MCID: VTM002
MIFTS: 48

Vitamin B12 Deficiency

Categories: Blood diseases, Mental diseases, Metabolic diseases, Smell/Taste diseases

Aliases & Classifications for Vitamin B12 Deficiency

MalaCards integrated aliases for Vitamin B12 Deficiency:

Name: Vitamin B12 Deficiency 12 73 54 15 17
Cobalamin Deficiency 12 29 6
Vitamin B 12 Deficiency 70
Hypocobalaminemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050731
UMLS 70 C0042847

Summaries for Vitamin B12 Deficiency

Disease Ontology : 12 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 diphyllobothriasis and congenital intrinsic factor deficiency. An important gene associated with Vitamin B12 Deficiency is AMN (Amnion Associated Transmembrane Protein), and among its related pathways/superpathways are Metabolism and HIV Life Cycle. The drugs Methylcobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, liver and bone, and related phenotypes are homeostasis/metabolism and cardiovascular system

Wikipedia : 73 Vitamin B12 deficiency, also known as cobalamin deficiency, is the medical condition of low blood and... more...

Related Diseases for Vitamin B12 Deficiency

Diseases related to Vitamin B12 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 523)
# Related Disease Score Top Affiliating Genes
1 diphyllobothriasis 32.4 CBLIF AMN
2 congenital intrinsic factor deficiency 32.3 TCN2 CUBN CBLIF AMN
3 blind loop syndrome 31.9 CBLIF ATP4A ATP12A
4 transcobalamin ii deficiency 31.8 TCN2 TCN1 LMBRD1 CBLIF
5 pernicious anemia 31.8 TCN2 TCN1 MTR GAST CBLIF ATP4A
6 macrocytic anemia 31.3 TCN2 GAST AMN
7 homocysteinemia 30.7 PON1 MTRR MTR MTHFR MMACHC
8 glossitis 30.6 TCN2 LMBRD1 ATP4A ATP12A
9 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 30.6 MTR MTHFR
10 phenylketonuria 30.6 MTRR MTR MTHFR
11 alcohol use disorder 30.4 TF MTHFR GPT
12 peptic ulcer disease 30.4 GAST ATP4A ATP12A
13 nutritional deficiency disease 30.4 TF MTHFR GAST EPO
14 thalassemia minor 30.3 PON1 EPO
15 zollinger-ellison syndrome 30.2 GAST ATP4A ATP12A
16 lymphocytic gastritis 30.2 ATP4A ATP12A
17 deficiency anemia 30.1 TF TCN2 PON1 MTR LMBRD1 GPT
18 esophageal candidiasis 30.1 ATP4A ATP12A
19 vascular disease 30.1 PON1 MTRR MTR MTHFR EPO
20 peripheral vascular disease 30.0 MTHFR GAST EPO
21 beta-thalassemia 30.0 TF PON1 MTHFR GPT EPO
22 celiac disease 1 30.0 GPT GAST ATP4A ATP12A
23 microinvasive gastric cancer 29.9 GAST ATP4A ATP12A
24 exanthem 29.9 GPT ATP4A ATP12A
25 duodenitis 29.8 GAST ATP4A ATP12A
26 kidney disease 29.8 TF PON1 MTHFR EPO CUBN
27 lipoprotein quantitative trait locus 29.7 PON1 MTRR MTR MTHFR GPT
28 megaloblastic anemia 29.7 TCN2 TCN1 MTRR MTR MTHFR MMUT
29 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 29.6 MMUT MMACHC
30 tropical sprue 29.4 TCN1 GAST CBLIF ATP4A ATP12A AMN
31 disorders of intracellular cobalamin metabolism 29.4 MTRR MTR MMACHC LMBRD1
32 methylmalonic aciduria and homocystinuria, cblc type 29.4 MTR MMUT MMACHC
33 barrett esophagus 29.4 GAST ATP4A ATP12A
34 homocystinuria 29.2 TCN2 MTRR MTR MTHFR MMUT MMACHC
35 organic acidemia 29.2 MTR MMUT MMACHC LMBRD1
36 propionic acidemia 29.1 MMUT MMACHC LMBRD1 ACADVL
37 neural tube defects 29.0 TCN2 TCN1 MTRR MTR MTHFR MMUT
38 methylmalonic acidemia 28.4 TCN2 TCN1 MTRR MTR MTHFR MMUT
39 imerslund-grasbeck syndrome 1 11.3
40 imerslund-grasbeck syndrome 2 11.3
41 atrophic gastritis 11.3
42 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.2
43 bothriocephalosis 11.2
44 neuropathy 10.8
45 constitutional megaloblastic anemia due to vitamin b12 metabolism disorder 10.8
46 peripheral nervous system disease 10.7
47 gastritis 10.7
48 pancytopenia 10.7
49 iron metabolism disease 10.7
50 dowling-degos disease 1 10.7

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



Diseases related to Vitamin B12 Deficiency

Symptoms & Phenotypes for Vitamin B12 Deficiency

MGI Mouse Phenotypes related to Vitamin B12 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 ACADVL ATP12A ATP4A CBLIF CD320 CUBN
2 cardiovascular system MP:0005385 9.85 ACADVL AMN CD320 CUBN EPO LMBRD1
3 mortality/aging MP:0010768 9.44 ACADVL AMN ATP4A CBLIF CUBN EPO

Drugs & Therapeutics for Vitamin B12 Deficiency

Drugs for Vitamin B12 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
2
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 15589840
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
4
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
5
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
6 Trace Elements Phase 2, Phase 3
7 Vitamin B9 Phase 2, Phase 3
8 Nutrients Phase 2, Phase 3
9 Vitamin B Complex Phase 2, Phase 3
10 Folate Phase 2, Phase 3
11 Vitamin B12 Phase 2, Phase 3
12 Vitamin B 12 Phase 2, Phase 3
13 Vitamins Phase 2, Phase 3
14 Micronutrients Phase 2, Phase 3
15
Metformin Approved 657-24-9 14219 4091
16
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
17
Neostigmine Approved, Vet_approved 59-99-4 4456
18
Ethanol Approved 64-17-5 702
19
Parathyroid hormone Approved, Investigational 9002-64-6
20
Quinidine Approved, Investigational 56-54-2 441074
21
Memantine Approved, Investigational 19982-08-2 4054
22
Acetylcysteine Approved, Investigational 616-91-1 12035
23
Dextromethorphan Approved 125-71-3 5360696 5362449
24
tannic acid Approved 1401-55-4
25
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
26
Levoleucovorin Approved, Investigational 68538-85-2 149436
27
Iron Approved 7439-89-6 23925 29936
28
Iodine Approved, Investigational 7553-56-2 807
29
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
30
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
31
Cadexomer iodine Experimental 94820-09-4
32 Proton Pump Inhibitors
33 Autoantibodies
34 Pharmaceutical Solutions
35
Glycopyrrolate 596-51-0 3494
36 Hypoglycemic Agents
37 Quinidine gluconate
38 Calciferol
39 Cholinesterase Inhibitors
40 N-monoacetylcystine
41 Retinol palmitate
42 retinol
43 Epoetin alfa 113427-24-0
44 Calcium, Dietary
45 Hematinics
46
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 How Many Patients Are in Need of Vitamin B12 Injections? Unknown status NCT00326833 Phase 4 vitamin B12
2 Vitamin Deficiencies and Suppletion in Morbid Obesity Completed NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
3 The Role of Methycobalamin in Early Dementia Patients With Vitamin B12 Deficiency and Hyperhomocysteinaemia. Completed NCT00165711 Phase 4 Mecobalamin
4 Acceptance and Biomarker Response With Oral vs. Intramuscular Supplementation of Vitamin B12 in Primary Care Completed NCT01832129 Phase 4 Oral administration of vitamin B12;i.m. injection of vitamin B12
5 Supplementation of Vitamin B12 in Pregnancy and Postpartum on Growth and Cognitive Functioning in Early Childhood: A Randomized, Placebo Controlled Trial Active, not recruiting NCT03071666 Phase 2, Phase 3
6 Effect of Oral Vitamin B12 Administration for Vitamin B12 Deficiency After Total Gastrectomy Completed NCT00699478 Phase 2 mecobalamin
7 Can Recombinant Human Intrinsic Factor Be Used for Evaluation of the Vitamin B12 Absorption? Completed NCT00279552 Phase 2 Recombinant human intrinsic factor
8 Metformin Use and Vitamin B12 Deficiency Completed NCT01136512
9 Relative Bioavailability of Folic Acid and L-5-Methlytetrahydrofolate Completed NCT01584050
10 Long-term Use of Proton Pump Inhibitors May Cause Vitamin B12 Deficiency in the Institutionalized Elderly Completed NCT00843453 treatment (cyanocobalamin nasal spray)
11 To Critically Investigate and Evaluate Supplementary Vitamin B12 Effects on Elevated Homocysteine Levels of Vegetarians, Who May Have a Resultant Susceptibility to Hyperhomocysteinemia Related Diseases. Completed NCT01661309
12 Assessment of Functional Vitamin B12 Deficiency in Mexican Women Completed NCT00826657
13 The Association Between Religious Origin and Age, and Vitamin B12 and Folic Acid Plasma Levels in Non Jewish Population in Western Galilee Completed NCT01297361
14 Holotranscobalamin Remains Unchanged During Pregnancy. Longitudinal Changes of Cobalamins and Its Binding Proteins During Pregnancy and Postpartum Completed NCT00467623
15 Presence of Autoantibodies to Gastric Parietal Cells and Subsequent Vitamin B12 Deficiency in Rheumatoid Arthritis Patients Completed NCT01876329
16 Novel Skin Preparation Approaches for Transdermal Delivery by Iontophoresis of a Low Molecular Weight, Positively Charged Compound (Vitamin B12) to the Systemic Circulation Completed NCT04027959
17 Impact of Vitamin B12 Replacement on Epogen Dosing and Improvement of Quality of Life in Hemodialysis Patients Completed NCT01876732 Vitamin B12
18 Comparison of Gut Microbial Composition in Breastfed Infants With and Without Vitamin B12 Deficiency Completed NCT03365583
19 Diagnostics and Therapy of a Cobalamin Deficiency Completed NCT04243707
20 Oral Versus Intramuscular Cobalamin to Treat Cobalamin Deficiency: Noninferiority Randomised Controlled Trial Pragmatic and Multi-center in the Primary Healthcare Setting (OB12 Project) Completed NCT01476007 oral Cobalamin (vitamin B12);intramuscular Cobalamin (vitamin B12)
21 Effect of Toothpaste Fortified With Cyanocobalamin on Vitamin B12 Status: A 3 Month Placebo Controlled Randomized Study Completed NCT02679833
22 Cobalamin Status in Young Children With Gastrointestinal Symptoms or Feeding Problems Completed NCT00710359
23 Cobalamin Status in Young Children With Developmental Delay and Regression Completed NCT00710138
24 A 60-DAY, Open-label, Randomized Study to Evaluate the Efficacy and Safety of Eligen® B12 OR Intramuscularly Administered B12 in Subjects With Low Serum Cobalamin With a 30 Day Extension to 90 Days of Dosing Completed NCT01312831
25 Cobalamin Absorption From Fortified Food in Older Adults With and Without Proton Pump Inhibitor Induced Achlorhydria Completed NCT01399164
26 Vitamin B12 Treatment in Singers - Assessment of Effects Exploratory Pilot Study Completed NCT03437824 Early Phase 1 Cyanocobalamin;Placebo
27 Cobalamin Supplementation During Infancy; Effect on B-vitamin Status, Growth and Psychomotor Development Completed NCT00479479 Hydroxycobalamin (Vitamin B12 Depot, Nycomed Pharma)
28 Cracking the Egg Potential: Improving Young Child Nutrition in Ecuador Completed NCT02446873
29 Homocysteine After Laparoscopic Roux-enY Gastric Bypass: a Comprehensive Evalutation in 708 Patients Completed NCT03489538
30 Pilot Study for the Evaluation of the Effectiveness of Natural Versus Synthetic Vitamin B Complexes in Humans. Completed NCT03444155
31 Supplementation of Critical Nutrients in a Plant-based Diet as Assessed by Experts in Nutrition - a Cross-sectional Survey Completed NCT03542591
32 Effect of Vitamin B12 Supplementation on Glycaemic Control in Uncontrolled Hyperhomocysteinemic Type 2 Diabetic Patients Completed NCT02540642
33 The Vitamin B Status in Type 2 Diabetes (VITA) Study Completed NCT03447275
34 Retrospective Analysis of the Comparative Effectiveness of MCI and Dementia Treatment Protocols in a Community-based Specialty Dementia Practice Completed NCT02860338
35 Cross-sectional Study of the Association of Muscle Strength, Tinetti Test (POMA) Scores and Other Predictor Variables With Serum Vitamin Levels (Vitamin B12, Vitamin D and Folate) in Elderly Patients With Type 2 Diabetes Mellitus Completed NCT03376490
36 Comparison of Two Pharmacist-led Population Management Approaches to Increase Monitoring of Vitamin B12 and Serum Creatinine Levels for Patients on Metformin Completed NCT02076347
37 Periconceptional Surveillance for Prevention of Anemia and Birth Defects in India Completed NCT04048330
38 NUTRIHEALTH - Adults Nutrition as a Protective or Health-risk Factor Completed NCT03284840
39 A Comparison of Two Different Doses of Maternal B12 Supplementation in Improving Infant B12 Deficiency and Neurodevelopment Recruiting NCT04083560 Vit B12
40 Nutrition, Vision, and Cognition in Sport Study: Beef Recruiting NCT04427852
41 A Randomised Controlled Trial to Compare Two Different Doses of Maternal B12 Supplementation in Improving Infant B12 Deficiency and Neurodevelopment Recruiting NCT03783104
42 A Pilot Study to Evaluate the Nutritional Status of Women and Children in Northern Ghana, and Knowledge, Attitudes and Practices Related to Bouillon Cube Use Recruiting NCT04632771
43 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
44 Effect on Pregnancy Outcomes, Infant Growth and Development of an Egg Intervention During Pregnancy in Indonesia Recruiting NCT04694235
45 Preoperative Anaemia Prevalence in Surgical Patients- A Prospective, International, Multicentre Observational Study (ALICE) Recruiting NCT03978260
46 Optimization of Transfusion Use and Interest of the Correction of Iron Deficiencies in Cardiac Surgery Under Extracorporeal Circulation (ECC) Recruiting NCT04040023 Iron and vitamin Deficiencies Correction Program
47 A Randomized Trial of Quadruple Fortified Salt for Anemia and Birth Defects Prevention in Southern India Not yet recruiting NCT03853304

