MCID: VTM002
MIFTS: 48

Vitamin B12 Deficiency malady

Metabolic diseases category
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Summaries for Vitamin B12 Deficiency

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

MalaCards based summary: Vitamin B12 Deficiency, also known as cobalamin deficiency, is related to transcobalamin ii deficiency and megaloblastic anemia. 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, bone and breast.

Aliases & Classifications for Vitamin B12 Deficiency

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 22GTR, 62UMLS
See all sources

Vitamin B12 Deficiency, Aliases & Descriptions:

Name: Vitamin B12 Deficiency 8 10 44
Cobalamin Deficiency 8 22
 
Vitamin B 12 Deficiency 62
Hypocobalaminemia 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


External Ids:

Disease Ontology8 DOID:0050731

Related Diseases for Vitamin B12 Deficiency

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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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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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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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MalaCards organs/tissues related to Vitamin B12 Deficiency:

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

Animal Models for Vitamin B12 Deficiency or affiliated genes

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Publications for Vitamin B12 Deficiency

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Articles related to Vitamin B12 Deficiency:

(show top 50)    (show all 523)
idTitleAuthorsYear
1
Vitamin B12 deficiency in Jordan: a population-based study. (24943588)
2014
2
Vitamin B12 deficiency causing night sweats. (25281396)
2014
3
Undetected vitamin B12 deficiency due to false normal assay results. (23356970)
2013
4
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. (23900243)
2013
5
Delirium as a result of vitamin B12 deficiency in a vegetarian female patient. (23859997)
2013
6
Cranial magnetic resonance imaging findings of nutritional vitamin B12 deficiency in 15 hypotonic infants. (21903432)
2012
7
Psychotic disorder, hypertension and seizures associated with vitamin B12 deficiency: a case report. (22027500)
2012
8
Involuntary movements after correction of vitamin B12 deficiency: a video-case report. (22591802)
2012
9
Homocystinuria masquerading as vitamin B12 deficiency. (22864044)
2012
10
Vitamin B12 deficiency causing hyperhomocysteinaemia and cerebral venous sinus thrombosis. (22616971)
2012
11
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
12
Utility of measuring vitamin B12 and its active fraction, holotranscobalamin, in neurological vitamin B12 deficiency syndromes. (20890610)
2011
13
Functional vitamin B12 deficiency in alcoholics: an intriguing finding in a retrospective study of megaloblastic anemic patients. (20206879)
2010
14
Charles Bonnet syndrome and vitamin B12 deficiency: a case report. (20633753)
2010
15
"Anchor"-shaped bright posterior column in a patient with vitamin B12 deficiency myelopathy. (19417166)
2009
16
Prevalence of iron, folate, and vitamin B12 deficiency anemia after laparoscopic Roux-en-Y gastric bypass. (18214631)
2008
17
Serum vitamin B12 deficiency and hyperhomocystinemia: a reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia. (18678379)
2008
18
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
19
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
20
Causes and early diagnosis of vitamin B12 deficiency. (19623286)
2008
21
Neurologic disease and vitamin B12 deficiency. (17920997)
2007
22
High frequency of maternal vitamin B12 deficiency as an important cause of infantile vitamin B12 deficiency in Sanliurfa province of Turkey. (16601915)
2006
23
Patient and family fact sheet. Vitamin B12 deficiency and the nervous system. (16688019)
2006
24
Primary SjAPgren's syndrome and vitamin B12 deficiency: preliminary results in 80 patients. (16750953)
2006
25
Clinical and laboratory features and response to treatment in patients presenting with vitamin B12 deficiency-related neurological syndromes. (15805657)
2005
26
Prevalence of vitamin B12 deficiency in patients with plasma cell dyscrasias. (15937914)
2005
27
Use of metformin is a cause of vitamin B12 deficiency. (14765765)
2004
28
Predictors of vitamin B12 deficiency: age and Helicobacter pylori load of antral mucosa. (14593537)
2003
29
Vitamin B12 deficiency. (12643357)
2003
30
Cobalamin (vitamin B12)-deficiency-induced changes in the proteome of rat cerebrospinal fluid. (12769818)
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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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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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 degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.0MTR, MTHFR
3
Show member pathways
thioredoxin pathway37
9.0MTR, MTHFR
4
Show member pathways
Vitamin B12 Metabolism37
8.7GIF, TCN1, MTHFR
5
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism60
8.5TCN2, MTHFR, MTR
67.5MTR, MTHFR, TCN1, TCN2, GIF
7
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
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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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Vitamin B12 Deficiency according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1cobinamide44 2410.7MTR, TCN1
25-Methyltetrahydrofolic acid249.4MTHFR, MTR
3methyl-group449.4MTHFR, MTR
45,10-methenyltetrahydrofolate449.4MTR, MTHFR
5b vitamins449.4MTHFR, MTR
610-formyltetrahydrofolate449.4MTHFR, MTR
75-methyltetrahydrofolate44 1110.3MTR, MTHFR
8benazepril44 50 1111.3MTR, MTHFR
9tetrahydrofolate449.3MTHFR, MTR
10betaine44 2410.3MTR, MTHFR
11Tetrahydrofolic acid24 1110.3MTR, MTHFR
12corrinoid449.3TCN2, TCN1, MTR
13dihydrofolate449.3MTR, MTHFR
14pyridoxal 5-phosphate449.3MTR, MTHFR
15s-adenosylhomocysteine44 2410.2MTHFR, MTR
16purine44 2410.2MTR, MTHFR
17thymidylate449.2MTR, MTHFR
18s-adenosylmethionine44 24 1111.1MTHFR, MTR
19carbon449.1MTR, MTHFR
20cyclophosphamide44 50 1111.0MTR, MTHFR
21methotrexate50 44 1111.0MTR, MTHFR
22FAD248.9MTHFR, MTR
23adenosylcobalamin44 249.9TCN2, MTHFR, MTR
24cystathionine448.9TCN2, MTHFR, MTR
25vitamin b6448.9TCN2, MTHFR, MTR
26folate448.8MTR, MTHFR, TCN2
27creatinine448.8TCN2, MTHFR, MTR
28cobalt44 249.7MTR, TCN1, TCN2, GIF
29valine448.7MTR, MTHFR
30methylcobalamin44 249.5TCN2, TCN1, MTHFR, MTR
31cyanocobalamin50 24 1110.5TCN2, TCN1, MTHFR, MTR
32hydroxocobalamin44 119.5TCN2, TCN1, MTHFR, MTR
33methylmalonic acid44 249.5MTR, MTHFR, TCN1, TCN2
34homocysteine44 249.4MTR, MTHFR, TCN1, TCN2
35methionine448.4MTR, MTHFR, TCN1, TCN2
36cobalamin44 248.9MTR, MTHFR, TCN1, TCN2, GIF
37vitamin b12447.9GIF, TCN2, TCN1, MTHFR, MTR

GO Terms for genes affiliated with Vitamin B12 Deficiency

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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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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet