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 sialic acid 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, 10DISEASES, 44Novoseek, 22GTR, 60UMLS
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Aliases & Descriptions:

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


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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, Heart, Bone marrow, Brain, Liver, Eye, Thyroid, Endothelial, Smooth muscle, Small intestine

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
Postural Orthostatic Tachycardia Syndrome (POTS) and Vitamin B12 Deficiency in Adolescents. (24366986)
2014
2
Detection of vitamin B12 deficiency in alcohol abuse. (23398673)
2014
3
Low Serum Vit. B12 Level Does Not Mean Vit. B12 Deficiency - Problems Related to the Diagnosis of Vitamin B12 Deficiency. (24047154)
2013
4
Isolated Cerebellar Involvement in Vitamin B12 Deficiency: A Case Report. (24346315)
2013
5
Retinopathy in a patient with Fanconi anemia and vitamin B12 deficiency. (22056860)
2012
6
Vitamin B12 deficiency in Australian residential aged care facilities. (22456786)
2012
7
Unilateral tremor induced by risperidone in a patient with acute mania: vitamin B12 deficiency as possible mediating factor. (22701262)
2012
8
Holotranscobalamin is a useful marker of vitamin B12 deficiency in alcoholics. (22481895)
2012
9
Re: Honzik T, Adamovicova A, Smolka V, Magner M, Hruba E, Zeman J. Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned? Eur Jour Ped Neurol 14 (2010) 488-495. (21295506)
2011
10
Burning mouth syndrome and vitamin B12 deficiency. (20569292)
2011
11
Charles Bonnet syndrome and vitamin B12 deficiency: a case report. (20633753)
2010
12
"Anchor"-shaped bright posterior column in a patient with vitamin B12 deficiency myelopathy. (19417166)
2009
13
Functional vitamin B12 deficiency. (19151237)
2009
14
Oral manifestations of vitamin B12 deficiency: a case report. (19744365)
2009
15
An investigation of vitamin B12 deficiency in elderly inpatients in neurology department. (19633703)
2009
16
Vitamin B12 deficiency following restorative proctocolectomy: is it really related to surgical procedure? (18005194)
2008
17
Helicobacter pylori, a causative agent of vitamin B12 deficiency. (19745500)
2008
18
Neurologic disease and vitamin B12 deficiency. (17920997)
2007
19
Oral vitamin B12 versus intramuscular vitamin B12 for vitamin B12 deficiency: a systematic review of randomized controlled trials. (16585128)
2006
20
Myelopathy in SjAPgren's syndrome: a causative role for cobalamin (vitamin B12) deficiency. (16620149)
2006
21
Cellular folate vitamer distribution during and after correction of vitamin B12 deficiency: a case for the methylfolate trap. (16445837)
2006
22
Vitamin B12 deficiency presenting with an acute reversible extrapyramidal syndrome. (15805674)
2005
23
Oral cyanocobalamin supplementation in older people with vitamin B12 deficiency: a dose-finding trial. (15911731)
2005
24
The platelet count/mean corpuscular hemoglobin ratio distinguishes combined iron and vitamin B12 deficiency from uncomplicated iron deficiency. (15914358)
2005
25
Orthostatic tolerance in older patients with vitamin B12 deficiency before and after vitamin B12 replacement. (15095047)
2004
26
Usefulness of oral cyanocobalamin therapy in severe hematologic manifestations related to vitamin B12 deficiency. (15122008)
2004
27
Involuntary movements associated with vitamin B12 deficiency. (14499210)
2003
28
Prerequisites for establishing general recommendations for diagnosis and treatment of vitamin B12 deficiency and cost-utility evaluation of these guidelines. (14599159)
2003
29
The prevalence of hyperhomocysteinemia, methylene tetrahydrofolate reductase C677T mutation, and vitamin B12 and folate deficiency in patients with chronic venous insufficiency. (14603192)
2003
30
Acute dementia with delirium due to vitamin B12 deficiency: a case report. (12269601)
2002
31
Missed diagnosis of vitamin B12 deficiency presenting with paraesthetic symptoms. (12137447)
2002
32
Independent effect of vitamin B12 deficiency on hematological status in older Chinese vegetarian women. (12111763)
2002
33
Homocysteine and methylmalonic acid as indicators of folate and vitamin B12 deficiency in pregnancy. (11553056)
2001
34
Approaches to vitamin B12 deficiency. Early treatment may prevent devastating complications. (11467046)
2001
35
Shaky-leg syndrome and vitamin B12 deficiency. (10744502)
2000
36
Urinary methylmalonic acid/creatinine ratio: a gold standard test for tissue vitamin B12 deficiency. (10484267)
1999
37
Cerebral white matter lesions associated with vitamin B12 deficiency. (9674843)
1998
38
Vitamin B12 deficiency in an adult phenylketonuric patient. (9266399)
1997
39
Does folic acid harm people with vitamin B12 deficiency? (7796091)
1995
40
Screening the older population for cobalamin (vitamin B12) deficiency. (7594166)
1995
41
Screening for vitamin B12 deficiency in psychiatric patients. (7996297)
1994
42
Correction of the DNA synthesis defect in vitamin B12 deficiency by tetrahydrofolate: evidence in favour of the methyl-folate trap hypothesis as the cause of megaloblastic anaemia in vitamin B12 deficiency. (8518179)
1993
43
Metabolic abnormalities in cobalamin (vitamin B12) and folate deficiency. (7901104)
1993
44
Maternal vegan diet causing a serious infantile neurological disorder due to vitamin B12 deficiency. (2044594)
1991
45
Chronic giardiasis with vitamin B12 and folate deficiency presenting with psychiatric symptoms. (2926724)
1989
46
Adult celiac disease (celiac sprue), pernicious anemia and IgA deficiency. Case report and review of the relationships between vitamin B12 deficiency, small intestinal mucosal disease and immunoglobulin deficiency. (3734360)
1986
47
Gaucher's disease: a case report with coincidental vitamin B12 deficiency anaemia. (4055326)
1985
48
Lymphocytic hypophysitis. Associated with antiparietal cell antibodies and vitamin B12 deficiency. (6615105)
1983
49
Vitamin B12 deficiency in an infant strictly breast-fed by a mother with latent pernicious anemia. (7086591)
1982
50
Pernicious anemia and other forms of vitamin B12 deficiency. (5798776)
1969

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
2sialic acid4410.5CGA
3estrogen4410.5CD79A
4l-methylmalonyl-coa4410.4MTR, MUT
5uric acid44 2411.4GPX3
6corrinoid4410.4TCN2, TCN1, MTR
7cobinamide44 2411.4TCN1, MTR
8ferrous ammonium sulfate4410.2FTH1, TF
9alpha tocopherol4410.2GPX3, TF
10adenosylcobalamin44 2411.2TCN2, MUT, MTR, MTHFR
11cystathionine4410.1MTHFR, MTR, PON1, TCN2
12fe2+4410.1TF, PON1, FTH1
13methylcobalamin44 2411.0MTHFR, MTR, MUT, TCN1, TCN2
14cyanocobalamin49 11 2412.0MTHFR, MTR, MUT, TCN1, TCN2
15vitamin b64410.0MTHFR, MTR, TCN2
16hydroxocobalamin44 1111.0MTHFR, MTR, MUT, TCN1, TCN2
17cobalt44 2411.0MTR, GIF, MUT, TCN1, TCN2
18copper44 2411.0FTH1, MTR
19clarithromycin44 1110.9GAST, CD79A, GPT
20p002449.9ADAM17, GPT, MTHFR, PSG2
21biotin44 11 2411.9TCN2, CD79A, MUT, TF
22s-adenosylmethionine44 11 2411.8MTHFR, MTR, THUMPD2, ACADVL
23methylmalonic acid44 2410.7GAST, MTHFR, MTR, MUT, TCN1, TCN2
248-isoprostane449.7GPX3, PON1, TF
25histidine449.6GAST, MTR, CBL, FTH1, MUT
26ifosfamide44 1110.5TF, CGA, GPX3
27methionine449.5MTHFR, MTR, PON1, MUT, TCN1, TCN2
28carbachol44 28 1111.5GAST, TF, CGA, CD79A
29betacarotene449.5TF, MTHFR, PON1, CD79A, GPX3
30methotrexate44 49 1111.4TF, CGA, MTHFR, MTR, CD79A, GPT
31vitamin d449.4GAST, CGA, MTHFR, CD79A, GPT
32vitamin a44 11 2411.4TF, CGA, PON1, GPT, GPX3
33carbon449.3CGA, MTHFR, MTR, FTH1
34fibrinogen449.3TF, MTHFR, PON1, CBL, CD79A, GPT
35h2o2449.3CGA, PON1, CBL, FTH1, CD79A, ADAM17
36homocysteine44 2410.3MTHFR, MTR, PON1, CBL, GPX3, TCN1
37heparin44 28 11 2412.2CGA, MTHFR, PON1, CD79A, GPX3, ADAM17
38cyclosporin a44 28 5911.2GPT, CD79A, MTHFR, CGA, TF
39cobalamin44 2410.2TCN2, TCN1, MUT, GIF, CBL, MTR
40glucose449.2PSG2, GAST, CBL, GPX3, ACADVL
41histamine44 28 2411.1GAST, TF, CGA, CBL, CD79A, ADAM17
42cholesterol44 28 11 2412.0TF, MTHFR, PON1, GPT, GPX3, ADAM17
43thyroxine44 249.8GAST, TF, CGA, PON1, CD79A, GPT
44folate448.8GAST, TF, CGA, MTHFR, MTR, PON1
45lipid448.7PSG2, PON1, CBL, FTH1, GPT, GPX3
46ascorbic acid44 249.7GAST, TF, CGA, MTHFR, PON1, FTH1
47glutamate448.5GAST, TF, CGA, MTHFR, MTR, CBL
48alanine448.3GAST, TF, CGA, MTHFR, PON1, CBL
49vitamin b12448.1CBL, PON1, MTR, MTHFR, TF, GAST
50creatinine447.9ACADVL, TCN2, GPX3, GPT, CD79A, PON1

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