MCID: VTM002
MIFTS: 51

Vitamin B12 Deficiency malady

Summaries for Vitamin B12 Deficiency

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8Disease Ontology, 32MalaCards
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Disease Ontology:8 A vitamin metabolic disorder that results from low blood levels of vitamin b12.

MalaCards: Vitamin B12 Deficiency, also known as cobalamin deficiency, is related to deficiency anemia and dementia. An important gene associated with Vitamin B12 Deficiency is MTR (5-methyltetrahydrofolate-homocysteine methyltransferase), and among its related pathways are glycine biosynthesis I and Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA. The compounds methyl-group and estrogen have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, testes and bone, and related mouse phenotype homeostasis/metabolism.

Aliases & Classifications for Vitamin B12 Deficiency

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8Disease Ontology, 22GTR, 10DISEASES, 44Novoseek, 60UMLS
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Aliases & Descriptions:

vitamin b12 deficiency 8 10 44
cobalamin deficiency 8 22
vitamin b 12 deficiency 60
hypocobalaminemia 8


External Ids:

Disease Ontology8 DOID:0050731

Related Diseases for Vitamin B12 Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Vitamin B12 Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 196)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia31.2TF, MTR, GIF, FTH1, CD79A, TCN1
2dementia30.9MTR, PON1, GPX3
3megaloblastic anemia30.9MTHFR, MTR, GIF, TCN2
4hyperhomocysteinemia30.8MMD, PON1, MTR, MTHFR
5pernicious anemia30.7GAST, CBL, GIF, TCN1, TCN2
6iron deficiency anemia30.7TF
7multiple sclerosis30.7MTR, PON1, ADAM17
8folic acid deficiency anemia30.4MTHFR, MTR
9homocystinuria30.4MTHFR, MTR, MUT, MMD, TCN2
10gastritis30.4CD79A, GIF, GAST
11infertility30.4CGA, PON1, CD79A
12diabetes mellitus30.4TF, MTHFR, PON1, FTH1, CD79A, GPT
13hypothyroidism30.2CGA
14graves' disease30.2CGA
15ischemia30.2PON1
16adenocarcinoma30.2GAST, PSG2
17hypertension30.2MTHFR, CD79A
18pneumonia30.2CD79A, PSG2
19obesity30.2GPT, PON1
20myeloma30.2CD79A, PSG2
21alzheimer's disease30.2MTR, PON1, ADAM17
22thyroiditis30.2CGA, CD79A
23acute leukemia30.2CBL, MTHFR
24hepatitis30.2GPT, PON1, TF
25leukemia30.2PSG2, MTHFR, MTR, CBL, CD79A, TCN2
26breast cancer30.1PSG2, MTHFR, MTR, PON1, CBL, FTH1
27methylmalonic acidemia30.0MTHFR, MTR, MUT, TCN2
28thrombocytopenia30.0CD79A, GPT
29neuropathy10.7
30pancytopenia10.6
31cerebritis10.4
32atrophic gastritis10.4
33transcobalamin ii deficiency10.4
34phenylketonuria10.4
35glossitis10.4
36peripheral neuropathy10.4
37megaloblastic anemia-1, finnish type10.4
38burns10.3
39coronary artery disease10.3
40frontotemporal dementia10.3
41celiac disease10.3
42poems syndrome10.3
43agammaglobulinemia10.3
44hemolytic anemia10.3
45psychotic disorder10.3
46intrinsic factor deficiency10.3
47qualitative platelet defect10.2
48lactose intolerance10.2
49methylmalonic aciduria and homocystinuria type cbld10.2
50methylmalonic aciduria and homocystinuria type cblf10.2

Graphical network of the top 20 diseases related to Vitamin B12 Deficiency:



Diseases related to vitamin b12 deficiency

Clinical Features for Vitamin B12 Deficiency

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Drugs & Therapeutics for Vitamin B12 Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Vitamin B12 Deficiency

Drug clinical trials:

Search ClinicalTrials for Vitamin B12 Deficiency

Search NIH Clinical Center for Vitamin B12 Deficiency

Search CenterWatch for Vitamin B12 Deficiency

Genetic Tests for Vitamin B12 Deficiency

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22GTR
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Genetic tests related to Vitamin B12 Deficiency:

id Genetic test Affiliating Genes
1 Cobalamin Deficiency22

Anatomical Context for Vitamin B12 Deficiency

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32MalaCards
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MalaCards organs/tissues related to Vitamin B12 Deficiency:

32
Spinal cord, Testes, Bone, Breast, Skin, Bone marrow, Brain, Heart, Liver, Thyroid, Small intestine, Smooth muscle, Eye, Endothelial

Animal Models for Vitamin B12 Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Vitamin B12 Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.1ADAM17, TF, CGA, MTHFR, MTR, PON1

Publications for Vitamin B12 Deficiency

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50PubMed
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Articles related to Vitamin B12 Deficiency:

(show top 50)    (show all 529)
idTitleAuthorsYear
1
Dermatological findings of vitamin B12 deficiency and resolving time of these symptoms. (24303868)
2013
2
Brief report: childhood disintegrative disorder as a likely manifestation of vitamin B12 deficiency. (23334842)
2013
3
A puzzle of hemolytic anemia, iron and vitamin B12 deficiencies in a 52-year-old male. (24083040)
2013
4
Evaluation of peripapillary retinal nerve fiber layer thickness in patients with vitamin B12 deficiency using spectral domain optical coherence tomography. (23317171)
2013
5
What should I know before ordering a bone marrow aspiration/biopsy in patients with vitamin B12 deficiency? (23839610)
2013
6
Hemolysis and schistocytosis in the emergency department: consider pseudothrombotic microangiopathy related to vitamin B12 deficiency. (23842487)
2013
7
Vitamin B12 deficiency and hyperhomocysteinemia as correlates of cardiovascular risk factors in Indian subjects with coronary artery disease. (23473764)
2013
8
Significant association of deficiency of hemoglobin, iron and vitamin B12, high homocysteine level, and gastric parietal cell antibody positivity with atrophic glossitis. (22188475)
2012
9
Vitamin B12 deficiency in India: mean corpuscular volume is an unreliable screening parameter. (23998863)
2012
10
Solid food refusal as the presenting sign of vitamin B12 deficiency in a breastfed infant. (21735052)
2011
11
Vitamin B12 deficiency, hyperhomocysteinemia and thrombosis: a case and control study. (21475950)
2011
12
More adverse neurological consequences of metformin-induced vitamin B12 deficiency. (21886057)
2011
13
Folic Acid and vitamin B12 supplementation improves coronary flow reserve in elderly subjects with vitamin B12 deficiency. (20851295)
2010
14
MTHFR polymorphisms involved in vitamin B12 deficiency associated with atrophic gastritis. (19521764)
2009
15
Rare sensory and autonomic disturbances associated with vitamin B12 deficiency. (19720386)
2009
16
Prevalence of iron, folate, and vitamin B12 deficiency anemia after laparoscopic Roux-en-Y gastric bypass. (18214631)
2008
17
Masked vitamin B12 deficiency anemia as if it was haemolytic anemia. (19046706)
2008
18
High rate of maternal vitamin B12 deficiency nearly a decade after Canadian folic acid flour fortification. (18337285)
2008
19
In vitamin B12 deficiency, higher serum folate is associated with increased homocysteine and methylmalonic acid concentrations. (18234852)
2008
20
Renal impairment compromises the use of total homocysteine and methylmalonic acid but not total vitamin B12 and holotranscobalamin in screening for vitamin B12 deficiency in the aged. (17311508)
