IGS
MCID: MGL001
MIFTS: 59

Megaloblastic Anemia (IGS)

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

Aliases & Classifications for Megaloblastic Anemia

MalaCards integrated aliases for Megaloblastic Anemia:

Name: Megaloblastic Anemia 12 73 29 6 15
Imerslund-Grasbeck Syndrome 12 20 43 58 54
Imerslund-Gräsbeck Syndrome 43 29 6
Selective Cobalamin Malabsorption with Proteinuria 20 58
Defect of Enterocyte Intrinsic Factor Receptor 20 43
Enterocyte Cobalamin Malabsorption 20 43
Familial Megaloblastic Anemia 20 58
Megaloblastic Anemia 1 20 43
Anemia, Megaloblastic 44 70
Igs 12 20
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 20
Juvenile Pernicious Anemia with Proteinuria Due to Selective Intestinal Malabsorption of Vitamin B12 43
Megaloblastic Anemia Due to Inborn Errors of Metabolism 70
Recessive Hereditary Megaloblastic Anaemia 1 12
Recessive Hereditary Megaloblastic Anemia 1 12
3-@methylglutaconic Aciduria, Type I 70
Grasbeck-Imerslund Syndrome 12
Gräsbeck-Imerslund Disease 20
Megaloblastic Anaemia 12
Anemia Megaloblastic 54
Mga1 Norwegian Type 12
Rh-Mga1 12

Characteristics:

Orphanet epidemiological data:

58
imerslund-grasbeck syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Finland),1-9/1000000 (Norway); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare renal diseases
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:13382
MeSH 44 D000749
NCIt 50 C34382
SNOMED-CT 67 191138009
ICD10 32 D53.1
ICD10 via Orphanet 33 D51.1
UMLS via Orphanet 71 C1306856
Orphanet 58 ORPHA35858
UMLS 70 C0002888 C0342727 C1306856

Summaries for Megaloblastic Anemia

MedlinePlus Genetics : 43 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.Imerslund-Gräsbeck syndrome typically begins in infancy or early childhood. The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow and gain weight at the expected rate (failure to thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring gastrointestinal or respiratory infections. Other features of Imerslund-Gräsbeck syndrome include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion. Rarely, affected individuals have abnormalities of organs or tissues that make up the urinary tract, such as the bladder or the tubes that carry fluid from the kidneys to the bladder (the ureters).

MalaCards based summary : Megaloblastic Anemia, also known as imerslund-grasbeck syndrome, is related to congenital intrinsic factor deficiency and folate malabsorption, hereditary, and has symptoms including athetosis and cerebellar ataxia. 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 Iron and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone marrow and small intestine, and related phenotypes are Decreased viability and Decreased viability

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

GARD : 20 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.

Wikipedia : 73 Megaloblastic anemia is a type of macrocytic anemia that results from inhibition of DNA synthesis during... 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 380)
# Related Disease Score Top Affiliating Genes
1 congenital intrinsic factor deficiency 32.7 TCN2 CUBN CBLIF AMN
2 folate malabsorption, hereditary 32.7 SLC19A2 SLC19A1 MTR DHFR
3 glutamate formiminotransferase deficiency 32.4 MTR LMBRD1
4 3-methylglutaconic aciduria, type i 32.3 CUBN CBLIF AMN
5 methylmalonic aciduria and homocystinuria type cblg 32.2 MTRR MTR
6 methylmalonic aciduria and homocystinuria type cble 32.2 MTRR MTR
7 transcobalamin ii deficiency 32.1 TCN2 TCN1 LMBRD1 CBLIF
8 homocystinuria 32.0 TCN2 MTRR MTR MTHFR MMADHC LMBRD1
9 homocysteinemia 31.9 SLC19A1 MTRR MTR MTHFR
10 deficiency anemia 31.7 TCN2 SLC19A2 MTR MMADHC LMBRD1 HP
11 pernicious anemia 31.3 TCN2 TCN1 MTR CBLIF
12 macrocytic anemia 31.2 TCN2 SLC19A2 AMN
13 pancytopenia 31.1 TP53 TCN2 HP DHFR CBLIF
14 vitamin b12 deficiency 31.0 TCN2 TCN1 MTRR MTR MTHFR LMBRD1
15 tropical sprue 30.7 TCN1 CBLIF AMN
16 sensorineural hearing loss 30.6 TPK1 SLC19A2 MTR MTHFR MT-CO1
17 disorders of intracellular cobalamin metabolism 30.5 MTRR MTR MMADHC LMBRD1
18 methylmalonic acidemia without homocystinuria 30.5 MTRR MTR MMADHC
19 methylmalonic acidemia 30.4 TCN2 TCN1 MTRR MTR MTHFR MMADHC
20 beriberi 30.3 TPK1 TKT SLC19A2
21 phenylketonuria 30.1 MTRR MTR MTHFR
22 vascular disease 29.9 TP53 MTRR MTR MTHFR HP
23 neural tube defects 29.6 TP53 TCN2 TCN1 SLC19A1 MTRR MTR
24 thiamine-responsive megaloblastic anemia syndrome 12.1
25 megaloblastic anemia due to dihydrofolate reductase deficiency 11.8
26 homocystinuria-megaloblastic anemia, cblg complementation type 11.8
27 homocystinuria-megaloblastic anemia, cble complementation type 11.8
28 imerslund-grasbeck syndrome 1 11.6
29 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 11.6
30 orotic aciduria 11.6
31 imerslund-grasbeck syndrome 2 11.5
32 homocystinuria-megaloblastic anemia cble type 11.5
33 intrinsic factor deficiency 11.4
34 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 11.3
35 lubani-al saleh-teebi syndrome 11.3
36 methylmalonic acidemia with homocystinuria 11.3
37 transcobalamin deficiency 11.2
38 folic acid deficiency anemia 11.1
39 constitutional megaloblastic anemia due to vitamin b12 metabolism disorder 11.1
40 vitamin b12- and folate-independent constitutional megaloblastic anemia 11.1
41 constitutional megaloblastic anemia due to folate metabolism disorder 11.1
42 atrophic gastritis 11.1
43 methylmalonic aciduria and homocystinuria, cbld type 11.1
44 lesch-nyhan syndrome 11.1
45 anemia, congenital dyserythropoietic, type iii 11.0
46 adenosylcobalamin deficiency 11.0
47 branchiootic syndrome 1 10.7
48 autosomal recessive disease 10.6
49 iron metabolism disease 10.4
50 myelodysplastic syndrome 10.4

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



Diseases related to Megaloblastic Anemia

Symptoms & Phenotypes for Megaloblastic Anemia

UMLS symptoms related to Megaloblastic Anemia:


athetosis; cerebellar ataxia

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.07 TPK1
2 Decreased viability GR00173-A 10.07 TPK1
3 Decreased viability GR00221-A-3 10.07 TPK1
4 Decreased viability GR00221-A-4 10.07 TPK1
5 Decreased viability GR00240-S-1 10.07 TP53 TPK1
6 Decreased viability GR00249-S 10.07 AMN DHFR HP LMBRD1 MMADHC TP53
7 Decreased viability GR00342-S-1 10.07 TPK1
8 Decreased viability GR00342-S-2 10.07 TPK1
9 Decreased viability GR00342-S-3 10.07 TPK1
10 Decreased viability GR00381-A-1 10.07 DHFR TCN1 TPK1 UMPS
11 Decreased viability GR00386-A-1 10.07 AMN MTHFD1 MTHFR TCN2
12 Decreased viability GR00402-S-2 10.07 TP53 TPK1
13 Increased the percentage of infected cells GR00402-S-1 8.32 CBLIF

MGI Mouse Phenotypes related to Megaloblastic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 CBLIF CUBN DHFR HP LMBRD1 MT-CO1
2 liver/biliary system MP:0005370 9.5 CBLIF DHFR HP MTHFR SLC19A1 TKT
3 mortality/aging MP:0010768 9.47 AMN CBLIF CUBN DHFR HP LMBRD1

Drugs & Therapeutics for Megaloblastic Anemia

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4 7439-89-6 23925 29936
2
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
3
Copper Approved, Investigational Phase 4 7440-50-8 27099
4
Tocopherol Approved, Investigational Phase 4 1406-66-2
5
Zinc Approved, Investigational Phase 4 7440-66-6 32051
6
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
7
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
8
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
9
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
11
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
12
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
13
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
14 Tocotrienol Investigational Phase 4 6829-55-6
15
Cobalamin Experimental Phase 4 13408-78-1 6857388
16 Iron Supplement Phase 4
17 Copper Supplement Phase 4
18 Antioxidants Phase 4
19 Tocotrienols Phase 4
20 Tocopherols Phase 4
21 Vitamin B9 Phase 4
22 Nutrients Phase 4
23 Trace Elements Phase 4
24 Micronutrients Phase 4
25 Hematinics Phase 4
26 Vitamins Phase 4
27 Vitamin B Complex Phase 4
28 Folate Phase 4
29 Vitamin B 6 Phase 4
30 Vitamin B12 Phase 4
31 Vitamin B 12 Phase 4
32 Thiamin Phase 4
33
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Cross-Over Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With Inflammatory Bowel Disease Unknown status NCT02774057 Phase 4 Captafer®;Iron Sulfate
2 Megadose of Hydroxocobalamin (Vitamin B12) for the Treatment of Pernicious Anemia Completed NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg

Search NIH Clinical Center for Megaloblastic Anemia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Folic Acid
Leucovorin
Leucovorin Calcium
levomefolate

Cochrane evidence based reviews: anemia, megaloblastic

Genetic Tests for Megaloblastic Anemia

Genetic tests related to Megaloblastic Anemia:

# Genetic test Affiliating Genes
1 Imerslund-Gräsbeck Syndrome 29
2 Megaloblastic Anemia 29

Anatomical Context for Megaloblastic Anemia

MalaCards organs/tissues related to Megaloblastic Anemia:

40
Kidney, Bone Marrow, Small Intestine, Spinal Cord, Skin, Myeloid, Neutrophil

Publications for Megaloblastic Anemia

Articles related to Megaloblastic Anemia:

(show top 50) (show all 1495)
# Title Authors PMID Year
1
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. 6 61
15024727 2004
2
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. 6 61
12590260 2003
3
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. 6
25349199 2015
4
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. 6
22929189 2012
5
Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice. 61 54
19879271 2010
6
A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. 61 54
18614593 2009
7
TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations. 61 54
19373259 2009
8
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness. 61 54
19817279 2009
9
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation. 54 61
17554763 2007
10
Hyperhomocysteinemia, deep vein thrombosis and vitamin B12 deficiency in a metformin-treated diabetic patient. 61 54
17908667 2007
11
Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan. 61 54
16047053 2005
12
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. 54 61
14695536 2004
13
Update on cobalamin, folate, and homocysteine. 61 54
14633777 2003
14
Linkage analysis of a large inbred family with congenital megaloblastic anemia. 61 54
12436132 2002
15
Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians. 54 61
11286512 2001
16
Recent insights into the molecular genetics of the homocysteine metabolism. 61 54
11169018 2001
17
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. 61 54
10887099 2000
18
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. 54 61
10484769 1999
19
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. 61 54
9856490 1998
20
The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region. 61 54
9572993 1998
21
Diagnostic utility of serum transferrin receptors measurement in assessing iron status. 61 54
9624883 1998
22
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. 61 54
9501215 1998
23
Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review. 61 54
9286442 1997
24
Antibodies to transcobalamin II block in vitro proliferation of leukemic cells. 54 61
8978297 1997
25
Vitamin B12 in health and disease: part I--inherited disorders of function, absorption, and transport. 61 54
8775094 1995
26
The cloning and characterization of the human transcobalamin II gene. 54 61
7742531 1995
27
Identification of two mutant alleles of transcobalamin II in an affected family. 61 54
7849710 1994
28
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness. 54 61
8394635 1993
29
Serum transferrin receptor in the megaloblastic anemia of cobalamin deficiency. 54 61
1473586 1992
30
Cobalamin-dependent methionine synthase. 54 61
2407589 1990
31
[Megaloblastic anemia caused by a congenital deficiency of transcobalamin II]. 61 54
2333586 1990
32
Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia. 61
33571483 2021
33
The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2. 61
33649974 2021
34
Cutaneous hyperpigmentation and megaloblastic anemia as manifestations of gastric syphilis. 61
33719066 2021
35
Sub-internal limiting membrane haemorrhage following pancytopenia in megaloblastic anemia. 61
33689650 2021
36
Potential contributors to low dose methotrexate toxicity in a patient with rheumatoid arthritis and pernicious anemia: case report. 61
33573706 2021
37
Monogenic diabetes: A single center experience from South India. 61
32418360 2021
38
Severe Malnutrition and Anemia Are Associated with Severe COVID in Infants. 61
33313926 2021
39
Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene. 61
33491342 2021
40
Neonatal Diabetes Mellitus: Novel Mutations. 61
33409956 2021
41
Sex Differences in Folate Levels: A Cross Sectional Study of a Large Cohort from Israel. 61
33443337 2021
42
Could high serum folate be associated with adverse effects? 61
33489023 2020
43
Combined sclerosis of the spinal cord revealing Biermer's anemia: about a case. 61
33480010 2020
44
[Extra hospital use of nitrous oxide for recreational purposes]. 61
33739664 2020
45
Pure erythroid leukemia. 61
33235778 2020
46
Thiamine-Responsive Megaloblastic Anemia-Related Diabetes: Long-Term Clinical Outcomes in 23 Pediatric Patients From the DPV and SWEET Registries. 61
33388275 2020
47
Viral metagenomics reveals diverse anelloviruses in bone marrow specimens from hematologic patients. 61
32961430 2020
48
Imerslund-Grasbeck syndrome in a cross-breed dog. 61
33022748 2020
49
Folic acid versus 5- methyl tetrahydrofolate supplementation in pregnancy. 61
32868164 2020
50
Frequency and Etiology of Pancytopenia in Patients Admitted to a Tertiary Care Hospital in Karachi. 61
33224653 2020

Variations for Megaloblastic Anemia

ClinVar genetic disease variations for Megaloblastic Anemia:

