IGS
MCID: MGL001
MIFTS: 50

Megaloblastic Anemia (IGS) malady

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

Aliases & Classifications for Megaloblastic Anemia

Aliases & Descriptions 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 homocystinuria. An important gene associated with Megaloblastic Anemia is CUBN (Cubilin), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. 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 : 71 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 226)
id Related Disease Score Top Affiliating Genes
1 congenital intrinsic factor deficiency 32.3 CD79A GIF MTHFR MTR TCN2
2 homocystinuria 31.9 CD40LG CD79A HP
3 endocarditis 29.7 CD40LG CD79A
4 thiamine-responsive megaloblastic anemia syndrome 12.6
5 hyper-ige recurrent infection syndrome 12.4
6 homocystinuria-megaloblastic anemia, cbl e type 12.3
7 megaloblastic anemia due to dihydrofolate reductase deficiency 12.3
8 homocystinuria-megaloblastic anemia, cblg complementation type 12.3
9 hyper-ige recurrent infection syndrome, autosomal recessive 12.2
10 hyper ige syndrome 12.2
11 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige 12.1
12 congenital disorder of glycosylation, type ig 12.0
13 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.0
14 amelogenesis imperfecta, type ig 12.0
15 megaloblastic anemia-1, finnish type 11.8
16 selective ige deficiency disease 11.8
17 amelogenesis imperfecta hypoplastic type, ig 11.7
18 acquired monoclonal ig light chain-associated fanconi syndrome 11.7
19 immunodeficiency 35 11.6
20 intrinsic factor deficiency 11.5
21 orotic aciduria 11.5
22 alg12-congenital disorder of glycosylation 11.4
23 immunodeficiency 23 11.3
24 iminoglycinuria, digenic 11.3
25 common variable immunodeficiency 11.3
26 idiopathic generalized epilepsy 11.3
27 transcobalamin ii deficiency 11.2
28 atrophic gastritis 11.2
29 asthma 11.2
30 netherton syndrome 11.2
31 lubani-al saleh-teebi syndrome 11.1
32 atopy 11.1
33 glutamate formiminotransferase deficiency 11.1
34 allergic asthma 11.1
35 usher syndrome, type 1g 10.9
36 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.9
37 folic acid deficiency anemia 10.9
38 3-methylglutaconic aciduria, type i 10.9
39 immunodeficiency with hyper-igm, type 2 10.9
40 immunodeficiency with hyper igm, type 5 10.9
41 immunodeficiency, x-linked, with hyper-igm 10.9
42 methylmalonic acidemia with homocystinuria 10.9
43 folate malabsorption, hereditary 10.9
44 lesch-nyhan syndrome 10.9
45 methylmalonic aciduria and homocystinuria, cblf type 10.9
46 methylmalonic aciduria and homocystinuria, cbld type 10.9
47 nephrotic syndrome, type 7 10.8
48 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 10.8
49 cd40 ligand deficiency 10.8
50 asthma susceptibility 5 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 15158-11-9, 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 54575, 6560146 143
8
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
10 Hematinics Phase 4,Phase 2,Phase 3
11 Micronutrients Phase 4,Phase 2,Phase 3
12 Trace Elements Phase 4,Phase 2,Phase 3
13 Vitamin B 12 Phase 4,Phase 2,Phase 3
14 Vitamin B Complex Phase 4,Phase 2,Phase 3
15 Vitamins Phase 4,Phase 2,Phase 3
16 Antioxidants Phase 4
17 Tocopherols Phase 4
18 Tocotrienols Phase 4
19
Cobalamin Nutraceutical Phase 4,Phase 2,Phase 3 13408-78-1 6438156
20 Folate Nutraceutical Phase 4,Phase 2,Phase 3
21
Methylcobalamin Experimental, Nutraceutical Phase 4,Phase 2,Phase 3 13422-55-4
22 Vitamin B12 Nutraceutical Phase 4,Phase 2,Phase 3
23 Vitamin B9 Nutraceutical Phase 4,Phase 2,Phase 3
24 Iron Supplement Nutraceutical Phase 4
25 Tocopherol Nutraceutical Phase 4
26 Tocotrienol Nutraceutical Phase 4
27 Vaccines Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 How Many Patients Are in Need of Vitamin B12 Injections? Unknown status NCT00326833 Phase 4
2 Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD Recruiting NCT02774057 Phase 4
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 447)
id Title Authors Year
1
Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation. ( 28076318 )
2017
2
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report. ( 28504500 )
2017
3
Comment: In response to "Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome. ( 27956372 )
2016
4
Drug-Induced Megaloblastic Anemia. ( 26886542 )
2016
5
Hepatitis B Leading to Megaloblastic Anemia and Catastrophic Peripheral Thrombocytopenia. ( 28043314 )
2016
6
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
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
Iron deficiency anemia and megaloblastic anemia in obese patients. ( 27648630 )
2016
11
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. ( 27707659 )
2016
12
Drug-Induced Megaloblastic Anemia. ( 26886541 )
2016
13
Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report. ( 27050355 )
2016
14
Clinical profile of megaloblastic anemia in China: a single center experience from MegA-1710 program over two decades. ( 26868126 )
2016
15
Comparative Assessment of Vitamin-B12, Folic Acid and Homocysteine Levels in Relation to p53 Expression in Megaloblastic Anemia. ( 27780269 )
2016
16
Cutaneous Hyperpigmentation in Megaloblastic Anemia: a Five Year Retrospective Review. ( 27158434 )
2016
17
Drug-Induced Megaloblastic Anemia. ( 26886543 )
2016
18
Drug-Induced Megaloblastic Anemia. ( 26488695 )
2015
19
Megaloblastic anemia with hypotension and transient delirium as the primary symptoms: report of a case. ( 26770511 )
2015
20
Two cases of primary cold agglutinin disease associated with megaloblastic anemia. ( 25918651 )
2015
21
Megaloblastic anemia in a teenage patient. ( 26843761 )
2015
22
Tremors Following Blood Transfusion in Children with Megaloblastic Anemia. ( 26558920 )
2015
23
Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia. ( 25757096 )
2015
24
Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient. ( 26549656 )
2015
25
Megaloblastic anemia presenting with massive reversible splenomegaly. ( 25825577 )
2015
26
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified. ( 25707023 )
2015
27
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. ( 24658560 )
2014
28
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
29
Thiamine-responsive megaloblastic anemia in an Iraqi girl. ( 24676994 )
2014
30
Prominent Howell-Jolly bodies when megaloblastic anemia develops in a hyposplenic patient. ( 24764103 )
2014
31
FUNDUS AUTOFLUORESCENCE AND OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA. ( 25383846 )
2014
32
Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2. ( 24520986 )
2014
33
Thiamine responsive megaloblastic anemia: The puzzling phenotype. ( 24249281 )
2014
34
Heart failure after transvenous closure of atrial septal defect associated with atrial standstill and thiamine-responsive megaloblastic anemia. ( 24164997 )
2013
35
Laboratory testing for cobalamin deficiency in megaloblastic anemia. ( 23423840 )
2013
36
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. ( 23289844 )
2013
37
Leber's Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report. ( 23638917 )
2013
38
Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest. ( 23512295 )
2013
39
Pyrexia in a patient with megaloblastic anemia: a case report and literature review. ( 24031113 )
2013
40
Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases. ( 24072090 )
2013
41
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. ( 24357267 )
2013
42
Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes. ( 24355766 )
2013
43
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. ( 23454484 )
2013
44
Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations. ( 22576805 )
2012
45
A dimorphic blood film as a sign of the onset of iron-deficient erythropoiesis in megaloblastic anemia. ( 22566238 )
2012
46
Clonogenic assays are of limited value in discriminating patients with myelodysplastic syndrome and patients with megaloblastic anemia. ( 22236776 )
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
Thiamine-responsive megaloblastic anemia syndrome: a novel mutation. ( 22876572 )
2012
50
Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency. ( 21388369 )
2011

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
12.26 AMN CUBN DHFR GIF MTHFR MTR
2
Show member pathways
12.13 CUBN DHFR GIF MTHFR MTR MTRR
3
Show member pathways
11.95 DHFR MTHFR MTR MTRR TCN2
4
Show member pathways
11.62 AMN CUBN GIF MTR MTRR TCN2
5 11 CUBN GIF SLC19A2 TCN2
6 10.44 AMN CUBN GIF MTR MTRR TCN2
7
Show member pathways
10.39 AMN CUBN GIF
8
Show member pathways
10.21 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 extracellular space GO:0005615 9.7 AMN CD40LG GIF HP PIGR TCN2
2 endosome GO:0005768 9.65 AMN CUBN GIF TCN2 TFRC
3 lysosomal lumen GO:0043202 9.13 CUBN GIF TCN2
4 clathrin-coated pit GO:0005905 8.8 AMN CUBN TFRC

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.73 AMN CUBN HP TFRC
2 axon regeneration GO:0031103 9.51 DHFR MTR
3 tetrahydrofolate metabolic process GO:0046653 9.49 DHFR MTHFR
4 methionine biosynthetic process GO:0009086 9.48 MTR MTRR
5 high-density lipoprotein particle clearance GO:0034384 9.46 AMN CUBN
6 sulfur amino acid metabolic process GO:0000096 9.4 MTR MTRR
7 methionine metabolic process GO:0006555 9.37 MTHFR MTRR
8 folic acid metabolic process GO:0046655 9.33 DHFR MTHFR MTRR
9 cobalt ion transport GO:0006824 9.32 GIF TCN2
10 thiamine-containing compound metabolic process GO:0042723 9.26 SLC19A2 TPK1
11 cobalamin transport GO:0015889 9.26 AMN CUBN GIF TCN2
12 cobalamin metabolic process GO:0009235 9.1 AMN CUBN GIF MTR MTRR TCN2

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 9.16 DHFR MTRR
2 NADP binding GO:0050661 9.13 DHFR MTHFR MTRR
3 cobalamin binding GO:0031419 8.92 CUBN GIF MTR 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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