MCID: VTM002
MIFTS: 48

Vitamin B12 Deficiency

Categories: Blood diseases, Metabolic diseases

Aliases & Classifications for Vitamin B12 Deficiency

MalaCards integrated aliases for Vitamin B12 Deficiency:

Name: Vitamin B12 Deficiency 12 74 54 15 17
Cobalamin Deficiency 12 29 6
Vitamin B 12 Deficiency 71
Hypocobalaminemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050731
UMLS 71 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 imerslund-grasbeck syndrome 1 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 Omeprazole and Iron have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, testes and bone, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

Wikipedia : 74 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 490)
# Related Disease Score Top Affiliating Genes
1 imerslund-grasbeck syndrome 1 33.4 CUBN AMN
2 congenital intrinsic factor deficiency 32.9 TCN2 CUBN CBLIF CBL AMN
3 transcobalamin ii deficiency 32.7 TCN2 TCN1 LMBRD1 CBLIF
4 blind loop syndrome 32.4 CBLIF ATP4A ATP12A
5 pernicious anemia 32.3 TCN2 TCN1 MTR MMD GAST CBLIF
6 homocysteinemia 31.3 PON1 MTR MTHFR MMACHC
7 megaloblastic anemia 31.2 TCN2 TCN1 MTR MTHFR LMBRD1 CUBN
8 macrocytic anemia 31.1 TCN2 MTR GAST CBLIF AMN
9 phenylketonuria 30.9 MTR MTHFR GPX3
10 deficiency anemia 30.8 PON1 EPO CBLIF CBL ATP4A ATP12A
11 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 30.7 MTR MTHFR
12 choline deficiency disease 30.5 MTR MTHFR GPT
13 peptic ulcer disease 30.4 GAST ATP4A ATP12A
14 glossitis 30.4 TCN2 LMBRD1 CBLIF ATP4A ATP12A
15 zollinger-ellison syndrome 30.3 GAST ATP4A ATP12A
16 lymphocytic gastritis 30.3 ATP4A ATP12A
17 autoimmune gastritis 30.2 GAST CBLIF ATP4A ATP12A
18 esophageal candidiasis 30.1 ATP4A ATP12A
19 microinvasive gastric cancer 30.1 GAST ATP4A ATP12A
20 celiac disease 1 30.1 GAST CBLIF ATP4A ATP12A
21 peripheral vascular disease 30.1 MTHFR GAST EPO
22 exanthem 30.1 GPT ATP4A ATP12A
23 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 30.0 MMUT MMACHC
24 disorders of intracellular cobalamin metabolism 29.9 MTR MMACHC LMBRD1
25 nutritional deficiency disease 29.8 MTHFR GAST EPO CBLIF ATP4A ATP12A
26 gastroesophageal reflux 29.6 GAST ATP4A ATP12A
27 neural tube defects 29.6 TCN2 TCN1 MTR MTHFR MMUT CUBN
28 tropical sprue 29.5 TCN1 GAST CBLIF ATP4A ATP12A AMN
29 homocystinuria 29.3 TCN2 MTR MTHFR MMUT MMD MMACHC
30 propionic acidemia 29.3 MMUT MMD MMACHC LMBRD1
31 methylmalonic acidemia 28.6 TCN2 MTR MTHFR MMUT MMD MMACHC
32 atrophic gastritis 11.7
33 autoimmune atrophic gastritis 11.7
34 diphyllobothriasis 11.7
35 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.3
36 imerslund-grasbeck syndrome 2 11.3
37 bothriocephalosis 11.3
38 constitutional megaloblastic anemia due to vitamin b12 metabolism disorder 11.2
39 neuropathy 10.8
40 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.7
41 iron metabolism disease 10.7
42 peripheral nervous system disease 10.7
43 gastritis 10.7
44 pancytopenia 10.7
45 dowling-degos disease 1 10.6
46 folic acid deficiency anemia 10.5 EPO CBLIF
47 ataxia and polyneuropathy, adult-onset 10.5
48 hypotonia 10.5
49 pyridoxine deficiency anemia 10.5 GPT CBLIF
50 gastrointestinal neuroendocrine benign tumor 10.5 GAST CBLIF

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



Diseases related to Vitamin B12 Deficiency

Symptoms & Phenotypes for Vitamin B12 Deficiency

GenomeRNAi Phenotypes related to Vitamin B12 Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.02 CBL EPO MMUT MTHFR MTR

MGI Mouse Phenotypes related to Vitamin B12 Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 ATP12A ATP4A CBL CBLIF CD320 CUBN
2 mortality/aging MP:0010768 9.44 AMN ATP4A CBL CBLIF CUBN EPO

Drugs & Therapeutics for Vitamin B12 Deficiency

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

(show top 50) (show all 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
2
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
3
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
4 Proton Pump Inhibitors Phase 4
5 Gastrointestinal Agents Phase 4
6 Antacids Phase 4
7 Anti-Ulcer Agents Phase 4
8 Retinol palmitate Phase 4
9 retinol Phase 4
10 Hypolipidemic Agents Phase 4
11 Cholestyramine Resin Phase 4
12 Lipid Regulating Agents Phase 4
13 Anticholesteremic Agents Phase 4
14 Antimetabolites Phase 4
15
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
16
Sodium citrate Approved, Investigational Phase 3 68-04-2
17
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
18
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
19
Tamoxifen Approved Phase 3 10540-29-1 2733526
20
Methylcobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
21
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 15589840 11953898
22
Levodopa Approved Phase 2, Phase 3 59-92-7 6047
23
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
24
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
25
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
27
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
28 Anti-Bacterial Agents Phase 3
29 Antibiotics, Antitubercular Phase 3
30 Immunologic Factors Phase 3
31 Hormone Antagonists Phase 3
32 Hormones Phase 3
33
Liposomal doxorubicin Phase 3 31703
34 Citrate Phase 3
35 Antineoplastic Agents, Hormonal Phase 3
36 Immunosuppressive Agents Phase 3
37 Estrogen Receptor Modulators Phase 3
38 Alkylating Agents Phase 3
39 Estrogen Antagonists Phase 3
40 Antirheumatic Agents Phase 3
41 Estrogens Phase 3
42 Estrogen Receptor Antagonists Phase 3
43 Vitamin B 6 Phase 3
44 Vaccines Phase 2, Phase 3
45 Vitamins Phase 2, Phase 3
46 Vitamin B Complex Phase 2, Phase 3
47 Vitamin B 12 Phase 2, Phase 3
48 Vitamin B12 Phase 2, Phase 3
49 Trace Elements Phase 2, Phase 3
50 Folate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 81)
# 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 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
3 The Role of Methycobalamin in Early Dementia Patients With Vitamin B12 Deficiency and Hyperhomocysteinaemia. Completed NCT00165711 Phase 4 Mecobalamin
4 Vitamin Deficiencies and Suppletion in Morbid Obesity Completed NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
5 Vitamin B12 Supplement to Prevent Cognitive Decline Completed NCT02457507 Phase 4
6 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
7 PRELIMINARY EVALUATION OF RETINAL EFFECTS OF PHARMACOLOLOGICAL LOWERING OF SERUM LEVES OF ADVANCED GLYCATION END-PRODUCTS (AGEs) IN TYPE 2 DIABETIC PATIENTS Completed NCT02249897 Phase 4 CHOLESTYRAMINE
8 A Clinical Trial to Evaluate the Benefit of Adding Octreotide (SMS 201-995 PA LAR) to Tamoxifen Alone or to Tamoxifen and Chemotherapy in Patients With Axillary Node-Negative, Estrogen-Receptor-Positive, Primary Invasive Breast Cancer Completed NCT00002967 Phase 3 cyclophosphamide;doxorubicin hydrochloride;octreotide pamoate;tamoxifen citrate
9 A Randomised Double Blind Study of the Effects of Homocysteine Lowering Therapy on Mortality and Cardiac Events in Patients Undergoing Coronary Angiography Completed NCT00354081 Phase 3 folic acid, vitamin B12 (cyanocobalamin), vitamin B6 (pyridoxine);folic acid, vitamin B12 (cyanocobalamin);vitamin B6 (pyridoxine);placebo
10 A Single-blinded, Placebo Controlled, Crossover Study of Pylopass Versus Placebo in Subjects Who Are Helicobacter Pylori Carriers and With Mild Indigestion Completed NCT02051348 Phase 2, Phase 3
11 CSP #453 - Homocysteinemia in Kidney and Endstage Renal Disease Study (HOST) Completed NCT00032435 Phase 3 PAL-40 Active;PAL-40 Placebo
12 Role of Vitamin B12 Supplementation During Pregnancy and Postpartum to Reduce Nutritional Anemia and Improve Immunity in Bangladeshi Women and Their Infants Completed NCT01795131 Phase 2, Phase 3
13 Supplementation of Vitamin B12 in Pregnancy and Postpartum on Growth and Cognitive Functioning in Early Childhood: A Randomized, Placebo Controlled Trial Recruiting NCT03071666 Phase 2, Phase 3
14 The Effect of Vitamin B12 Supplementation in Nepali Infants on Growth and Development Active, not recruiting NCT02272842 Phase 2, Phase 3
15 Assessment of Cobalamin Status and Responses to Supplementation in Patients With Parkinson's Disease : a Pilot Study Terminated NCT00208611 Phase 2, Phase 3
16 Effect of Oral Vitamin B12 Administration for Vitamin B12 Deficiency After Total Gastrectomy Completed NCT00699478 Phase 2 mecobalamin
17 Can Recombinant Human Intrinsic Factor Be Used for Evaluation of the Vitamin B12 Absorption? Completed NCT00279552 Phase 2 Recombinant human intrinsic factor
18 Continuous Sunitinib Treatment in Patients With Unresectable Hepatocellular Carcinoma A Multicenter Phase II Trial Completed NCT00514228 Phase 2 sunitinib malate
19 Influence of Disease Activity of Inflammatory Bowel Disease on Resting Energy Expenditure and Nutritional Status Unknown status NCT02275676
20 Comparison of Vitamin B12 Supplementation and SSRI to SSRI Monotherapy in Treating Depression With Low Normal B12: A Randomized Open Label trialComparison of Vitamin B12 Supplementation to SSRI Versus SSRI Antidepressant Treatment Alone Unknown status NCT00939718
21 Metformin Use and Vitamin B12 Deficiency Completed NCT01136512
22 Assessment of Functional Vitamin B12 Deficiency in Mexican Women Completed NCT00826657
23 Long-term Use of Proton Pump Inhibitors May Cause Vitamin B12 Deficiency in the Institutionalized Elderly Completed NCT00843453 treatment (cyanocobalamin nasal spray)
24 Cobalamin Status in Young Children With Gastrointestinal Symptoms or Feeding Problems Completed NCT00710359
25 Cobalamin Status in Young Children With Developmental Delay and Regression Completed NCT00710138
26 Vitamin B12 Treatment in Singers - Assessment of Effects Exploratory Pilot Study Completed NCT03437824 Early Phase 1 Cyanocobalamin;Placebo
27 Diagnostics and Therapy of a Cobalamin Deficiency Completed NCT04243707
28 Presence of Autoantibodies to Gastric Parietal Cells and Subsequent Vitamin B12 Deficiency in Rheumatoid Arthritis Patients Completed NCT01876329
29 Effect of Toothpaste Fortified With Cyanocobalamin on Vitamin B12 Status: A 3 Month Placebo Controlled Randomized Study Completed NCT02679833
30 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
31 Comparison of Two Pharmacist-led Population Management Approaches to Increase Monitoring of Vitamin B12 and Serum Creatinine Levels for Patients on Metformin Completed NCT02076347
32 The Association Between Religious Origin and Age, and Vitamin B12 and Folic Acid Plasma Levels in Non Jewish Population in Western Galilee Completed NCT01297361
33 Cobalamin Absorption From Fortified Food in Older Adults With and Without Proton Pump Inhibitor Induced Achlorhydria Completed NCT01399164
34 Comparison of Gut Microbial Composition in Breastfed Infants With and Without Vitamin B12 Deficiency Completed NCT03365583
35 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)
36 Impact of Vitamin B12 Replacement on Epogen Dosing and Improvement of Quality of Life in Hemodialysis Patients Completed NCT01876732 Vitamin B12
37 Holotranscobalamin Remains Unchanged During Pregnancy. Longitudinal Changes of Cobalamins and Its Binding Proteins During Pregnancy and Postpartum Completed NCT00467623
38 Cobalamin Supplementation During Infancy; Effect on B-vitamin Status, Growth and Psychomotor Development Completed NCT00479479 Hydroxycobalamin (Vitamin B12 Depot, Nycomed Pharma)
39 Helicobacter Pylori and it's Hematological Impact Completed NCT03629587
40 Relative Bioavailability of Folic Acid and L-5-Methlytetrahydrofolate Completed NCT01584050
41 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
42 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
43 The Effect of Oral Vitamin B12 Supplementation on Cognitive Performance in Elderly People: the Brain12 Study Completed NCT00111267
44 Adequacy of Serum Vitamin B12 Measurement in Type 2 Diabetic Patients Treated With Metformin in Comparison to Holotranscobalamin Measurement Completed NCT02111967
45 Supplementation of Critical Nutrients in a Plant-based Diet as Assessed by Experts in Nutrition - a Cross-sectional Survey Completed NCT03542591
46 The Bread Trial: a Demonstration Trial to Show Effects of Fortification of Food With Both Folic Acid and Vitamin B12 Completed NCT00353353
47 Effect of Apple Cider Vinegar and Metformin Combination vs Metformin Alone in Type 2 Diabetics:A Randomized Controlled Trial Completed NCT04120259 Metformin Oral Tablet
48 Efficacy of Sleeve Gastrectomy , MGB , SASI Bypass in Type 2 Diabetes Obese Patients , Comparative Retrospective Study Completed NCT03394157
49 The Vitamin B Status in Type 2 Diabetes (VITA) Study Completed NCT03447275
50 Homocysteine After Laparoscopic Roux-enY Gastric Bypass: a Comprehensive Evalutation in 708 Patients Completed NCT03489538

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, Testes, Bone, Brain, Liver, Heart, Tongue

Publications for Vitamin B12 Deficiency

Articles related to Vitamin B12 Deficiency:

(show top 50) (show all 3357)
# Title Authors PMID Year
1
MTHFR polymorphisms involved in vitamin B12 deficiency associated with atrophic gastritis. 61 54
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? 54 61
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. 61 54
17449548 2007
6
Prevalence and evaluation of B12 deficiency in patients with autoimmune thyroid disease. 61 54
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. 54 61
16054985 2005
9
Cobalamin pseudodeficiency due to a transcobalamin I deficiency. 54 61
12356110 2002
10
Methionine synthase deficiency without megaloblastic anaemia. 61 54
9453374 1997
11
Identification of two mutant alleles of transcobalamin II in an affected family. 61 54
7849710 1994
12
Dementia patients with low serum cobalamin concentration: relationship to atrophic gastritis. 61 54
1627675 1992
13
Electrochemical sensing of vitamin B12 deficiency marker methylmalonic acid using PdAu-PPy tailored carbon fiber paper electrode. 61
32498897 2020
14
Valproate and folate: Congenital and developmental risks. 61
32375098 2020
15
Nutritional neuropathies. 61
31837157 2020
16
Characterisation of the types of anaemia prevalent among children and adolescents aged 1-19 years in India: a population-based study. 61
32562633 2020
17
Of dots and levels: a case of partial subacute combined degeneration. 61
32539584 2020
18
Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation. 61
32195121 2020
19
Microangiopathic haemolytic anaemia and thrombocytopenia due to combined vitamin B12 and folate deficiency masquerading as thrombotic thrombocytopenic purpura. 61
32568285 2020
20
Multifocal early gastric cancer in a patient with atrophic gastritis and pernicious anemia. 61
32563836 2020
21
Three infants with megaloblastic anemia caused by maternal vitamin B12 deficiency. 61
32537845 2020
22
Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child. 61
32045704 2020
23
ANNALS EXPRESS: Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index. 61
32482081 2020
24
Adequate or elevated dietary folate does not ameliorate the reduced antioxidant capacity induced by vitamin B12 deficiency in aged rats. 61
30747607 2020
25
The role of Helicobacter pylori in vitamin-B12 deficiency due to metformin use. 61
32559822 2020
26
[Reversible dementia in a patient with vitamin B12 deficiency: Presentation of a case]. 61
32499054 2020
27
Biosynthesis of vitamin B12 by Propionibacterium freudenreichii subsp. shermanii ATCC 13673 using liquid acid protein residue of soybean as culture medium. 61
32356411 2020
28
Smart link of chronic atrophic gastritis with atrophic glossitis, gastric parietal cell antibody positivity, vitamin B12 deficiency, and hyperhomocysteinemia. 61
32024596 2020
29
Association of vitamin B12 deficiency in people with type 2 diabetes on metformin and without metformin: a multicenter study, Karachi, Pakistan. 61
32448786 2020
30
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy. 61
32443888 2020
31
Burning Erythematous Oral Macules as the Presenting Manifestation of Vitamin B12 Deficiency. 61
31615625 2020
32
Maternal vitamin B12 deficiency in rats alters DNA methylation in metabolically important genes in their offspring. 61
32189172 2020
33
Cerebral atrophy in 21 hypotonic infants with severe vitamin B12 deficiency. 61
31868292 2020
34
Hematological findings associated with neurodevelopmental delay in infants with vitamin B12 deficiency. 61
32449135 2020
35
Vitamin B12 deficiency in Indian infants and children. 61
32338199 2020
36
Mass spectrometry analysis of urinary methylmalonic acid to screen for metabolic vitamin B12 deficiency in older adults. 61
32559133 2020
37
Lessons of the month: Nitrous oxide-induced functional vitamin B12 deficiency causing subacute combined degeneration of the spinal cord. 61
32414730 2020
38
A variety of abnormal movements in 13 cases with nutritional cobalamin deficiency in infants. 61
32388477 2020
39
The relationship of severity of depression with homocysteine, folate, vitamin B12, and vitamin D levels in children and adolescents. 61
32304285 2020
40
Metformin Usage Index and assessment of vitamin B12 deficiency among metformin and non-metformin users with type 2 diabetes mellitus. 61
32266492 2020
41
Infantile Tremor Syndrome Followed by West Syndrome: Effect or Continuation of Spectrum? 61
32236484 2020
42
Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency. 61
32258326 2020
43
Say N2O to Drugs: A Unique Presentation of Symptomatic Vitamin B12 Deficiency. 61
31585064 2020
44
Health outcomes associated with vegetarian diets: An umbrella review of systematic reviews and meta-analyses. 61
32204974 2020
45
A Rapid Quantitative Chemiluminescence Immunoassay for Vitamin B12 in Human Serum. 61
32162880 2020
46
Concerning "Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes" by Farwell Gonzalez et al. 61
31378948 2020
47
Vitamin B12 Regulates Glial Migration and Synapse Formation through Isoform-Specific Control of PTP-3/LAR PRTP Expression. 61
32209461 2020
48
Trace Element Status in Children with Infantile Tremor Syndrome: An Inductively Coupled Plasma-Mass Spectrometry Based Study. 61
31997238 2020
49
Vitamin B12 Deficiency Anemia and Polyneuropathy Due to Chronic Radiation Enteritis. 61
31735792 2020
50
Role of Pernicious Anemia in Patients Admitted to Internal Medicine with Vitamin B12 Deficiency and Oral Replacement Therapy as a Treatment Option. 61
32162860 2020

Variations for Vitamin B12 Deficiency

ClinVar genetic disease variations for Vitamin B12 Deficiency:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AMN NM_030943.3(AMN):c.318_319CT[3] (p.Asp108fs)short repeat Pathogenic 523538 rs1555381324 14:103395116-103395117 14:102928779-102928780
2 AMN NM_030943.3(AMN):c.149T>C (p.Phe50Ser)SNV Uncertain significance 523537 rs772475317 14:103390153-103390153 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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 TCN2 TCN1 PON1 MTR MTHFR MMUT
2
Show member pathways
13.52 TCN2 MTR MMUT MMACHC CUBN CD320
3
Show member pathways
12.3 TCN2 TCN1 MTR MTHFR MMUT MMACHC
4
Show member pathways
12.19 TCN2 TCN1 MTR MTHFR MMUT GPX3
5
Show member pathways
12.1 MTR MTHFR MMUT GPT
6
Show member pathways
11.73 TCN2 MTR MMUT MMACHC CUBN CD320
7 11.1 TCN2 MMACHC LMBRD1 CUBN CBLIF
8 10.64 TCN2 TCN1 MTR MMUT MMACHC LMBRD1
9
Show member pathways
10.43 CUBN CBLIF AMN
10 10.3 GAST CBLIF
11 10.13 GAST ATP4A

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 extracellular space GO:0005615 9.32 TCN2 TCN1 PON1 GPX3 GPT GAST
2 lysosomal lumen GO:0043202 9.13 TCN2 CUBN CBLIF

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin transport GO:0015889 9.5 TCN2 TCN1 LMBRD1 CUBN CD320 CBLIF
2 cellular sodium ion homeostasis GO:0006883 9.48 ATP4A ATP12A
3 sodium ion export across plasma membrane GO:0036376 9.46 ATP4A ATP12A
4 cellular potassium ion homeostasis GO:0030007 9.43 ATP4A ATP12A
5 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.4 ATP4A ATP12A
6 high-density lipoprotein particle clearance GO:0034384 9.37 CUBN AMN
7 cobalt ion transport GO:0006824 9.33 TCN2 TCN1 CBLIF
8 methionine biosynthetic process GO:0009086 9.32 MTR MTHFR
9 cobalamin metabolic process GO:0009235 9.32 TCN2 TCN1 MTR MMUT MMACHC LMBRD1
10 homocysteine metabolic process GO:0050667 9.26 MTHFR MMUT

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

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 9.37 ATP4A ATP12A
2 potassium-transporting ATPase activity GO:0008556 9.32 ATP4A ATP12A
3 cobalamin binding GO:0031419 9.28 TCN2 TCN1 MTR MMUT MMACHC LMBRD1
4 modified amino acid binding GO:0072341 9.26 MTHFR MMUT
5 cobalamin-transporting ATPase activity GO:0015420 9.16 LMBRD1 CD320
6 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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