6 (show top 50) (show all 350)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMN NM_030943.3(AMN):c.318_319CT[3] (p.Asp108fs) Microsatellite Pathogenic 523538 rs1555381324 GRCh37: 14:103395116-103395117
GRCh38: 14:102928779-102928780
2 CUBN NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) Deletion Pathogenic 189227 rs757649673 GRCh37: 10:16960687-16960693
GRCh38: 10:16918688-16918694
3 CUBN NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) Duplication Pathogenic 522509 rs1168074679 GRCh37: 10:16982067-16982068
GRCh38: 10:16940068-16940069
4 CUBN NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) SNV Pathogenic 522697 rs1554790861 GRCh37: 10:16946072-16946072
GRCh38: 10:16904073-16904073
5 overlap with 2 genes NC_000014.9:g.(?_102870182)_(102930700_?)del Deletion Pathogenic 532214 GRCh37: 14:103336519-103397037
GRCh38: 14:102870182-102930700
6 CUBN NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) SNV Pathogenic 579557 rs1564435943 GRCh37: 10:16982049-16982049
GRCh38: 10:16940050-16940050
7 CUBN NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) SNV Pathogenic 581662 rs143944436 GRCh37: 10:16982151-16982151
GRCh38: 10:16940152-16940152
8 CUBN NM_001081.3(CUBN):c.5600del (p.Phe1867fs) Deletion Pathogenic 599082 rs747417629 GRCh37: 10:16981095-16981095
GRCh38: 10:16939096-16939096
9 CUBN NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter) SNV Pathogenic 836099 GRCh37: 10:16877130-16877130
GRCh38: 10:16835131-16835131
10 CUBN NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter) SNV Pathogenic 838702 GRCh37: 10:16957052-16957052
GRCh38: 10:16915053-16915053
11 CUBN NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) SNV Pathogenic 942574 GRCh37: 10:17157487-17157487
GRCh38: 10:17115488-17115488
12 CUBN NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) SNV Pathogenic 936927 GRCh37: 10:16957935-16957935
GRCh38: 10:16915936-16915936
13 CUBN NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter) SNV Pathogenic 937337 GRCh37: 10:17113967-17113967
GRCh38: 10:17071968-17071968
14 AMN NM_030943.4(AMN):c.791dup (p.Phe265fs) Duplication Pathogenic 937588 GRCh37: 14:103396021-103396022
GRCh38: 14:102929684-102929685
15 CUBN NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter) SNV Pathogenic 569408 rs137998687 GRCh37: 10:16948208-16948208
GRCh38: 10:16906209-16906209
16 CUBN NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter) SNV Pathogenic 575738 rs145661597 GRCh37: 10:17026170-17026170
GRCh38: 10:16984171-16984171
17 CUBN NM_001081.3(CUBN):c.1865del (p.Thr622fs) Deletion Likely pathogenic 56323 rs386833771 GRCh37: 10:17130245-17130245
GRCh38: 10:17088246-17088246
18 CUBN NM_001081.4(CUBN):c.7534-1G>T SNV Likely pathogenic 829919 rs1588639188 GRCh37: 10:16949679-16949679
GRCh38: 10:16907680-16907680
19 CUBN NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) SNV Likely pathogenic 829936 rs374417889 GRCh37: 10:16975122-16975122
GRCh38: 10:16933123-16933123
20 CUBN NM_001081.4(CUBN):c.4973del (p.Asn1658fs) Deletion Likely pathogenic 829940 rs1588511533 GRCh37: 10:16992107-16992107
GRCh38: 10:16950108-16950108
21 CUBN NM_001081.4(CUBN):c.7001-2A>T SNV Likely pathogenic 850031 GRCh37: 10:16958031-16958031
GRCh38: 10:16916032-16916032
22 CUBN NM_001081.3(CUBN):c.10285dup (p.Gln3429fs) Duplication Likely pathogenic 590812 rs754704005 GRCh37: 10:16877089-16877090
GRCh38: 10:16835090-16835091
23 CUBN NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) Deletion Likely pathogenic 667368 rs770921101 GRCh37: 10:17026165-17026169
GRCh38: 10:16984166-16984170
24 CUBN NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) SNV Likely pathogenic 695032 rs201720797 GRCh37: 10:16975115-16975115
GRCh38: 10:16933116-16933116
25 AMN NM_030943.3(AMN):c.844-1G>C SNV Likely pathogenic 567966 rs969552874 GRCh37: 14:103396260-103396260
GRCh38: 14:102929923-102929923
26 CUBN NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) Deletion Likely pathogenic 599133 rs1564443979 GRCh37: 10:16994323-16994323
GRCh38: 10:16952324-16952324
27 CUBN NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) SNV Likely pathogenic 599134 rs1564379463 GRCh37: 10:16882412-16882412
GRCh38: 10:16840413-16840413
28 CUBN NM_001081.4(CUBN):c.5549-2A>C SNV Likely pathogenic 599158 rs1564435513 GRCh37: 10:16981148-16981148
GRCh38: 10:16939149-16939149
29 CUBN NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) SNV Likely pathogenic 599173 rs1564492988 GRCh37: 10:17087950-17087950
GRCh38: 10:17045951-17045951
30 AMN NM_030943.3(AMN):c.760+1G>A SNV Likely pathogenic 532205 rs1555381485 GRCh37: 14:103395874-103395874
GRCh38: 14:102929537-102929537
31 CUBN NM_001081.3(CUBN):c.1230+1G>A SNV Likely pathogenic 56318 rs386833766 GRCh37: 10:17147455-17147455
GRCh38: 10:17105456-17105456
32 CUBN NM_001081.3(CUBN):c.1436C>G (p.Ser479Ter) SNV Likely pathogenic 56319 rs386833767 GRCh37: 10:17145218-17145218
GRCh38: 10:17103219-17103219
33 CUBN NM_001081.3(CUBN):c.1526del (p.Gly509fs) Deletion Likely pathogenic 56320 rs386833768 GRCh37: 10:17145128-17145128
GRCh38: 10:17103129-17103129
34 CUBN NM_001081.3(CUBN):c.1530G>A (p.Lys510=) SNV Likely pathogenic 56321 rs386833769 GRCh37: 10:17145124-17145124
GRCh38: 10:17103125-17103125
35 CUBN NM_001081.3(CUBN):c.1838del (p.Gly613fs) Deletion Likely pathogenic 56322 rs386833770 GRCh37: 10:17130272-17130272
GRCh38: 10:17088273-17088273
36 CUBN NM_001081.3(CUBN):c.1951C>T (p.Arg651Ter) SNV Likely pathogenic 56324 rs182512508 GRCh37: 10:17127755-17127755
GRCh38: 10:17085756-17085756
37 CUBN NM_001081.3(CUBN):c.2068A>G (p.Ile690Val) SNV Likely pathogenic 56325 rs386833772 GRCh37: 10:17127638-17127638
GRCh38: 10:17085639-17085639
38 CUBN NM_001081.3(CUBN):c.2486C>T (p.Ser829Leu) SNV Likely pathogenic 56326 rs386833773 GRCh37: 10:17113564-17113564
GRCh38: 10:17071565-17071565
39 CUBN NM_001081.3(CUBN):c.250C>T (p.Gln84Ter) SNV Likely pathogenic 56327 rs386833774 GRCh37: 10:17171122-17171122
GRCh38: 10:17129123-17129123
40 CUBN NM_001081.3(CUBN):c.2515_2533del (p.Glu839fs) Deletion Likely pathogenic 56328 rs386833775 GRCh37: 10:17113517-17113535
GRCh38: 10:17071518-17071536
41 CUBN NM_001081.3(CUBN):c.252+1G>A SNV Likely pathogenic 56329 rs386833776 GRCh37: 10:17171119-17171119
GRCh38: 10:17129120-17129120
42 CUBN NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) Deletion Likely pathogenic 56330 rs386833777 GRCh37: 10:17113435-17113436
GRCh38: 10:17071436-17071437
43 CUBN NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter) SNV Likely pathogenic 56331 rs386833778 GRCh37: 10:17110722-17110722
GRCh38: 10:17068723-17068723
44 CUBN NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter) SNV Likely pathogenic 56332 rs386833779 GRCh37: 10:17110122-17110122
GRCh38: 10:17068123-17068123
45 CUBN NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter) SNV Likely pathogenic 56333 rs386833780 GRCh37: 10:17107590-17107590
GRCh38: 10:17065591-17065591
46 CUBN NM_001081.3(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) Deletion Likely pathogenic 56334 rs386833781 GRCh37: 10:17107550-17107550
GRCh38: 10:17065551-17065551
47 CUBN NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly) SNV Likely pathogenic 56335 rs386833783 GRCh37: 10:17087101-17087101
GRCh38: 10:17045102-17045102
48 CUBN NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe) SNV Likely pathogenic 56336 rs386833784 GRCh37: 10:17085906-17085906
GRCh38: 10:17043907-17043907
49 CUBN NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) SNV Likely pathogenic 6689 rs121434430 GRCh37: 10:17083159-17083159
GRCh38: 10:17041160-17041160
50 CUBN NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter) SNV Likely pathogenic 56337 rs386833785 GRCh37: 10:17083050-17083050
GRCh38: 10:17041051-17041051

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
13.97 UMPS TPK1 TKT TCN2 TCN1 SLC19A2
2
Show member pathways
12.1 TPK1 TCN2 TCN1 SLC19A2 SLC19A1 MTRR
3
Show member pathways
12.03 UMPS TPK1 MTHFD1 DHFR
4
Show member pathways
12.03 TCN2 MTRR MTR MTHFR MTHFD1 DHFR
5
Show member pathways
12.03 TP53 TCN2 TCN1 SLC19A1 MTRR MTR
6
Show member pathways
11.83 TCN2 MTRR MTR MMADHC CUBN CBLIF
7
Show member pathways
11.63 UMPS TP53 MTHFR DHFR
8 11.14 SLC19A1 MTHFR DHFR
9 11.13 TCN2 TCN1 MTRR MTR MMADHC LMBRD1
10 11.11 TCN2 SLC19A2 SLC19A1 LMBRD1 CUBN CBLIF
11
Show member pathways
10.45 CUBN CBLIF AMN
12
Show member pathways
10.1 MTRR MTR

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 apical plasma membrane GO:0016324 9.46 SLC19A1 CUBN CBLIF AMN
2 lysosomal lumen GO:0043202 9.13 TCN2 CUBN CBLIF
3 brush border membrane GO:0031526 8.8 SLC19A1 CUBN AMN

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.58 MTRR MTR MTHFD1
2 axon regeneration GO:0031103 9.57 MTR DHFR
3 tetrahydrofolate metabolic process GO:0046653 9.56 MTHFR DHFR
4 methionine biosynthetic process GO:0009086 9.56 MTRR MTR MTHFR MTHFD1
5 tetrahydrofolate interconversion GO:0035999 9.55 MTHFR MTHFD1
6 folic acid metabolic process GO:0046655 9.55 SLC19A1 MTRR MTHFR MTHFD1 DHFR
7 high-density lipoprotein particle clearance GO:0034384 9.54 CUBN AMN
8 cobalt ion transport GO:0006824 9.54 TCN2 TCN1 CBLIF
9 homocysteine metabolic process GO:0050667 9.52 MTRR MTHFR
10 folic acid transport GO:0015884 9.51 SLC19A2 SLC19A1
11 methionine metabolic process GO:0006555 9.5 MTRR MTHFR MTHFD1
12 vitamin transport GO:0051180 9.49 SLC19A2 SLC19A1
13 vitamin transmembrane transport GO:0035461 9.48 SLC19A2 SLC19A1
14 sulfur amino acid metabolic process GO:0000096 9.46 MTRR MTR
15 thiamine-containing compound metabolic process GO:0042723 9.43 TPK1 SLC19A2
16 cobalamin transport GO:0015889 9.43 TCN2 TCN1 LMBRD1 CUBN CBLIF AMN
17 cobalamin metabolic process GO:0009235 9.28 TCN2 TCN1 MTRR MTR MMADHC LMBRD1

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

# Name GO ID Score Top Affiliating Genes
1 NADPH binding GO:0070402 9.37 MTRR DHFR
2 folic acid binding GO:0005542 9.32 SLC19A1 DHFR
3 vitamin transmembrane transporter activity GO:0090482 9.26 SLC19A2 SLC19A1
4 folic acid transmembrane transporter activity GO:0008517 9.16 SLC19A2 SLC19A1
5 NADP binding GO:0050661 9.13 MTRR MTHFR DHFR
6 cobalamin binding GO:0031419 9.1 TCN2 TCN1 MTR LMBRD1 CUBN CBLIF

Sources for Megaloblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....