IGS
MCID: MGL001
MIFTS: 54

Megaloblastic Anemia (IGS)

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



External Ids:

Disease Ontology 12 DOID:13382
ICD10 33 D53.1
MeSH 44 D000749
NCIt 50 C34382
SNOMED-CT 68 53165003

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 Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and myeloid, and related phenotypes are Decreased viability and Decreased viability

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 685)
# Related Disease Score Top Affiliating Genes
1 megaloblastic anemia 1 34.4 AMN CBLIF CUBN
2 congenital intrinsic factor deficiency 33.1 AMN CBLIF CUBN
3 3-methylglutaconic aciduria, type i 31.9 AMN CUBN TCN1
4 homocystinuria 31.7 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
5 homocysteinemia 31.6 MTHFR MTR MTRR
6 transcobalamin ii deficiency 31.1 CBLIF DHFR LMBRD1 MMADHC MTHFR MTR
7 pernicious anemia 30.6 CBLIF TCN1 TCN2
8 vitamin b12 deficiency 30.1 AMN MTHFR MTR TCN1 TCN2
9 neural tube defects 29.5 DHFR MTHFD1 MTHFR MTR MTRR TCN2
10 thiamine-responsive megaloblastic anemia syndrome 12.9
11 megaloblastic anemia due to dihydrofolate reductase deficiency 12.7
12 homocystinuria-megaloblastic anemia, cblg complementation type 12.7
13 hyper-ige recurrent infection syndrome, autosomal dominant 12.7
14 homocystinuria-megaloblastic anemia, cble complementation type 12.6
15 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12.5
16 hyper ige syndrome 12.5
17 hyper-ige recurrent infection syndrome, autosomal recessive 12.5
18 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.4
19 congenital disorder of glycosylation, type ig 12.3
20 ige responsiveness, atopic 12.3
21 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.3
22 amelogenesis imperfecta, type ig 12.3
23 usher syndrome, type ig 12.1
24 selective ige deficiency disease 12.0
25 immunodeficiency 35 12.0
26 amelogenesis imperfecta hypoplastic type, ig 12.0
27 acquired monoclonal ig light chain-associated fanconi syndrome 12.0
28 epilepsy, idiopathic generalized 11.9
29 netherton syndrome 11.9
30 alg12-congenital disorder of glycosylation 11.8
31 intrinsic factor deficiency 11.8
32 orotic aciduria 11.7
33 immunodeficiency 23 11.7
34 immunodeficiency 11b with atopic dermatitis 11.7
35 iminoglycinuria 11.6
36 common variable immunodeficiency 11.6
37 immunodeficiency with hyper-igm, type 1 11.5
38 folate malabsorption, hereditary 11.5
39 atrophic gastritis 11.4
40 asthma 11.4
41 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 11.4
42 lubani-al saleh-teebi syndrome 11.4
43 allergic asthma 11.4
44 agammaglobulinemia, x-linked 11.4
45 immunodeficiency with hyper-igm, type 4 11.4
46 glutamate formiminotransferase deficiency 11.3
47 anemia, congenital dyserythropoietic, type iii 11.3
48 dermatitis, atopic, 2 11.2
49 asthma-related traits 4 11.2
50 epilepsy, idiopathic generalized 10 11.2

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



Diseases related to Megaloblastic Anemia

Symptoms & Phenotypes for Megaloblastic Anemia

GenomeRNAi Phenotypes related to Megaloblastic Anemia according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.15 TPK1
2 Decreased viability GR00173-A 10.15 TPK1
3 Decreased viability GR00221-A-3 10.15 TPK1
4 Decreased viability GR00221-A-4 10.15 TPK1
5 Decreased viability GR00240-S-1 10.15 TPK1
6 Decreased viability GR00342-S-1 10.15 TPK1
7 Decreased viability GR00342-S-2 10.15 TPK1
8 Decreased viability GR00342-S-3 10.15 TPK1
9 Decreased viability GR00381-A-1 10.15 DHFR TCN1 TPK1 UMPS
10 Decreased viability GR00402-S-2 10.15 AMN CBLIF CUBN DHFR FTCD KRT222
11 no effect GR00402-S-1 9.6 AMN CBLIF CUBN DHFR FTCD KRT222

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
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3 13422-55-4
3
Iron Approved Phase 4 7439-89-6 23925
4
Tocopherol Approved, Investigational Phase 4 1406-66-2 14986
5
Copper Approved, Investigational Phase 4 7440-50-8 27099
6
Zinc Approved, Investigational Phase 4 7440-66-6
7
leucovorin Approved Phase 4,Phase 2,Phase 3 58-05-9 6006 143
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
9
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 2,Phase 3 68-19-9 44176380
10
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
11
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
12
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
13
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
14
Cobalamin Experimental Phase 4,Phase 2,Phase 3 13408-78-1 6438156
15 Tocotrienol Investigational Phase 4 6829-55-6
16 Trace Elements Phase 4,Phase 2,Phase 3
17 Vitamin B Complex Phase 4,Phase 2,Phase 3
18 Vitamin B9 Phase 4,Phase 2,Phase 3
19 Micronutrients Phase 4,Phase 2,Phase 3
20 Folate Phase 4,Phase 2,Phase 3
21 Hematinics Phase 4,Phase 2,Phase 3
22 Vitamins Phase 4,Phase 2,Phase 3
23 Vitamin B 12 Phase 4,Phase 2,Phase 3
24 Vitamin B12 Phase 4,Phase 2,Phase 3
25 Antioxidants Phase 4
26 Iron Supplement Phase 4
27 Tocotrienols Phase 4
28 Tocopherols Phase 4
29 Vitamin B 6 Phase 4
30 Thiamin Phase 4
31
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050
32 Vaccines Phase 2, Phase 3
33
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
34
Metformin Approved Phase 2 657-24-9 14219 4091
35 tannic acid Approved 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 Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD Unknown status NCT02774057 Phase 4 Captafer®;Iron Sulfate
3 Megadose of Hydroxocobalamin for the Treatment of Pernicious Anemia Recruiting NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg
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, Heart, Myeloid, Skin, Testes, T Cells, Bone Marrow

Publications for Megaloblastic Anemia

Articles related to Megaloblastic Anemia:

(show top 50) (show all 469)
# 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
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. ( 30057141 )
2018
4
Pulmonary embolism and megaloblastic anemia: is there a link? A case report an literature review. ( 30233762 )
2018
5
A descriptive study of clinico-hematological profile of megaloblastic anemia in a tertiary care hospital. ( 30449923 )
2018
6
Arrhythmia in thiamine responsive megaloblastic anemia syndrome. ( 30511554 )
2018
7
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report. ( 28504500 )
2017
8
Monogenic diabetes syndromes: Locus-specific databases for AlstrAPm, Wolfram, and Thiamine-responsive megaloblastic anemia. ( 28432734 )
2017
9
LONG-TERM MULTIMODAL IMAGING OF OCULAR FINDINGS ASSOCIATED WITH THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA. ( 29210962 )
2017
10
Leukemoid reaction in megaloblastic anemia of the puerperium: An unusual cause. ( 29417043 )
2017
11
Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation. ( 28076318 )
2017
12
"Rediscovering arneth count" prevalence of megaloblastic anemia in chronic metformin users. ( 27728103 )
2016
13
Iron deficiency anemia and megaloblastic anemia in obese patients. ( 27648630 )
2016
14
Clinical profile of megaloblastic anemia in China: a single center experience from MegA-1710 program over two decades. ( 26868126 )
2016
15
Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome. ( 27466740 )
2016
16
Drug-Induced Megaloblastic Anemia. ( 26886542 )
2016
17
Comment on: Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report. ( 28112143 )
2016
18
Comparative Assessment of Vitamin-B12, Folic Acid and Homocysteine Levels in Relation to p53 Expression in Megaloblastic Anemia. ( 27780269 )
2016
19
Drug-Induced Megaloblastic Anemia. ( 26886541 )
2016
20
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
21
Drug-Induced Megaloblastic Anemia. ( 26886543 )
2016
22
Comment: In response to "Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome. ( 27956372 )
2016
23
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. ( 27707659 )
2016
24
[Maternal Crohn's disease-related vitamin B12 deficient megaloblastic anemia in an infant]. ( 26861098 )
2016
25
Cutaneous Hyperpigmentation in Megaloblastic Anemia: a Five Year Retrospective Review. ( 27158434 )
2016
26
Bilateral macular hemorrhage due to megaloblastic anemia: A rare case report. ( 27050355 )
2016
27
Hepatitis B Leading to Megaloblastic Anemia and Catastrophic Peripheral Thrombocytopenia. ( 28043314 )
2016
28
Megaloblastic anemia presenting with skin hyperpigmentation. ( 26961325 )
2016
29
Tremors Following Blood Transfusion in Children with Megaloblastic Anemia. ( 26558920 )
2015
30
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified. ( 25707023 )
2015
31
Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient. ( 26549656 )
2015
32
Megaloblastic anemia in a teenage patient. ( 26843761 )
2015
33
Drug-Induced Megaloblastic Anemia. ( 26488695 )
2015
34
Megaloblastic anemia with hypotension and transient delirium as the primary symptoms: report of a case. ( 26770511 )
2015
35
Megaloblastic anemia presenting with massive reversible splenomegaly. ( 25825577 )
2015
36
Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia. ( 25757096 )
2015
37
Two cases of primary cold agglutinin disease associated with megaloblastic anemia. ( 25918651 )
2015
38
Megaloblastic anemia: A common but often neglected cause of pyrexia of unknown origin. ( 27847889 )
2015
39
Cochlear implant and thiamine-responsive megaloblastic anemia syndrome. ( 24658560 )
2014
40
Thiamine-responsive megaloblastic anemia in an Iraqi girl. ( 24676994 )
2014
41
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
42
FUNDUS AUTOFLUORESCENCE AND OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA. ( 25383846 )
2014
43
Thiamine responsive megaloblastic anemia: The puzzling phenotype. ( 24249281 )
2014
44
Prominent Howell-Jolly bodies when megaloblastic anemia develops in a hyposplenic patient. ( 24764103 )
2014
45
Esophageal Leiomyoma in Patients with Megaloblastic Anemia. ( 29699356 )
2014
46
Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2. ( 24520986 )
2014
47
Leber's Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report. ( 23638917 )
2013
48
Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases. ( 24072090 )
2013
49
Pyrexia in a patient with megaloblastic anemia: a case report and literature review. ( 24031113 )
2013
50
Laboratory testing for cobalamin deficiency in megaloblastic anemia. ( 23423840 )
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.9061G> A (p.Glu3021Lys) single nucleotide variant Uncertain significance rs41289299 GRCh38 Chromosome 10, 16876942: 16876942
4 CUBN NM_001081.3(CUBN): c.6561G> A (p.Ser2187=) single nucleotide variant Likely benign rs11254278 GRCh38 Chromosome 10, 16925326: 16925326
5 CUBN NM_001081.3(CUBN): c.*794A> G single nucleotide variant Uncertain significance rs886046852 GRCh37 Chromosome 10, 16866180: 16866180
6 CUBN NM_001081.3(CUBN): c.*794A> G single nucleotide variant Uncertain significance rs886046852 GRCh38 Chromosome 10, 16824181: 16824181
7 CUBN NM_001081.3(CUBN): c.*781C> T single nucleotide variant Likely benign rs115080396 GRCh37 Chromosome 10, 16866193: 16866193
8 CUBN NM_001081.3(CUBN): c.*781C> T single nucleotide variant Likely benign rs115080396 GRCh38 Chromosome 10, 16824194: 16824194
9 CUBN NM_001081.3(CUBN): c.*734A> G single nucleotide variant Uncertain significance rs751683958 GRCh37 Chromosome 10, 16866240: 16866240
10 CUBN NM_001081.3(CUBN): c.*734A> G single nucleotide variant Uncertain significance rs751683958 GRCh38 Chromosome 10, 16824241: 16824241
11 CUBN NM_001081.3(CUBN): c.*436C> A single nucleotide variant Uncertain significance rs574512019 GRCh38 Chromosome 10, 16824539: 16824539
12 CUBN NM_001081.3(CUBN): c.*436C> A single nucleotide variant Uncertain significance rs574512019 GRCh37 Chromosome 10, 16866538: 16866538
13 CUBN NM_001081.3(CUBN): c.*330G> C single nucleotide variant Uncertain significance rs181630914 GRCh37 Chromosome 10, 16866644: 16866644
14 CUBN NM_001081.3(CUBN): c.*330G> C single nucleotide variant Uncertain significance rs181630914 GRCh38 Chromosome 10, 16824645: 16824645
15 CUBN NM_001081.3(CUBN): c.*305T> G single nucleotide variant Likely benign rs143326344 GRCh37 Chromosome 10, 16866669: 16866669
16 CUBN NM_001081.3(CUBN): c.*305T> G single nucleotide variant Likely benign rs143326344 GRCh38 Chromosome 10, 16824670: 16824670
17 CUBN NM_001081.3(CUBN): c.*266C> T single nucleotide variant Uncertain significance rs374059721 GRCh37 Chromosome 10, 16866708: 16866708
18 CUBN NM_001081.3(CUBN): c.*266C> T single nucleotide variant Uncertain significance rs374059721 GRCh38 Chromosome 10, 16824709: 16824709
19 CUBN NM_001081.3(CUBN): c.*203C> T single nucleotide variant Uncertain significance rs769041830 GRCh37 Chromosome 10, 16866771: 16866771
20 CUBN NM_001081.3(CUBN): c.*203C> T single nucleotide variant Uncertain significance rs769041830 GRCh38 Chromosome 10, 16824772: 16824772
21 CUBN NM_001081.3(CUBN): c.*162G> A single nucleotide variant Uncertain significance rs558891678 GRCh37 Chromosome 10, 16866812: 16866812
22 CUBN NM_001081.3(CUBN): c.*162G> A single nucleotide variant Uncertain significance rs558891678 GRCh38 Chromosome 10, 16824813: 16824813
23 CUBN NM_001081.3(CUBN): c.*151G> A single nucleotide variant Likely benign rs76742384 GRCh37 Chromosome 10, 16866823: 16866823
24 CUBN NM_001081.3(CUBN): c.*151G> A single nucleotide variant Likely benign rs76742384 GRCh38 Chromosome 10, 16824824: 16824824
25 CUBN NM_001081.3(CUBN): c.*93C> A single nucleotide variant Likely benign rs111644764 GRCh37 Chromosome 10, 16866881: 16866881
26 CUBN NM_001081.3(CUBN): c.*93C> A single nucleotide variant Likely benign rs111644764 GRCh38 Chromosome 10, 16824882: 16824882
27 CUBN NM_001081.3(CUBN): c.*45C> T single nucleotide variant Likely benign rs7085076 GRCh37 Chromosome 10, 16866929: 16866929
28 CUBN NM_001081.3(CUBN): c.*45C> T single nucleotide variant Likely benign rs7085076 GRCh38 Chromosome 10, 16824930: 16824930
29 CUBN NM_001081.3(CUBN): c.10383C> T (p.Ser3461=) single nucleotide variant Conflicting interpretations of pathogenicity rs141937843 GRCh37 Chromosome 10, 16873396: 16873396
30 CUBN NM_001081.3(CUBN): c.10383C> T (p.Ser3461=) single nucleotide variant Conflicting interpretations of pathogenicity rs141937843 GRCh38 Chromosome 10, 16831397: 16831397
31 CUBN NM_001081.3(CUBN): c.10267G> A (p.Val3423Ile) single nucleotide variant Uncertain significance rs145872906 GRCh37 Chromosome 10, 16877108: 16877108
32 CUBN NM_001081.3(CUBN): c.10267G> A (p.Val3423Ile) single nucleotide variant Uncertain significance rs145872906 GRCh38 Chromosome 10, 16835109: 16835109
33 CUBN NM_001081.3(CUBN): c.10265C> T (p.Thr3422Ile) single nucleotide variant Benign/Likely benign rs1801230 GRCh37 Chromosome 10, 16877110: 16877110
34 CUBN NM_001081.3(CUBN): c.10265C> T (p.Thr3422Ile) single nucleotide variant Benign/Likely benign rs1801230 GRCh38 Chromosome 10, 16835111: 16835111
35 CUBN NM_001081.3(CUBN): c.10245C> T (p.Tyr3415=) single nucleotide variant Uncertain significance rs147730705 GRCh37 Chromosome 10, 16877130: 16877130
36 CUBN NM_001081.3(CUBN): c.10245C> T (p.Tyr3415=) single nucleotide variant Uncertain significance rs147730705 GRCh38 Chromosome 10, 16835131: 16835131
37 CUBN NM_001081.3(CUBN): c.10181-14A> G single nucleotide variant Uncertain significance rs886046864 GRCh37 Chromosome 10, 16877208: 16877208
38 CUBN NM_001081.3(CUBN): c.10181-14A> G single nucleotide variant Uncertain significance rs886046864 GRCh38 Chromosome 10, 16835209: 16835209
39 CUBN NM_001081.3(CUBN): c.10076C> T (p.Ser3359Leu) single nucleotide variant Uncertain significance rs140566726 GRCh37 Chromosome 10, 16878338: 16878338
40 CUBN NM_001081.3(CUBN): c.10076C> T (p.Ser3359Leu) single nucleotide variant Uncertain significance rs140566726 GRCh38 Chromosome 10, 16836339: 16836339
41 CUBN NM_001081.3(CUBN): c.10039G> A (p.Gly3347Arg) single nucleotide variant Benign/Likely benign rs146027947 GRCh37 Chromosome 10, 16878375: 16878375
42 CUBN NM_001081.3(CUBN): c.10039G> A (p.Gly3347Arg) single nucleotide variant Benign/Likely benign rs146027947 GRCh38 Chromosome 10, 16836376: 16836376
43 CUBN NM_001081.3(CUBN): c.9714T> C (p.Gly3238=) single nucleotide variant Uncertain significance rs141513734 GRCh37 Chromosome 10, 16882996: 16882996
44 CUBN NM_001081.3(CUBN): c.9714T> C (p.Gly3238=) single nucleotide variant Uncertain significance rs141513734 GRCh38 Chromosome 10, 16840997: 16840997
45 CUBN NM_001081.3(CUBN): c.9061G> A (p.Glu3021Lys) single nucleotide variant Uncertain significance rs41289299 GRCh37 Chromosome 10, 16918941: 16918941
46 CUBN NM_001081.3(CUBN): c.8741C> T (p.Ala2914Val) single nucleotide variant Benign/Likely benign rs45551835 GRCh37 Chromosome 10, 16932384: 16932384
47 CUBN NM_001081.3(CUBN): c.8741C> T (p.Ala2914Val) single nucleotide variant Benign/Likely benign rs45551835 GRCh38 Chromosome 10, 16890385: 16890385
48 CUBN NM_001081.3(CUBN): c.8656G> A (p.Val2886Met) single nucleotide variant Uncertain significance rs200235278 GRCh37 Chromosome 10, 16932469: 16932469
49 CUBN NM_001081.3(CUBN): c.8656G> A (p.Val2886Met) single nucleotide variant Uncertain significance rs200235278 GRCh38 Chromosome 10, 16890470: 16890470
50 CUBN NM_001081.3(CUBN): c.8502G> A (p.Thr2834=) single nucleotide variant Uncertain significance rs749545791 GRCh37 Chromosome 10, 16941091: 16941091

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
13.93 AMN CBLIF CUBN DHFR FTCD LMBRD1
2
Show member pathways
12.41 AMN CBLIF CUBN DHFR LMBRD1 MMADHC
3
Show member pathways
12.14 CBLIF CUBN DHFR MTHFD1 MTHFR MTR
4
Show member pathways
12.01 DHFR FTCD MTHFD1 MTHFR MTR MTRR
5
Show member pathways
11.8 DHFR MTHFR UMPS
6
Show member pathways
11.77 AMN CBLIF CUBN MMADHC MTR MTRR
7 11.18 CBLIF CUBN LMBRD1 SLC19A2 TCN2
8 11 DHFR MTHFR
9 10.6 AMN CBLIF CUBN LMBRD1 MMADHC MTR
10
Show member pathways
10.45 AMN CBLIF CUBN
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 endosome GO:0005768 9.55 AMN CBLIF CUBN TCN2 TLR9
2 apical plasma membrane GO:0016324 9.26 AMN CBLIF CUBN TLR9
3 lysosomal lumen GO:0043202 8.8 CBLIF CUBN 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 metabolic process GO:0008152 9.8 FTCD MTHFD1 MTHFR UMPS
3 cellular amino acid biosynthetic process GO:0008652 9.63 MTHFD1 MTR MTRR
4 one-carbon metabolic process GO:0006730 9.61 DHFR MTHFD1 MTHFR
5 cobalamin metabolic process GO:0009235 9.61 AMN CBLIF CUBN LMBRD1 MMADHC MTR
6 tetrahydrofolate interconversion GO:0035999 9.58 FTCD MTHFD1 MTHFR
7 axon regeneration GO:0031103 9.56 DHFR MTR
8 folic acid metabolic process GO:0046655 9.56 DHFR MTHFD1 MTHFR MTRR
9 cellular metabolic process GO:0044237 9.55 FTCD MTR
10 tetrahydrofolate metabolic process GO:0046653 9.54 DHFR MTHFR
11 methionine metabolic process GO:0006555 9.54 MTHFD1 MTHFR MTRR
12 high-density lipoprotein particle clearance GO:0034384 9.52 AMN CUBN
13 homocysteine metabolic process GO:0050667 9.51 MTHFR MTRR
14 cobalt ion transport GO:0006824 9.5 CBLIF TCN1 TCN2
15 thiamine-containing compound metabolic process GO:0042723 9.48 SLC19A2 TPK1
16 methionine biosynthetic process GO:0009086 9.46 MTHFD1 MTHFR MTR MTRR
17 cobalamin transport GO:0015889 9.1 AMN CBLIF CUBN LMBRD1 TCN1 TCN2

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.72 DHFR MT-CO1 MTHFD1 MTHFR MTRR
2 NADPH binding GO:0070402 9.26 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 CBLIF CUBN 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
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37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
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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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