

Interventional clinical trials:


# 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 Megadose of Hydroxocobalamin for the Treatment of Pernicious Anemia Recruiting NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg
3 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
4 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 47 :


Cochrane evidence based reviews: anemia, megaloblastic

Genetic Tests for Megaloblastic Anemia

Genetic tests related to Megaloblastic Anemia:

# Genetic test Affiliating Genes
1 Megaloblastic Anemia 28

Anatomical Context for Megaloblastic Anemia

MalaCards organs/tissues related to Megaloblastic Anemia:

38
Bone Marrow, Testes, Bone, Liver, Neutrophil, Small Intestine, Myeloid

Publications for Megaloblastic Anemia

Articles related to Megaloblastic Anemia:

(show top 50) (show all 452)
# Title Authors Year
1
Unmethylated promoter DNA correlates with p53 expression and apoptotic levels only in Vitamin B9 and B12 deficient megaloblastic anemia but not in non-megaloblastic anemia controls. ( 29246873 )
2018
2
Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation. ( 28076318 )
2017
3
LONG-TERM MULTIMODAL IMAGING OF OCULAR FINDINGS ASSOCIATED WITH THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA. ( 29210962 )
2017
4
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report. ( 28504500 )
2017
5
Leukemoid reaction in megaloblastic anemia of the puerperium: An unusual cause. ( 29417043 )
2017
6
Monogenic diabetes syndromes: Locus-specific databases for AlstrAPm, Wolfram, and Thiamine-responsive megaloblastic anemia. ( 28432734 )
2017
7
Megaloblastic anemia presenting with skin hyperpigmentation. ( 26961325 )
2016
8
"Rediscovering arneth count" prevalence of megaloblastic anemia in chronic metformin users. ( 27728103 )
2016
9
Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome. ( 27466740 )
2016
10
Drug-Induced Megaloblastic Anemia. ( 26886543 )
2016
11
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
12
Cutaneous Hyperpigmentation in Megaloblastic Anemia: a Five Year Retrospective Review. ( 27158434 )
2016
13
Drug-Induced Megaloblastic Anemia. ( 26886542 )
2016
14
Comment: In response to "Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome. ( 27956372 )
2016
15
Clinical profile of megaloblastic anemia in China: a single center experience from MegA-1710 program over two decades. ( 26868126 )
2016
16
Iron deficiency anemia and megaloblastic anemia in obese patients. ( 27648630 )
2016
17
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. ( 27707659 )
2016
18
Hepatitis B Leading to Megaloblastic Anemia and Catastrophic Peripheral Thrombocytopenia. ( 28043314 )
2016
19
Drug-Induced Megaloblastic Anemia. ( 26886541 )
2016
20
Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report. ( 27050355 )
2016
21
Comparative Assessment of Vitamin-B12, Folic Acid and Homocysteine Levels in Relation to p53 Expression in Megaloblastic Anemia. ( 27780269 )
2016
22
Comment on: Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report. ( 28112143 )
2016
23
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified. ( 25707023 )
2015
24
Tremors Following Blood Transfusion in Children with Megaloblastic Anemia. ( 26558920 )
2015
25
Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient. ( 26549656 )
2015
26
Megaloblastic anemia in a teenage patient. ( 26843761 )
2015
27
Drug-Induced Megaloblastic Anemia. ( 26488695 )
2015
28
Megaloblastic anemia presenting with massive reversible splenomegaly. ( 25825577 )
2015
29
Two cases of primary cold agglutinin disease associated with megaloblastic anemia. ( 25918651 )
2015
30
Megaloblastic anemia with hypotension and transient delirium as the primary symptoms: report of a case. ( 26770511 )
2015
31
Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia. ( 25757096 )
2015
32
Thiamine-responsive megaloblastic anemia in an Iraqi girl. ( 24676994 )
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
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. ( 24658560 )
2014
35
FUNDUS AUTOFLUORESCENCE AND OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA. ( 25383846 )
2014
36
Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2. ( 24520986 )
2014
37
Thiamine responsive megaloblastic anemia: The puzzling phenotype. ( 24249281 )
2014
38
Prominent Howell-Jolly bodies when megaloblastic anemia develops in a hyposplenic patient. ( 24764103 )
2014
39
Heart failure after transvenous closure of atrial septal defect associated with atrial standstill and thiamine-responsive megaloblastic anemia. ( 24164997 )
2013
40
Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes. ( 24355766 )
2013
41
Laboratory testing for cobalamin deficiency in megaloblastic anemia. ( 23423840 )
2013
42
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. ( 23289844 )
2013
43
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. ( 24357267 )
2013
44
Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases. ( 24072090 )
2013
45
Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest. ( 23512295 )
2013
46
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. ( 23454484 )
2013
47
Pyrexia in a patient with megaloblastic anemia: a case report and literature review. ( 24031113 )
2013
48
Leber's Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report. ( 23638917 )
2013
49
Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations. ( 22576805 )
2012
50
Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent. ( 22837935 )
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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 AMN CUBN DHFR FTCD GIF LMBRD1
2
Show member pathways
12.41 AMN CUBN DHFR GIF LMBRD1 MMADHC
3
Show member pathways
12.14 CUBN DHFR GIF MTHFD1 MTHFR MTR
4
Show member pathways
12.06 DHFR FTCD MTHFD1 MTHFR MTR MTRR
5
Show member pathways
11.85 AMN CUBN GIF MMADHC MTR MTRR
6
Show member pathways
11.8 DHFR MTHFR UMPS
7 11.18 CUBN GIF LMBRD1 SLC19A2 TCN2
8 11 DHFR MTHFR
9 10.62 AMN CUBN GIF LMBRD1 MMADHC MTR
10
Show member pathways
10.45 AMN CUBN GIF
11
Show member pathways
10.26 MTR MTRR
12 10.16 FTCD MTHFD1

GO Terms for Megaloblastic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.8 CUBN GIF TCN2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.95 DHFR MT-CO1 MTHFD1 MTHFR MTRR
2 cellular amino acid biosynthetic process GO:0008652 9.61 MTHFD1 MTR MTRR
3 tetrahydrofolate interconversion GO:0035999 9.58 FTCD MTHFD1 MTHFR
4 one-carbon metabolic process GO:0006730 9.57 DHFR MTHFD1
5 axon regeneration GO:0031103 9.54 DHFR MTR
6 methionine biosynthetic process GO:0009086 9.54 MTHFD1 MTR MTRR
7 cellular metabolic process GO:0044237 9.52 FTCD MTR
8 tetrahydrofolate metabolic process GO:0046653 9.51 DHFR MTHFR
9 methionine metabolic process GO:0006555 9.5 MTHFD1 MTHFR MTRR
10 high-density lipoprotein particle clearance GO:0034384 9.49 AMN CUBN
11 sulfur amino acid metabolic process GO:0000096 9.48 MTR MTRR
12 thiamine-containing compound metabolic process GO:0042723 9.46 SLC19A2 TPK1
13 folic acid metabolic process GO:0046655 9.46 DHFR MTHFD1 MTHFR MTRR
14 cobalt ion transport GO:0006824 9.43 GIF TCN1 TCN2
15 cobalamin transport GO:0015889 9.35 AMN CUBN GIF TCN1 TCN2
16 cobalamin metabolic process GO:0009235 9.28 AMN CUBN GIF LMBRD1 MMADHC MTR
17 transport GO:0006810 10.1 AMN CUBN GIF LMBRD1 SLC19A2 TCN1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 DHFR MT-CO1 MTHFD1 MTHFR MTRR
2 NADPH binding GO:0070402 9.32 DHFR MTRR
3 folic acid binding GO:0005542 9.16 DHFR FTCD
4 NADP binding GO:0050661 9.13 DHFR MTHFR MTRR
5 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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