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
Undetected vitamin B12 deficiency due to false normal assay results. (23356970)
2013
2
A study of neurobehavioral, clinical psychometric, and P3 changes in vitamin B12 deficiency neurological syndrome. (22781060)
2013
3
Glossitis secondary to vitamin B12 deficiency anemia. (23359038)
2013
4
Diffusion tensor tractography and neuropsychological assessment in patients with vitamin B12 deficiency. (24322997)
2013
5
Cranial magnetic resonance imaging findings of nutritional vitamin B12 deficiency in 15 hypotonic infants. (21903432)
2012
6
Vitamin B12 deficiency causing hyperhomocysteinaemia and cerebral venous sinus thrombosis. (22616971)
2012
7
Vitamin B12 deficiency mimicking NMO spectrum disorder. (22760101)
2012
8
Prevalence of folate and vitamin B12 deficiency in Mexican children aged 1 to 6 years in a population-based survey. (22535170)
2012
9
Nutrition-related vitamin B12 deficiency in patients in Pakistan with type 2 diabetes mellitus not taking metformin. (20061275)
2010
10
Metformin-induced vitamin B12 deficiency presenting as a peripheral neuropathy. (20134380)
2010
11
Hyperhomocysteinaemia and vitamin B12 deficiency: the long-term effects in cardiovascular disease. (16763373)
2007
12
Vitamin B12 deficiency following restorative proctocolectomy. (17509054)
2007
13
If high folic acid aggravates vitamin B12 deficiency what should be done about it? (17972439)
2007
14
Maternal vitamin B12 deficiency affects spermatogenesis at the embryonic and immature stages in rats. (17300685)
2007
15
Metformin and vitamin B12 deficiency: the role of H2 receptor antagonists and proton pump inhibitors. (17264140)
2007
16
The effect of recombinant human intrinsic factor on the uptake of vitamin B12 in patients with evident vitamin B12 deficiency. (16704961)
2006
17
Small bowel obstruction caused by phytobezoar and associated with vitamin B12 deficiency. (17004541)
2006
18
Atrophic glossitis from vitamin B12 deficiency: a case misdiagnosed as burning mouth disorder. (17209796)
2006
19
Vitamin B12 deficiency and gastric histopathology in older patients. (16437651)
2005
20
Folic acid as ultimate in disease prevention: beware of vitamin B12 deficiency. (15044308)
2004
21
Megaloblastic anaemia in vitamin B12 deficiency. (12654160)
2003
22
Clinically and MRI documented funicular myelosis in a patient with metabolical vitamin B12 deficiency but normal vitamin B12 serum level. (12928928)
2003
23
Multiple vascular abnormalities and a paradoxical combination of vitamin B12 deficiency and thrombocytosis in a case with POEMS syndrome. (14673584)
2003
24
Dietary vitamin B12 deficiency in an adolescent white boy. (12037034)
2002
25
Vitamin B12 deficiency. (12020555)
2002
26
Vitamin B12 deficiency in the elderly. A major contributor to falls. (12420498)
2001
27
Homocysteine and thiol metabolites in vitamin B12 deficiency. (11115425)
2001
28
Vitamin B12 deficiency in untreated celiac disease. (11280545)
2001
29
Is isolated vitamin B12 deficiency a sufficient causative factor of dementia? (11509087)
2001
30
Vitamin B12 deficiency in children and adolescents. (11148506)
2001
31
Cobalamin-responsive psychosis as the sole manifestation of vitamin B12 deficiency. (11574992)
2001
32
Infratentorial and supratentorial leukoencephalopathy associated with vitamin B12 deficiency. (17895210)
2000
33
Oral or parenteral therapy for vitamin B12 deficiency. (9950472)
1999
34
Cognitive profile in dementia associated with vitamin B12 deficiency due to pernicious anaemia. (10367704)
1999
35
Improvement of P300 latency by treatment of vitamin B12 deficiency. (9563586)
1998
36
Vitamin B12 deficiency and IVF. (15512051)
1998
37
Scleritis associated with vitamin B12 deficiency. (9740959)
1998
38
Infantile megaloblastosis secondary to maternal vitamin B12 deficiency. (9146943)
1997
39
Vitamin B12 deficiency: a cause of abnormal movements in infants. (9024457)
1997
40
Vitamin B12 deficiency in patients with urinary intestinal diversion. (9179662)
1997
41
MRI appearances in subacute combined degeneration of the spinal cord due to vitamin B12 deficiency. (9010410)
1997
42
Nutritional vitamin B12 deficiency in a breastfed infant following maternal gastric bypass. (8060815)
1994
43
Familial Alzheimer's disease and vitamin B12 deficiency. (7976784)
1994
44
Vitamin B12 deficiency. (8463772)
1993
45
Reversible dementia caused by vitamin B12 deficiency. (8426046)
1993
46
Screening elderly populations for cobalamin (vitamin B12) deficiency using the urinary methylmalonic acid assay by gas chromatography mass spectrometry. (8506883)
1993
47
Central sensory and motor conduction in vitamin B12 deficiency. (1382952)
1992
48
Multiple sclerosis associated with vitamin B12 deficiency. (1898255)
1991
49
Vitamin B12 deficiency. (2278593)
1990
50
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy. (7007598)
1981

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