Search NIH Clinical Center for Vitamin B12 Deficiency

Genetic Tests for Vitamin B12 Deficiency

Genetic tests related to Vitamin B12 Deficiency:

# Genetic test Affiliating Genes
1 Cobalamin Deficiency 29

Anatomical Context for Vitamin B12 Deficiency

MalaCards organs/tissues related to Vitamin B12 Deficiency:

40
Spinal Cord, Liver, Bone, Brain, Heart, Bone Marrow, Tongue

Publications for Vitamin B12 Deficiency

Articles related to Vitamin B12 Deficiency:

(show top 50) (show all 3489)
# Title Authors PMID Year
1
MTHFR polymorphisms involved in vitamin B12 deficiency associated with atrophic gastritis. 54 61
19521764 2009
2
Hemolysis and hyperhomocysteinemia caused by cobalamin deficiency: three case reports and review of the literature. 61 54
19094231 2008
3
Severe atherosclerosis in rheumatoid arthritis and hyperhomocysteinemia: is there a link? 61 54
18457979 2008
4
Hyperhomocysteinemia, deep vein thrombosis and vitamin B12 deficiency in a metformin-treated diabetic patient. 54 61
17908667 2007
5
High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia. 54 61
17449548 2007
6
Prevalence and evaluation of B12 deficiency in patients with autoimmune thyroid disease. 54 61
16969140 2006
7
Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. 54 61
16464760 2005
8
Effects of alcohol on folate metabolism: implications for carcinogenesis. 61 54
16054985 2005
9
Cobalamin pseudodeficiency due to a transcobalamin I deficiency. 54 61
12356110 2002
10
Methionine synthase deficiency without megaloblastic anaemia. 54 61
9453374 1997
11
Identification of two mutant alleles of transcobalamin II in an affected family. 54 61
7849710 1994
12
Dementia patients with low serum cobalamin concentration: relationship to atrophic gastritis. 54 61
1627675 1992
13
Preliminary analysis of immunoregulatory mechanism of hyperhomocysteinemia-induced brain injury in Wistar-Kyoto rats. 61
33790992 2021
14
Ileocecal valve syndrome and vitamin b12 deficiency after surgery: a multicentric prospective study. 61
32648110 2021
15
Review of Vitamin B12 deficiency in pregnancy: a diagnosis not to miss as veganism and vegetarianism become more prevalent. 61
33341967 2021
16
A prospective investigation of circulating metabolome identifies potential biomarkers for gastric cancer risk. 61
33795214 2021
17
EXPRESS: Personalising laboratory medicine in the âreal worldâ: assessing clinical utility, by clinical indication, of serum total B12 and Active-B12® (holotranscobalamin) in the diagnosis of vitamin B12 deficiency. 61
33715445 2021
18
Glucocorticoid Receptor Activation Restores Learning Memory by Modulating Hippocampal Plasticity in a Mouse Model of Brain Vitamin B12 Deficiency. 61
33078371 2021
19
Evaluation of macular, retinal nerve fiber layer and choroidal thickness by optical coherence tomography in children and adolescents with vitamin B12 deficiency. 61
33768408 2021
20
Vitamin B12 deficiency presenting as acute febrile encephalopathy and retinopathy. 61
32217747 2021
21
Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment. 61
33657632 2021
22
Vitamin B12 Deficiency Observed in Children With First Afebrile Seizures. 61
33717768 2021
23
Vitamin D3 and B12 supplementation in pregnancy. 61
33662489 2021
24
Association of Maternal Vitamin B12 Status With Infant Findings and Neurodevelopment in Vitamin B12-Deficient Breast-fed Babies. 61
33661170 2021
25
[Vitamin B12 in practice: When to test ? How to test ? And who should be treated?] 61
33760421 2021
26
Effects of Vitamin B12 Supplementation on Cognitive Function, Depressive Symptoms, and Fatigue: A Systematic Review, Meta-Analysis, and Meta-Regression. 61
33809274 2021
27
Role of vitamin B12 deficiency in ischemic stroke risk and outcome. 61
32985467 2021
28
The doctor who stared at schistocytes: an intriguing case of suspected thrombotic microangiopathic anemia. 61
31667698 2021
29
Pyoderma gangrenosum and cobalamin deficiency in systemic lupus erythematosus: a rare but non fortuitous association. 61
33653418 2021
30
Cold Adaptation in Antarctic Notothenioids: Comparative Transcriptomics Reveals Novel Insights in the Peculiar Role of Gills and Highlights Signatures of Cobalamin Deficiency. 61
33670421 2021
31
Age dependency of plasma vitamin B12 status markers in Dutch children and adolescents. 61
33574561 2021
32
Nitrous oxide induced neurotoxicity: a case report and literature review. 61
33590530 2021
33
Hearing status in vitamin B12-deficient children. 61
33600619 2021
34
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated. 61
33581104 2021
35
Neuro-image: nitrous oxide-induced myelopathy due to vitamin B12 deficiency. 61
33598882 2021
36
Vitamin B12 deficiency among asymptomatic healthy infants: its impact on the immune system. 61
26763692 2021
37
A patient and public involvement workshop using visual art and priority setting to provide patients with a voice to describe quality and safety concerns: Vitamin B12 deficiency and pernicious anaemia. 61
33180344 2021
38
[Helicobacter pylori: When to look for an infection and treat it in adults?] 61
33648778 2021
39
Potential contributors to low dose methotrexate toxicity in a patient with rheumatoid arthritis and pernicious anemia: case report. 61
33573706 2021
40
Frequency of anemia and micronutrient deficiency among children with cleft lip and palate: a single-center cross-sectional study from Uttarakhand, India. 61
33714250 2021
41
Vitamin B12 deficiency in patients with type 2 diabetes mellitus using metformin and the associated factors in Saudi Arabia. 61
33563734 2021
42
Which one, gastric parietal cell antibody positivity or hyperhomocysteinemia, is a better biomarker to predict oral mucosal disease patients with vitamin B12 deficiency? 61
32855035 2021
43
Case report of an acute myocardial infarction after high-dose recreational nitrous oxide use: a consequence of hyperhomocysteinaemia? 61
33598625 2021
44
Subacute combined degeneration of the cervical and dorsal spinal cord in a 40-year-old male patient: A case report. 61
33144904 2021
45
Common Pitfalls in the Management of Patients with Micronutrient Deficiency: Keep in Mind the Stomach. 61
33450823 2021
46
Myeloradiculoneuropathy due to vitamin B12 deficiency: an unusual clinical and radiological presentation. 61
33495192 2021
47
Profiling immuno-metabolic mediators of vitamin B12 deficiency among metformin-treated type 2 diabetic patients in Ghana. 61
33784336 2021
48
Response of Human Glioblastoma Cells to Vitamin B12 Deficiency: A Study Using the Non-Toxic Cobalamin Antagonist. 61
33478021 2021
49
COVID-19's toll on the elderly and those with diabetes mellitus - Is vitamin B12 deficiency an accomplice? 61
33257090 2021
50
Evaluation of Auditory Brainstem Response (ABR) in Vitamin B12 Deficiency. 61
33496416 2021

Variations for Vitamin B12 Deficiency

ClinVar genetic disease variations for Vitamin B12 Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMN NM_030943.3(AMN):c.318_319CT[3] (p.Asp108fs) Microsatellite Pathogenic 523538 rs1555381324 GRCh37: 14:103395116-103395117
GRCh38: 14:102928779-102928780
2 AMN NM_030943.3(AMN):c.149T>C (p.Phe50Ser) SNV Uncertain significance 523537 rs772475317 GRCh37: 14:103390153-103390153
GRCh38: 14:102923816-102923816

Expression for Vitamin B12 Deficiency

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

Pathways for Vitamin B12 Deficiency

Pathways related to Vitamin B12 Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 TCN2 TCN1 PON1 MTRR MTR MTHFR
2
Show member pathways
13.54 TCN2 MTRR MTR MMUT MMACHC CUBN
3
Show member pathways
12.19 TCN2 TCN1 MTRR MTR MTHFR MMUT
4
Show member pathways
12.14 MTR MTHFR MMUT GPT
5
Show member pathways
12.01 TCN2 TCN1 MTRR MTR MTHFR MMUT
6
Show member pathways
11.89 TCN2 MTRR MTR MTHFR
7
Show member pathways
11.78 TCN2 MTRR MTR MMUT MMACHC CUBN
8 11.1 TCN2 MMACHC LMBRD1 CUBN CBLIF
9 11.02 TCN2 TCN1 MTRR MTR MMUT MMACHC
10
Show member pathways
10.43 CUBN CBLIF AMN
11 10.34 GAST CBLIF
12 10.18 GAST ATP4A
13
Show member pathways
10.06 MTRR MTR

GO Terms for Vitamin B12 Deficiency

Cellular components related to Vitamin B12 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 9.67 TF CUBN CD320 AMN
2 lysosomal lumen GO:0043202 9.5 TCN2 CUBN CBLIF
3 clathrin-coated pit GO:0005905 9.33 TF CUBN AMN
4 extracellular space GO:0005615 9.32 TF TCN2 TCN1 PON1 GPT GAST
5 extrinsic component of external side of plasma membrane GO:0031232 9.26 TF CUBN
6 endocytic vesicle GO:0030139 9.13 TF CUBN AMN

Biological processes related to Vitamin B12 Deficiency according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.88 TF TCN2 TCN1 CBLIF ATP4A ATP12A
2 folic acid metabolic process GO:0046655 9.54 MTRR MTHFR
3 cellular amino acid biosynthetic process GO:0008652 9.54 MTRR MTR GPT
4 sodium ion export across plasma membrane GO:0036376 9.52 ATP4A ATP12A
5 cellular potassium ion homeostasis GO:0030007 9.51 ATP4A ATP12A
6 methionine biosynthetic process GO:0009086 9.5 MTRR MTR MTHFR
7 cobalamin transport GO:0015889 9.5 TCN2 TCN1 LMBRD1 CUBN CD320 CBLIF
8 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.49 ATP4A ATP12A
9 high-density lipoprotein particle clearance GO:0034384 9.48 CUBN AMN
10 methionine metabolic process GO:0006555 9.46 MTRR MTHFR
11 sulfur amino acid metabolic process GO:0000096 9.43 MTRR MTR
12 homocysteine metabolic process GO:0050667 9.43 MTRR MTHFR MMUT
13 cobalamin metabolic process GO:0009235 9.36 TCN2 TCN1 MTRR MTR MMUT MMACHC
14 cobalt ion transport GO:0006824 9.33 TCN2 TCN1 CBLIF

Molecular functions related to Vitamin B12 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.58 MTRR MTHFR ACADVL
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.43 ATP4A ATP12A
3 FAD binding GO:0071949 9.43 MTRR MTHFR MMACHC
4 modified amino acid binding GO:0072341 9.37 MTHFR MMUT
5 potassium-transporting ATPase activity GO:0008556 9.32 ATP4A ATP12A
6 cobalamin binding GO:0031419 9.28 TCN2 TCN1 MTR MMUT MMACHC LMBRD1
7 cobalamin-transporting ATPase activity GO:0015420 9.16 LMBRD1 CD320
8 potassium:proton exchanging ATPase activity GO:0008900 8.96 ATP4A ATP12A

Sources for Vitamin B12 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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