MCID: VTM002
MIFTS: 46

Vitamin B12 Deficiency malady

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Summaries for Vitamin B12 Deficiency

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8Disease Ontology, 33MalaCards
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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 megaloblastic anemia and hyperhomocysteinemia. An important gene associated with Vitamin B12 Deficiency is TCN1 (transcobalamin I (vitamin B12 binding protein, R binder family)), and among its related pathways are Vitamin digestion and absorption and Carbon metabolism. The compounds cobinamide and 5-Methyltetrahydrofolic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, breast and bone.

Aliases & Classifications for Vitamin B12 Deficiency

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8Disease Ontology, 22GTR, 10DISEASES, 45Novoseek, 62UMLS
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Aliases & Descriptions:

vitamin b12 deficiency 8 10 45
cobalamin deficiency 8 22
vitamin b 12 deficiency 62
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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Graphical network of the top 20 diseases related to Vitamin B12 Deficiency:



Diseases related to vitamin b12 deficiency

Symptoms for Vitamin B12 Deficiency

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Drugs & Therapeutics for Vitamin B12 Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Vitamin B12 Deficiency

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Vitamin B12 Deficiency:

33
Spinal cord, Breast, Bone, Testes, Skin, Heart, Bone marrow, Brain, Liver, Eye, Smooth muscle, Thyroid, Endothelial, Small intestine

Animal Models for Vitamin B12 Deficiency or affiliated genes

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Publications for Vitamin B12 Deficiency

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52PubMed
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Articles related to Vitamin B12 Deficiency:

(show top 50)    (show all 500)
idTitleAuthorsYear
1
Undetected vitamin B12 deficiency due to false normal assay results. (23356970)
2013
2
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. (23900243)
2013
3
Delirium as a result of vitamin B12 deficiency in a vegetarian female patient. (23859997)
2013
4
Cranial magnetic resonance imaging findings of nutritional vitamin B12 deficiency in 15 hypotonic infants. (21903432)
2012
5
Psychotic disorder, hypertension and seizures associated with vitamin B12 deficiency: a case report. (22027500)
2012
6
Involuntary movements after correction of vitamin B12 deficiency: a video-case report. (22591802)
2012
7
Homocystinuria masquerading as vitamin B12 deficiency. (22864044)
2012
8
Vitamin B12 deficiency causing hyperhomocysteinaemia and cerebral venous sinus thrombosis. (22616971)
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
Utility of measuring vitamin B12 and its active fraction, holotranscobalamin, in neurological vitamin B12 deficiency syndromes. (20890610)
2011
11
Functional vitamin B12 deficiency in alcoholics: an intriguing finding in a retrospective study of megaloblastic anemic patients. (20206879)
2010
12
"Anchor"-shaped bright posterior column in a patient with vitamin B12 deficiency myelopathy. (19417166)
2009
13
Prevalence of iron, folate, and vitamin B12 deficiency anemia after laparoscopic Roux-en-Y gastric bypass. (18214631)
2008
14
Serum vitamin B12 deficiency and hyperhomocystinemia: a reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia. (18678379)
2008
15
Effects of maternal vitamin B12 deficiency from end of gestation to weaning on the growth and haematological and immunological parameters in mouse dams and offspring. (18459540)
2008
16
Vitamin B12 deficiency results in the abnormal regulation of serine dehydratase and tyrosine aminotransferase activities correlated with impairment of the adenylyl cyclase system in rat liver. (17761010)
2008
17
Causes and early diagnosis of vitamin B12 deficiency. (19623286)
2008
18
Neurologic disease and vitamin B12 deficiency. (17920997)
2007
19
High frequency of maternal vitamin B12 deficiency as an important cause of infantile vitamin B12 deficiency in Sanliurfa province of Turkey. (16601915)
2006
20
Patient and family fact sheet. Vitamin B12 deficiency and the nervous system. (16688019)
2006
21
Primary SjAPgren's syndrome and vitamin B12 deficiency: preliminary results in 80 patients. (16750953)
2006
22
A pediatric patient with recurrent pseudotumor cerebri and vitamin B12 deficiency. (16326411)
2006
23
Clinical and laboratory features and response to treatment in patients presenting with vitamin B12 deficiency-related neurological syndromes. (15805657)
2005
24
Prevalence of vitamin B12 deficiency in patients with plasma cell dyscrasias. (15937914)
2005
25
Vitamin B12 deficiency presenting with an acute reversible extrapyramidal syndrome. (15805674)
2005
26
Use of metformin is a cause of vitamin B12 deficiency. (14765765)
2004
27
Predictors of vitamin B12 deficiency: age and Helicobacter pylori load of antral mucosa. (14593537)
2003
28
Vitamin B12 deficiency. (12643357)
2003
29
Cobalamin (vitamin B12)-deficiency-induced changes in the proteome of rat cerebrospinal fluid. (12769818)
2003
30
Vitamin B12 deficiency. Recognizing subtle symptoms in older adults. (12650116)
2003
31
Iron and vitamin B12 deficiency anaemia in a vegetarian. (12572200)
2002
32
Vitamin B12 deficiency among elderly patients an important diagnosis. (15112856)
2002
33
Serum acylcarnitines and vitamin B12 deficiency. (12089192)
2002
34
Reversible chorea and focal dystonia in vitamin B12 deficiency. (12140313)
2002
35
Metformin and vitamin B12 deficiency. (11863489)
2002
36
Does hyperhomocysteinemia due to vitamin B12 deficiency associted with Helicobacter pylori infection has a role on cerebral stroke? (12546023)
2002
37
Vitamin B12 deficiency may cause benign familial infantile convulsions: a case report. (10565467)
1999
38
Vitamin B12 deficiency: a new risk factor for breast cancer? (10518411)
1999
39
Delirium associated with vitamin B12 deficiency after pneumonia. (10626095)
1999
40
Improvement of P300 latency by treatment of vitamin B12 deficiency. (9563586)
1998
41
Infantile megaloblastosis secondary to maternal vitamin B12 deficiency. (9146943)
1997
42
Does folic acid harm people with vitamin B12 deficiency? (7796091)
1995
43
Urinary methylmalonic acid to detect vitamin B12 deficiency. (7723154)
1995
44
Nutritional vitamin B12 deficiency in a breastfed infant following maternal gastric bypass. (8060815)
1994
45
Vitamin B12 deficiency. (8463771)
1993
46
Correction of the DNA synthesis defect in vitamin B12 deficiency by tetrahydrofolate using the dU suppression test. (8136293)
1993
47
Vitamin B12 deficiency. (8463772)
1993
48
Prevalence of vitamin B12 deficiency among geriatric outpatients. (1331288)
1992
49
Biologically significant serum vitamin B12 deficiency in multiple sclerosis inadequately documented. (1497491)
1992
50
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

Variations for Vitamin B12 Deficiency

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Expression for genes affiliated with Vitamin B12 Deficiency

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2BioGPS, 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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50PathCards, 30KEGG, 51PharmGKB, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome
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Pathways related to Vitamin B12 Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4GIF, TCN2
2
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.0MTR, MTHFR
3
Show member pathways
thioredoxin pathway38
9.0MTR, MTHFR
4
Show member pathways
Vitamin B12 Metabolism38
8.7GIF, TCN1, MTHFR
5
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
8.5TCN2, MTHFR, MTR
67.5MTR, MTHFR, TCN1, TCN2, GIF
7
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
7.5MTR, MTHFR, TCN1, TCN2, GIF
8
Show member pathways
7.5MTR, MTHFR, TCN1, TCN2, GIF

Compounds for genes affiliated with Vitamin B12 Deficiency

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Vitamin B12 Deficiency according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1cobinamide45 2410.7MTR, TCN1
25-Methyltetrahydrofolic acid249.4MTHFR, MTR
3methyl-group459.4MTHFR, MTR
45,10-methenyltetrahydrofolate459.4MTR, MTHFR
5b vitamins459.4MTHFR, MTR
610-formyltetrahydrofolate459.4MTHFR, MTR
75-methyltetrahydrofolate45 1110.3MTR, MTHFR
8benazepril45 51 1111.3MTR, MTHFR
9tetrahydrofolate459.3MTHFR, MTR
10betaine45 2410.3MTR, MTHFR
11Tetrahydrofolic acid24 1110.3MTR, MTHFR
12corrinoid459.3TCN2, TCN1, MTR
13dihydrofolate459.3MTR, MTHFR
14pyridoxal 5-phosphate459.3MTR, MTHFR
15s-adenosylhomocysteine45 2410.2MTHFR, MTR
16purine45 2410.2MTR, MTHFR
17thymidylate459.2MTR, MTHFR
18s-adenosylmethionine45 24 1111.1MTHFR, MTR
19carbon459.1MTR, MTHFR
20cyclophosphamide45 51 1111.0MTR, MTHFR
21methotrexate51 45 1111.0MTR, MTHFR
22FAD248.9MTHFR, MTR
23adenosylcobalamin45 249.9TCN2, MTHFR, MTR
24cystathionine458.9TCN2, MTHFR, MTR
25vitamin b6458.9TCN2, MTHFR, MTR
26folate458.8MTR, MTHFR, TCN2
27creatinine458.8TCN2, MTHFR, MTR
28cobalt45 249.7MTR, TCN1, TCN2, GIF
29valine458.7MTR, MTHFR
30methylcobalamin45 249.5TCN2, TCN1, MTHFR, MTR
31cyanocobalamin51 24 1110.5TCN2, TCN1, MTHFR, MTR
32hydroxocobalamin45 119.5TCN2, TCN1, MTHFR, MTR
33methylmalonic acid45 249.5MTR, MTHFR, TCN1, TCN2
34homocysteine45 249.4MTR, MTHFR, TCN1, TCN2
35methionine458.4MTR, MTHFR, TCN1, TCN2
36cobalamin45 248.9MTR, MTHFR, TCN1, TCN2, GIF
37vitamin b12457.9GIF, TCN2, TCN1, MTHFR, 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
1lysosomal lumenGO:0432029.3TCN2, GIF
2endosomeGO:0057689.1TCN2, GIF
3extracellular regionGO:0055769.0TCN1, TCN2, GIF

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin transportGO:0158898.9GIF, TCN2, TCN1
2cobalt ion transportGO:0068248.7GIF, TCN2, TCN1
3cobalamin metabolic processGO:0092358.4GIF, TCN2, TCN1, MTR
4water-soluble vitamin metabolic processGO:0067677.6MTR, MTHFR, TCN1, TCN2, GIF
5vitamin metabolic processGO:0067667.6GIF, TCN2, TCN1, MTHFR, MTR
6small molecule metabolic processGO:0442817.5MTR, MTHFR, TCN1, TCN2, GIF

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:0314198.4MTR, TCN1, TCN2, GIF

Products for genes affiliated with Vitamin B12 Deficiency

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Sources for Vitamin B12 Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet