MCID: MGL001
MIFTS: 51

Megaloblastic Anemia

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

Aliases & Classifications for Megaloblastic Anemia

MalaCards integrated aliases for Megaloblastic Anemia:

Name: Megaloblastic Anemia 12 76 29 6 15
Anemia, Megaloblastic 44 73
Megaloblastic Anemia Due to Inborn Errors of Metabolism 73
Recessive Hereditary Megaloblastic Anemia 1 12
Imerslund-Grasbeck Syndrome 12
Grasbeck-Imerslund Syndrome 12
Anemia Megaloblastic 55
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 AMN (Amnion Associated Transmembrane Protein), 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 : 76 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 144)
# Related Disease Score Top Affiliating Genes
1 megaloblastic anemia 1 34.7 AMN CUBN GIF
2 congenital intrinsic factor deficiency 33.4 AMN CUBN GIF
3 3-methylglutaconic aciduria, type i 32.4 AMN CUBN
4 homocysteinemia 31.4 MTHFR MTR MTRR
5 homocystinuria 30.3 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
6 pernicious anemia 30.2 GIF TCN1 TCN2
7 vitamin b12 deficiency 28.5 AMN GIF MTHFR MTR TCN1 TCN2
8 transcobalamin ii deficiency 28.2 DHFR GIF LMBRD1 MMADHC MTHFR MTR
9 thiamine-responsive megaloblastic anemia syndrome 12.7
10 megaloblastic anemia due to dihydrofolate reductase deficiency 12.6
11 homocystinuria-megaloblastic anemia, cblg complementation type 12.6
12 hyper-ige recurrent infection syndrome, autosomal dominant 12.5
13 homocystinuria-megaloblastic anemia, cble complementation type 12.5
14 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12.3
15 hyper ige syndrome 12.3
16 hyper-ige recurrent infection syndrome, autosomal recessive 12.3
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 12.2
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 11.8
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 10.8 MTR MTRR
44 methylmalonic aciduria and homocystinuria type cblg 10.7 MTR MTRR
45 upper thoracic spina bifida cystica 10.4 MTHFD1 MTHFR
46 cervicothoracic spina bifida cystica 10.4 MTHFD1 MTHFR
47 cervical spina bifida cystica 10.4 MTHFD1 MTHFR
48 lumbosacral spina bifida cystica 10.4 MTHFD1 MTHFR
49 thoracolumbosacral spina bifida cystica 10.3 MTHFD1 MTHFR
50 total spina bifida cystica 10.3 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 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 4,Phase 2,Phase 3 13422-51-0 11953898 44475014
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 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, 70-16-6 1130
12
Tocopherol Approved, Investigational, Nutraceutical Phase 4 1406-66-2 14986
13
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
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
33
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
34
Metformin Approved Phase 2 657-24-9 14219 4091
35 tannic acid Approved, Nutraceutical Phase 2
36 Hypoglycemic Agents Phase 2

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
5 Metformin for the Minimization of Geographic Atrophy Progression in Patients With AMD Recruiting NCT02684578 Phase 2 Metformin
6 Nutritional Safety and Metabolic Benefits of Oncometabolic Surgery for Obese Gastric Cancer Patients Active, not recruiting NCT03067012 Not Applicable

Search NIH Clinical Center for Megaloblastic Anemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: anemia, megaloblastic

Genetic Tests for Megaloblastic Anemia

Genetic tests related to Megaloblastic Anemia:

# Genetic test Affiliating Genes
1 Megaloblastic Anemia 29

Anatomical Context for Megaloblastic Anemia

MalaCards organs/tissues related to Megaloblastic Anemia:

41
Bone Marrow, Testes, Bone, Liver, Neutrophil, Small Intestine, Myeloid

Publications for Megaloblastic Anemia

Articles related to Megaloblastic Anemia:

(show top 50) (show all 461)
# Title Authors Year
1
A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia. ( 29969779 )
2018
2
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
3
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report. ( 28504500 )
2017
4
Monogenic diabetes syndromes: Locus-specific databases for AlstrAPm, Wolfram, and Thiamine-responsive megaloblastic anemia. ( 28432734 )
2017
5
LONG-TERM MULTIMODAL IMAGING OF OCULAR FINDINGS ASSOCIATED WITH THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA. ( 29210962 )
2017
6
Leukemoid reaction in megaloblastic anemia of the puerperium: An unusual cause. ( 29417043 )
2017
7
Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation. ( 28076318 )
2017
8
"Rediscovering arneth count" prevalence of megaloblastic anemia in chronic metformin users. ( 27728103 )
2016
9
Iron deficiency anemia and megaloblastic anemia in obese patients. ( 27648630 )
2016
10
Clinical profile of megaloblastic anemia in China: a single center experience from MegA-1710 program over two decades. ( 26868126 )
2016
11
Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome. ( 27466740 )
2016
12
Drug-Induced Megaloblastic Anemia. ( 26886542 )
2016
13
Comment on: Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report. ( 28112143 )
2016
14
Comparative Assessment of Vitamin-B12, Folic Acid and Homocysteine Levels in Relation to p53 Expression in Megaloblastic Anemia. ( 27780269 )
2016
15
Drug-Induced Megaloblastic Anemia. ( 26886541 )
2016
16
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
17
Drug-Induced Megaloblastic Anemia. ( 26886543 )
2016
18
Comment: In response to "Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome. ( 27956372 )
2016
19
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. ( 27707659 )
2016
20
[Maternal Crohn's disease-related vitamin B12 deficient megaloblastic anemia in an infant]. ( 26861098 )
2016
21
Cutaneous Hyperpigmentation in Megaloblastic Anemia: a Five Year Retrospective Review. ( 27158434 )
2016
22
Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report. ( 27050355 )
2016
23
Hepatitis B Leading to Megaloblastic Anemia and Catastrophic Peripheral Thrombocytopenia. ( 28043314 )
2016
24
Megaloblastic anemia presenting with skin hyperpigmentation. ( 26961325 )
2016
25
Tremors Following Blood Transfusion in Children with Megaloblastic Anemia. ( 26558920 )
2015
26
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified. ( 25707023 )
2015
27
Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient. ( 26549656 )
2015
28
Megaloblastic anemia in a teenage patient. ( 26843761 )
2015
29
Drug-Induced Megaloblastic Anemia. ( 26488695 )
2015
30
Megaloblastic anemia with hypotension and transient delirium as the primary symptoms: report of a case. ( 26770511 )
2015
31
Megaloblastic anemia presenting with massive reversible splenomegaly. ( 25825577 )
2015
32
Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia. ( 25757096 )
2015
33
Two cases of primary cold agglutinin disease associated with megaloblastic anemia. ( 25918651 )
2015
34
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. ( 24658560 )
2014
35
Thiamine-responsive megaloblastic anemia in an Iraqi girl. ( 24676994 )
2014
36
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
37
FUNDUS AUTOFLUORESCENCE AND OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA. ( 25383846 )
2014
38
Thiamine responsive megaloblastic anemia: The puzzling phenotype. ( 24249281 )
2014
39
Prominent Howell-Jolly bodies when megaloblastic anemia develops in a hyposplenic patient. ( 24764103 )
2014
40
Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2. ( 24520986 )
2014
41
Leber's Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report. ( 23638917 )
2013
42
Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases. ( 24072090 )
2013
43
Pyrexia in a patient with megaloblastic anemia: a case report and literature review. ( 24031113 )
2013
44
Laboratory testing for cobalamin deficiency in megaloblastic anemia. ( 23423840 )
2013
45
Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes. ( 24355766 )
2013
46
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. ( 23289844 )
2013
47
[Expression characteristics of differentiation antigens on granulocytes in patients with megaloblastic anemia]. ( 23998595 )
2013
48
Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest. ( 23512295 )
2013
49
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. ( 24357267 )
2013
50
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. ( 23454484 )
2013

Variations for Megaloblastic Anemia

ClinVar genetic disease variations for Megaloblastic Anemia:

6
(show top 50) (show all 462)
# Gene Variation Type Significance SNP ID Assembly Location
1 CUBN NM_001081.3(CUBN): c.10641G> A (p.Arg3547=) single nucleotide variant Uncertain significance rs145909413 GRCh37 Chromosome 10, 16870927: 16870927
2 CUBN NM_001081.3(CUBN): c.10641G> A (p.Arg3547=) single nucleotide variant Uncertain significance rs145909413 GRCh38 Chromosome 10, 16828928: 16828928
3 CUBN NM_001081.3(CUBN): c.*794A> G single nucleotide variant Uncertain significance rs886046852 GRCh37 Chromosome 10, 16866180: 16866180
4 CUBN NM_001081.3(CUBN): c.*794A> G single nucleotide variant Uncertain significance rs886046852 GRCh38 Chromosome 10, 16824181: 16824181
5 CUBN NM_001081.3(CUBN): c.*781C> T single nucleotide variant Likely benign rs115080396 GRCh37 Chromosome 10, 16866193: 16866193
6 CUBN NM_001081.3(CUBN): c.*781C> T single nucleotide variant Likely benign rs115080396 GRCh38 Chromosome 10, 16824194: 16824194
7 CUBN NM_001081.3(CUBN): c.*734A> G single nucleotide variant Uncertain significance rs751683958 GRCh37 Chromosome 10, 16866240: 16866240
8 CUBN NM_001081.3(CUBN): c.*734A> G single nucleotide variant Uncertain significance rs751683958 GRCh38 Chromosome 10, 16824241: 16824241
9 CUBN NM_001081.3(CUBN): c.*436C> A single nucleotide variant Uncertain significance rs574512019 GRCh38 Chromosome 10, 16824539: 16824539
10 CUBN NM_001081.3(CUBN): c.*436C> A single nucleotide variant Uncertain significance rs574512019 GRCh37 Chromosome 10, 16866538: 16866538
11 CUBN NM_001081.3(CUBN): c.*330G> C single nucleotide variant Uncertain significance rs181630914 GRCh37 Chromosome 10, 16866644: 16866644
12 CUBN NM_001081.3(CUBN): c.*330G> C single nucleotide variant Uncertain significance rs181630914 GRCh38 Chromosome 10, 16824645: 16824645
13 CUBN NM_001081.3(CUBN): c.*305T> G single nucleotide variant Likely benign rs143326344 GRCh37 Chromosome 10, 16866669: 16866669
14 CUBN NM_001081.3(CUBN): c.*305T> G single nucleotide variant Likely benign rs143326344 GRCh38 Chromosome 10, 16824670: 16824670
15 CUBN NM_001081.3(CUBN): c.*266C> T single nucleotide variant Uncertain significance rs374059721 GRCh37 Chromosome 10, 16866708: 16866708
16 CUBN NM_001081.3(CUBN): c.*266C> T single nucleotide variant Uncertain significance rs374059721 GRCh38 Chromosome 10, 16824709: 16824709
17 CUBN NM_001081.3(CUBN): c.*203C> T single nucleotide variant Uncertain significance rs769041830 GRCh37 Chromosome 10, 16866771: 16866771
18 CUBN NM_001081.3(CUBN): c.*203C> T single nucleotide variant Uncertain significance rs769041830 GRCh38 Chromosome 10, 16824772: 16824772
19 CUBN NM_001081.3(CUBN): c.*162G> A single nucleotide variant Uncertain significance rs558891678 GRCh37 Chromosome 10, 16866812: 16866812
20 CUBN NM_001081.3(CUBN): c.*162G> A single nucleotide variant Uncertain significance rs558891678 GRCh38 Chromosome 10, 16824813: 16824813
21 CUBN NM_001081.3(CUBN): c.*151G> A single nucleotide variant Likely benign rs76742384 GRCh37 Chromosome 10, 16866823: 16866823
22 CUBN NM_001081.3(CUBN): c.*151G> A single nucleotide variant Likely benign rs76742384 GRCh38 Chromosome 10, 16824824: 16824824
23 CUBN NM_001081.3(CUBN): c.*93C> A single nucleotide variant Likely benign rs111644764 GRCh37 Chromosome 10, 16866881: 16866881
24 CUBN NM_001081.3(CUBN): c.*93C> A single nucleotide variant Likely benign rs111644764 GRCh38 Chromosome 10, 16824882: 16824882
25 CUBN NM_001081.3(CUBN): c.*45C> T single nucleotide variant Likely benign rs7085076 GRCh37 Chromosome 10, 16866929: 16866929
26 CUBN NM_001081.3(CUBN): c.*45C> T single nucleotide variant Likely benign rs7085076 GRCh38 Chromosome 10, 16824930: 16824930
27 CUBN NM_001081.3(CUBN): c.10383C> T (p.Ser3461=) single nucleotide variant Conflicting interpretations of pathogenicity rs141937843 GRCh37 Chromosome 10, 16873396: 16873396
28 CUBN NM_001081.3(CUBN): c.10383C> T (p.Ser3461=) single nucleotide variant Conflicting interpretations of pathogenicity rs141937843 GRCh38 Chromosome 10, 16831397: 16831397
29 CUBN NM_001081.3(CUBN): c.10267G> A (p.Val3423Ile) single nucleotide variant Uncertain significance rs145872906 GRCh37 Chromosome 10, 16877108: 16877108
30 CUBN NM_001081.3(CUBN): c.10267G> A (p.Val3423Ile) single nucleotide variant Uncertain significance rs145872906 GRCh38 Chromosome 10, 16835109: 16835109
31 CUBN NM_001081.3(CUBN): c.10265C> T (p.Thr3422Ile) single nucleotide variant Benign/Likely benign rs1801230 GRCh37 Chromosome 10, 16877110: 16877110
32 CUBN NM_001081.3(CUBN): c.10265C> T (p.Thr3422Ile) single nucleotide variant Benign/Likely benign rs1801230 GRCh38 Chromosome 10, 16835111: 16835111
33 CUBN NM_001081.3(CUBN): c.10245C> T (p.Tyr3415=) single nucleotide variant Uncertain significance rs147730705 GRCh37 Chromosome 10, 16877130: 16877130
34 CUBN NM_001081.3(CUBN): c.10245C> T (p.Tyr3415=) single nucleotide variant Uncertain significance rs147730705 GRCh38 Chromosome 10, 16835131: 16835131
35 CUBN NM_001081.3(CUBN): c.10181-14A> G single nucleotide variant Uncertain significance rs886046864 GRCh37 Chromosome 10, 16877208: 16877208
36 CUBN NM_001081.3(CUBN): c.10181-14A> G single nucleotide variant Uncertain significance rs886046864 GRCh38 Chromosome 10, 16835209: 16835209
37 CUBN NM_001081.3(CUBN): c.10076C> T (p.Ser3359Leu) single nucleotide variant Uncertain significance rs140566726 GRCh37 Chromosome 10, 16878338: 16878338
38 CUBN NM_001081.3(CUBN): c.10076C> T (p.Ser3359Leu) single nucleotide variant Uncertain significance rs140566726 GRCh38 Chromosome 10, 16836339: 16836339
39 CUBN NM_001081.3(CUBN): c.10039G> A (p.Gly3347Arg) single nucleotide variant Benign/Likely benign rs146027947 GRCh37 Chromosome 10, 16878375: 16878375
40 CUBN NM_001081.3(CUBN): c.10039G> A (p.Gly3347Arg) single nucleotide variant Benign/Likely benign rs146027947 GRCh38 Chromosome 10, 16836376: 16836376
41 CUBN NM_001081.3(CUBN): c.9714T> C (p.Gly3238=) single nucleotide variant Uncertain significance rs141513734 GRCh37 Chromosome 10, 16882996: 16882996
42 CUBN NM_001081.3(CUBN): c.9714T> C (p.Gly3238=) single nucleotide variant Uncertain significance rs141513734 GRCh38 Chromosome 10, 16840997: 16840997
43 CUBN NM_001081.3(CUBN): c.9061G> A (p.Glu3021Lys) single nucleotide variant Uncertain significance rs41289299 GRCh37 Chromosome 10, 16918941: 16918941
44 CUBN NM_001081.3(CUBN): c.9061G> A (p.Glu3021Lys) single nucleotide variant Uncertain significance rs41289299 GRCh38 Chromosome 10, 16876942: 16876942
45 CUBN NM_001081.3(CUBN): c.8741C> T (p.Ala2914Val) single nucleotide variant Benign/Likely benign rs45551835 GRCh37 Chromosome 10, 16932384: 16932384
46 CUBN NM_001081.3(CUBN): c.8741C> T (p.Ala2914Val) single nucleotide variant Benign/Likely benign rs45551835 GRCh38 Chromosome 10, 16890385: 16890385
47 CUBN NM_001081.3(CUBN): c.8656G> A (p.Val2886Met) single nucleotide variant Uncertain significance rs200235278 GRCh37 Chromosome 10, 16932469: 16932469
48 CUBN NM_001081.3(CUBN): c.8656G> A (p.Val2886Met) single nucleotide variant Uncertain significance rs200235278 GRCh38 Chromosome 10, 16890470: 16890470
49 CUBN NM_001081.3(CUBN): c.8502G> A (p.Thr2834=) single nucleotide variant Uncertain significance rs749545791 GRCh37 Chromosome 10, 16941091: 16941091
50 CUBN NM_001081.3(CUBN): c.8502G> A (p.Thr2834=) single nucleotide variant Uncertain significance rs749545791 GRCh38 Chromosome 10, 16899092: 16899092

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
11.83 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 10.6 AMN CUBN GIF LMBRD1 MMADHC MTR
10
Show member pathways
10.45 AMN CUBN GIF
11 10.18 FTCD MTHFD1
12
Show member pathways
10.06 MTR MTRR

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 9.97 DHFR MT-CO1 MTHFD1 MTHFR MTRR
2 cellular amino acid biosynthetic process GO:0008652 9.63 MTHFD1 MTR MTRR
3 one-carbon metabolic process GO:0006730 9.61 DHFR MTHFD1 MTHFR
4 tetrahydrofolate interconversion GO:0035999 9.58 FTCD MTHFD1 MTHFR
5 axon regeneration GO:0031103 9.56 DHFR MTR
6 cellular metabolic process GO:0044237 9.55 FTCD MTR
7 tetrahydrofolate metabolic process GO:0046653 9.54 DHFR MTHFR
8 methionine biosynthetic process GO:0009086 9.54 MTHFD1 MTR MTRR
9 high-density lipoprotein particle clearance GO:0034384 9.52 AMN CUBN
10 sulfur amino acid metabolic process GO:0000096 9.51 MTR MTRR
11 methionine metabolic process GO:0006555 9.5 MTHFD1 MTHFR MTRR
12 homocysteine metabolic process GO:0050667 9.49 MTHFR MTRR
13 thiamine-containing compound metabolic process GO:0042723 9.48 SLC19A2 TPK1
14 folic acid metabolic process GO:0046655 9.46 DHFR MTHFD1 MTHFR MTRR
15 cobalt ion transport GO:0006824 9.43 GIF TCN1 TCN2
16 cobalamin transport GO:0015889 9.35 AMN CUBN GIF TCN1 TCN2
17 cobalamin metabolic process GO:0009235 9.28 AMN CUBN GIF LMBRD1 MMADHC MTR

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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