2007
21
Simple steps to stamp out vitamin B12 deficiency. (17198175)
2007
22
"Mobile phone sign" in early vitamin B12 deficiency. (16504987)
2006
23
Magnetic resonance imaging of the posterior columns in vitamin B12 deficiency. (15313854)
2004
24
Severe vitamin B12 deficiency in an infant associated with a maternal deficiency and a strict vegetarian diet. (15087959)
2004
25
Nova Scotia moose mystery--a moose sickness related to cobalt- and vitamin B12 deficiency. (14654277)
2004
26
Predictors of vitamin B12 deficiency: age and Helicobacter pylori load of antral mucosa. (14593537)
2003
27
Vitamin B12 deficiency. (12643357)
2003
28
The effects of dietary vitamin B12 deficiency on sperm maturation in developing and growing male rats. (12692404)
2003
29
Intermediate effects of the ileocaecal urinary reservoir (Charleston pouch 1) on serum vitamin B12 concentrations: can vitamin B12 deficiency be prevented? (12699478)
2003
30
Images in clinical medicine. Neurologic manifestations of vitamin B12 deficiency. (12773648)
2003
31
Vitamin B12 deficiency among elderly patients an important diagnosis. (15112856)
2002
32
Iron and vitamin B12 deficiency anaemia in a vegetarian: a diagnostic approach by enzyme-linked immunosorbent assay and radioimmunoassay. (12096380)
2002
33
Food cobalamin malabsorption: a usual cause of vitamin B12 deficiency. (10888981)
2000
34
Nitrous oxide can cause cobalamin deficiency. Vitamin B12 is a simple and cheap remedy]. (10584542)
1999
35
MRI of the spinal cord in myelopathy complicating vitamin B12 deficiency: two additional cases and a review of the literature. (10344513)
1999
36
Vitamin B12 deficiency and nitrous oxide. (10232347)
1999
37
Gastrectomy osteopenia in the rat: the role of vitamin B12 deficiency and the type of reconstruction of the digestive tract. (9831699)
1998
38
Vitamin B12 deficiency and subclinical infection with Giardia lamblia in an adolescent with agammaglobulinemia of Bruton. (9007660)
1997
39
Serum erythropoietin and erythroid activity in vitamin B12 deficiency. (9107086)
1997
40
Neurologic findings of vitamin B12 deficiency: presentation of 7 cases. (8819623)
1996
41
Images in clinical medicine. Vitamin B12 deficiency. (8668215)
1996
42
Urinary methylmalonic acid to detect vitamin B12 deficiency. (7723154)
1995
43
Vitamin B12 deficiency: underdiagnosed, overtreated? (7601897)
1995
44
Vitamin B12 deficiency is the primary cause of megaloblastic anaemia in Zimbabwe. (7880241)
1994
45
Correction of the DNA synthesis defect in vitamin B12 deficiency by tetrahydrofolate using the dU suppression test. (8136293)
1993
46
Glycosylated haemoglobin (HbA1c) in iron- and vitamin B12 deficiency. (2299304)
1990
47
Sensory peripheral neuropathy of vitamin B12 deficiency: a primary demyelinating disease? (2835439)
1988
48
Atrophic gastritis and vitamin B12 deficiency. (3571800)
1987
49
Vitamin B12 deficiency and lack of intrinsic factor associated with a smooth muscle tumor of the stomach. Remission after surgery. (4436038)
1974
50
Effect of pyridoxine deficiency on the absorption of vitamin B12. (13479116)
1957

Genetic Variations for Vitamin B12 Deficiency

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Expression for genes affiliated with Vitamin B12 Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Vitamin B12 Deficiency

Search GEO for disease gene expression data for Vitamin B12 Deficiency.

Pathways for genes affiliated with Vitamin B12 Deficiency

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37NCBI BioSystems Database, 53Reactome, 29KEGG
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Compounds for genes affiliated with Vitamin B12 Deficiency

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Vitamin B12 Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 91)
idCompoundScoreTop Affiliating Genes
1methyl-group4410.5MTHFR, MTR
2estrogen4410.5CD79A
3sialic acid4410.5CGA
4l-methylmalonyl-coa4410.4MTR, MUT
5uric acid44 2411.4GPX3
6corrinoid4410.4MTR, TCN2, TCN1
7cobinamide44 2411.4TCN1, MTR
8ferrous ammonium sulfate4410.2TF, FTH1
9alpha tocopherol4410.2GPX3, TF
10adenosylcobalamin44 2411.2MUT, TCN2, MTHFR, MTR
11cystathionine4410.1MTR, TCN2, PON1, MTHFR
12fe2+4410.0TF, FTH1, PON1
13methylcobalamin44 2411.0MTHFR, TCN2, TCN1, MUT, MTR
14cyanocobalamin49 11 2412.0TCN2, TCN1, MUT, MTR, MTHFR
15hydroxocobalamin44 1111.0MTHFR, MUT, TCN1, TCN2, MTR
16cobalt44 2411.0MUT, TCN1, GIF, TCN2, MTR
17copper44 2411.0FTH1, MTR
18vitamin b64410.0MTHFR, TCN2, MTR
19clarithromycin44 1110.9GAST, GPT, CD79A
20p002449.9ADAM17, GPT, MTHFR, PSG2
21biotin44 11 2411.9TF, MUT, CD79A, TCN2
22s-adenosylmethionine44 11 2411.8ACADVL, THUMPD2, MTR, MTHFR
23methylmalonic acid44 2410.7MTHFR, TCN2, TCN1, MUT, GAST, MTR
248-isoprostane449.7PON1, GPX3, TF
25ifosfamide44 1110.6GPX3, CGA, TF
26histidine449.6CBL, MUT, GAST, FTH1, MTR
27methionine449.5TCN1, PON1, MUT, MTHFR, ADAM17, TCN2
28carbachol44 28 1111.5GAST, CGA, CD79A, TF
29betacarotene449.5GPX3, TF, PON1, CD79A, MTHFR
30methotrexate44 49 1111.4GPT, MTR, MTHFR, CGA, TF, CD79A
31vitamin d449.4GPT, CD79A, MTHFR, CGA, GAST
32vitamin a44 11 2411.4GPX3, CGA, GPT, PON1, TF
33carbon449.3FTH1, MTR, MTHFR, CGA
34fibrinogen449.3CD79A, CBL, PON1, MTHFR, TF, GPT
35h2o2449.3PON1, ADAM17, CGA, CBL, FTH1, CD79A
36homocysteine44 2410.3TCN1, MTR, PON1, CBL, MTHFR, GPX3
37heparin44 28 11 2412.2MTHFR, GPX3, CD79A, ADAM17, PON1, CGA
38cyclosporin a44 28 5911.2MTHFR, GPT, TF, CGA, CD79A
39cobalamin44 2410.2MTR, MTHFR, GAST, CBL, GIF, TCN2
40glucose449.2GAST, ACADVL, GPX3, CBL, PSG2
41histamine44 28 2411.1CGA, TF, ADAM17, GAST, CD79A, CBL
42cholesterol44 28 11 2412.0TF, ADAM17, GPX3, GPT, PON1, MTHFR
43thyroxine44 249.8GAST, TF, CGA, PON1, CD79A, GPT
44folate448.8CGA, PON1, TCN2, GAST, TF, MTHFR
45lipid448.7GPT, PON1, CBL, PSG2, GPX3, ACADVL
46ascorbic acid44 249.7GAST, GPX3, CD79A, FTH1, PON1, MTHFR
47glutamate448.5GAST, TF, MTHFR, CGA, MTR, CBL
48alanine448.3GPX3, CBL, GAST, GPT, MTHFR, PON1
49vitamin b12448.1TCN2, GIF, CBL, PON1, MTR, MTHFR
50creatinine447.9ACADVL, GPX3, GPT, CD79A, PON1, MTR

GO Terms for genes affiliated with Vitamin B12 Deficiency

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16Gene Ontology
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Cellular components related to Vitamin B12 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.6TCN2, TCN1, GIF, PON1, CGA, TF

Biological processes related to Vitamin B12 Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:05066710.1MUT, MTHFR
2cobalamin transportGO:01588910.0TCN2, TCN1, GIF
3cobalt ion transportGO:0068249.9GIF, TCN1, TCN2
4cobalamin metabolic processGO:0092359.7TCN2, TCN1, MUT, GIF, MTR
5water-soluble vitamin metabolic processGO:0067679.5MTHFR, MTR, GIF, MUT, TCN1, TCN2
6vitamin metabolic processGO:0067669.5MTHFR, MTR, GIF, MUT, TCN1, TCN2
7small molecule metabolic processGO:0442818.6MTHFR, MTR, GIF, MUT, GPT, TCN1

Molecular functions related to Vitamin B12 Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ferric iron bindingGO:00819910.0FTH1, TF
2modified amino acid bindingGO:0723419.8MUT, MTHFR
3cobalamin bindingGO:0314199.5TCN2, TCN1, MUT, GIF, MTR

Products for genes affiliated with Vitamin B12 Deficiency

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Sources for Vitamin B12 Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet