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 56 15 17
Cobalamin Deficiency 12 30 6
Vitamin B 12 Deficiency 74
Hypocobalaminemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050731
UMLS 74 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 pernicious anemia and transcobalamin ii deficiency. An important gene associated with Vitamin B12 Deficiency is AMN (Amnion Associated Transmembrane Protein), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Selenium Micronutrient Network. The drugs Hydroxocobalamin and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include tongue, testes and spinal cord, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

Wikipedia : 77 Vitamin B12 deficiency, also known as cobalamin deficiency, is the medical condition of low blood levels... 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 216)
# Related Disease Score Top Affiliating Genes
1 pernicious anemia 33.3 TCN1 TCN2
2 transcobalamin ii deficiency 32.2 MTHFR MTR TCN1 TCN2
3 megaloblastic anemia 31.4 AMN MTHFR MTR TCN1 TCN2
4 iron metabolism disease 30.7 EPO TF
5 homocysteinemia 30.5 MTHFR MTR
6 pancytopenia 30.4 EPO TCN2
7 iron deficiency anemia 30.4 EPO TF
8 neural tube defects, folate-sensitive 30.3 MTHFR MTR
9 homocystinuria 30.2 MTHFR MTR TCN2
10 hemoglobin h disease 30.0 EPO TF
11 neural tube defects 29.9 MTHFR MTR TCN2
12 megaloblastic anemia 1 11.7
13 congenital intrinsic factor deficiency 11.6
14 atrophic gastritis 11.5
15 diphyllobothriasis 11.2
16 blind loop syndrome 11.2
17 autoimmune atrophic gastritis 11.2
18 bothriocephalosis 11.2
19 neuropathy 10.6
20 dementia 10.4
21 peripheral nervous system disease 10.4
22 deficiency anemia 10.4
23 diabetes mellitus 10.4
24 optic nerve disease 10.4
25 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.3 MTHFR MTR
26 ariboflavinosis 10.3 MTHFR TF
27 adult acute lymphocytic leukemia 10.3 MTHFR MTR
28 amino acid metabolic disorder 10.3 MTHFR MTR
29 multiple sclerosis 10.3
30 acquired polycythemia 10.3 EPO TF
31 folic acid deficiency anemia 10.3 EPO TF
32 plethora of newborn 10.2 EPO TF
33 pure red-cell aplasia 10.2 EPO TF
34 hepatic infarction 10.2 ADAM17 MTHFR
35 phenylketonuria 10.2
36 west syndrome 10.2
37 thrombotic thrombocytopenic purpura 10.2
38 purpura 10.2
39 gastritis 10.2
40 analbuminemia 10.2 EPO TF
41 central nervous system lymphoma 10.2 MTR TCN2
42 hepatic vascular disease 10.2 ADAM17 MTHFR
43 hemosiderosis 10.2 EPO TF
44 crohn's disease 10.2
45 thrombosis 10.2
46 vein disease 10.2 ADAM17 MTHFR
47 splenic disease 10.2 ADAM17 EPO
48 lipoid nephrosis 10.1 CD79A TF
49 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.1 MTHFR MTR TCN2
50 hemoglobinopathy 10.1 EPO TF

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 CD79A EPO MTHFR MTR

MGI Mouse Phenotypes related to Vitamin B12 Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 ACADVL ADAM17 CD79A CGA EPO MTHFR

Drugs & Therapeutics for Vitamin B12 Deficiency

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

(show top 50) (show all 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 13422-51-0 11953898 15589840
2
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 13422-55-4
3
Omeprazole Approved, Investigational, Vet_approved Phase 4,Not Applicable 73590-58-6 4594
4
Iron Approved, Experimental Phase 4,Not Applicable 7439-89-6, 15438-31-0 23925 27284
5
Tocopherol Approved, Investigational Phase 4 1406-66-2 14986
6
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
7
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 68-19-9 44176380
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 59-30-3 6037
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
10
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable 65-23-6 1054
11
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
12
Cobalamin Experimental Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 13408-78-1 6857388
13 Tocotrienol Investigational Phase 4 6829-55-6
14 Vitamin B 12 Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
15 Hematinics Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
16 Retinol palmitate Phase 4
17 Nutrients Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
18 Vitamin B Complex Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
19 retinol Phase 4
20 Trace Elements Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
21 Vitamins Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
22 Micronutrients Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
23 Vitamin B9 Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
24 Folate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
25 Vitamin B12 Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
26 Anti-Ulcer Agents Phase 4
27 Antacids Phase 4
28 Proton Pump Inhibitors Phase 4,Not Applicable
29 Gastrointestinal Agents Phase 4
30 Tocopherols Phase 4
31 Antioxidants Phase 4,Phase 2
32 Tocotrienols Phase 4
33 Protective Agents Phase 4
34 Thiamin Phase 4
35 Vitamin B 6 Phase 4,Phase 3,Not Applicable
36
Pyridoxal Experimental, Nutraceutical Phase 4,Phase 3,Not Applicable 66-72-8 1050
37
leucovorin Approved Phase 2, Phase 3,Phase 3,Not Applicable 58-05-9 6006 143
38
Levodopa Approved Phase 2, Phase 3 59-92-7 6047
39 Vaccines Phase 2, Phase 3
40 Ubiquinone Phase 2
41
Metformin Approved ,Not Applicable 657-24-9 14219 4091
42
Parathyroid hormone Approved, Investigational Not Applicable 9002-64-6
43
Iodine Approved, Investigational Not Applicable 7553-56-2 807
44
Acetylcysteine Approved, Investigational 616-91-1 12035
45
Nitrous oxide Approved, Vet_approved Not Applicable 10024-97-2 948
46
Quinidine Approved, Investigational 56-54-2 441074
47
Memantine Approved, Investigational 19982-08-2 4054
48
Dextromethorphan Approved 125-71-3 5362449 5360696
49
Vitamin D Approved, Nutraceutical, Vet_approved ,Not Applicable 1406-16-2
50
Calcium Approved, Nutraceutical ,Not Applicable 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 Vitamin Deficiencies and Suppletion in Morbid Obesity Unknown status NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
2 How Many Patients Are in Need of Vitamin B12 Injections? Unknown status NCT00326833 Phase 4 vitamin B12
3 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
4 The Role of Methycobalamin in Early Dementia Patients With Vitamin B12 Deficiency and Hyperhomocysteinaemia. Completed NCT00165711 Phase 4 Mecobalamin
5 Vitamin B12 Acceptance and Biomarker Response Study Completed NCT01832129 Phase 4 Oral administration of vitamin B12;i.m. injection of vitamin B12
6 Vitamin B12 Supplement to Prevent Cognitive Decline Completed NCT02457507 Phase 4
7 Postoperative Vitamin Supplementation in Morbidly Obese Patient (VITAAL Study) Completed NCT01609387 Phase 4
8 Megadose of Hydroxocobalamin for the Treatment of Pernicious Anemia Recruiting NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg
9 Vitamin B12 Supplementation During Pregnancy on Cognitive Development Recruiting NCT03071666 Phase 2, Phase 3
10 Vitamin B12 Supplementation During Pregnancy Completed NCT01795131 Phase 2, Phase 3
11 Vitamin B12, Neurodevelopment and Growth in Nepal Active, not recruiting NCT02272842 Phase 2, Phase 3
12 Vitamin B12 Status and Response to Vitamin B12 Supplementation in Patients With Parkinson's Disease Terminated NCT00208611 Phase 2, Phase 3
13 Study of Pylopass Versus Placebo in Subjects Who Are Helicobacter Pylori Carriers and With Mild Indigestion Completed NCT02051348 Phase 2, Phase 3
14 WENBIT - Western Norway B Vitamin Intervention Trial Completed NCT00354081 Phase 3 folic acid, vitamin B12 (cyanocobalamin), vitamin B6 (pyridoxine);folic acid, vitamin B12 (cyanocobalamin);vitamin B6 (pyridoxine);placebo
15 Oral Vitamin B12 Administration for Vitamin B12 Deficiency After Total Gastrectomy Completed NCT00699478 Phase 2 mecobalamin
16 Can Recombinant Human Intrinsic Factor Be Used for Evaluation of the Vitamin B12 Absorption? Completed NCT00279552 Phase 2 Recombinant human intrinsic factor
17 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
18 Nutritional Safety and Metabolic Benefits of Oncometabolic Surgery for Obese Gastric Cancer Patients Unknown status NCT03067012 Not Applicable
19 Comparison of Vitamin B12 Supplementation to Selective Serotonin Reuptake Inhibitor (SSRI) Versus SSRI Antidepressant Treatment Alone Unknown status NCT00939718 Not Applicable
20 Resting Energy Expenditure and Nutritional Status in IBD Unknown status NCT02275676
21 The Impact of Vitamin B12 Deficiency on Infant Gut Microbiota Completed NCT03365583
22 Autoantibodies to Gastric Parietal Cells in Rheumatoid Arthritis Patients Completed NCT01876329
23 Long-term Use of Proton Pump Inhibitors May Cause Vitamin B12 Deficiency in the Institutionalized Elderly Completed NCT00843453 Not Applicable treatment (cyanocobalamin nasal spray)
24 Oral/Intramuscular B12 to Treat Cobalamin Deficiency Completed NCT01476007 Not Applicable oral Cobalamin (vitamin B12);intramuscular Cobalamin (vitamin B12)
25 Metformin Use and Vitamin B12 Deficiency Completed NCT01136512
26 Vitamin B12 Supplementation Study Completed NCT00826657 Not Applicable
27 Impact of Vitamin B12 Replacement on Epogen Dosing and Improvement of Quality of Life in Hemodialysis Patients Completed NCT01876732 Not Applicable Vitamin B12
28 Cobalamin Status in Young Children With Gastrointestinal Symptoms or Feeding Problems Completed NCT00710359 Not Applicable
29 Cobalamin Status in Young Children With Developmental Delay Completed NCT00710138 Not Applicable
30 Study to Identify Adequate Biomarker to Detect Vitamin B12 Deficiency in Type 2 Diabetic Patients Treated With Metformin Completed NCT02111967
31 The Association Between Religious Origin and Age, and Vitamin B12 and Folic Acid Plasma Levels in Non Jewish Population in Western Galilee Completed NCT01297361 Not Applicable
32 Cobalamin Supplementation During Infancy; Effect on B-vitamin Status, Growth and Psychomotor Development Completed NCT00479479 Not Applicable Hydroxycobalamin (Vitamin B12 Depot, Nycomed Pharma)
33 Randomized Trial of Quadruple Fortified Salt Not yet recruiting NCT03853304 Not Applicable
34 Effects of Vitamin B12 Treatment in Singers Recruiting NCT03437824 Early Phase 1 Cyanocobalamin;Placebo
35 Relative Bioavailability of Folic Acid and L-5-Methlytetrahydrofolate Completed NCT01584050 Not Applicable
36 Efficacy and Safety Study of Oral Eligen® B12 in Subjects With Low Serum Cobalamin Completed NCT01312831 Not Applicable
37 Holotranscobalamin Remains Unchanged During Pregnancy Completed NCT00467623
38 Supplementary Vitamin B12 Effects on Elevated Homocysteine Levels of Vegetarians - Clinical Trial Completed NCT01661309 Not Applicable
39 Comparison of Two Pharmacist-led Population Management Approaches to Increase Monitoring of Vitamin B12 and Serum Creatinine Levels for Patients on Metformin Completed NCT02076347 Not Applicable
40 Maternal B12 Supplementation to Improve Infant B12 Deficiency and Neurodevelopment Not yet recruiting NCT03783104 Not Applicable
41 Effect of Toothpaste Fortified With Cyanocobalamin on Vitamin B12 Status Completed NCT02679833 Not Applicable
42 Study of the Association of Muscle Strength, Balance and Other Factors With Vitamin Levels Among Elderly Diabetics Completed NCT03376490
43 Cobalamin Absorption From Fortified Food Completed NCT01399164 Not Applicable
44 Effect of Vitamin B12 Supplementation on Glycaemic Control in Uncontrolled Hyperhomocysteinemic Type 2 Diabetic Patients Completed NCT02540642 Not Applicable
45 Supplementation of Critical Nutrients in a Plant-based Diet Completed NCT03542591
46 The Vitamin B Status in Type 2 Diabetes (VITA) Study Completed NCT03447275
47 Cracking the Egg Potential: Improving Young Child Nutrition in Ecuador Completed NCT02446873 Not Applicable
48 Oral Vitamin B12 Supplementation and Cognitive Performance in Elderly People Completed NCT00111267 Not Applicable
49 Evaluation of Holotranscobalamin as an Indicator of Vitamin B12 Absorption Completed NCT00235573 Not Applicable
50 NAC-003 P.L.U.S. Program (Progress Through Learning Understanding & Support) Completed NCT01370954

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 30

Anatomical Context for Vitamin B12 Deficiency

MalaCards organs/tissues related to Vitamin B12 Deficiency:

42
Tongue, Testes, Spinal Cord, Bone, Brain, Skin, Bone Marrow

Publications for Vitamin B12 Deficiency

Articles related to Vitamin B12 Deficiency:

(show top 50) (show all 1303)
# Title Authors Year
1
Chronic diarrhea: an unusual clinical presentation of vitamin B12 deficiency? ( 30835056 )
2019
2
Methylmalonic Acid and Homocysteine as Indicators of Vitamin B12 Deficiency in Patients with Gastric Cancer after Gastrectomy. ( 30795564 )
2019
3
Vitamin B12 Deficiency in Patients With Unexplained Portal Hypertension Indicates Absence of Severe Liver Fibrosis. ( 30742603 )
2019
4
Comparison of sublingual vs. intramuscular administration of vitamin B12 for the treatment of patients with vitamin B12 deficiency. ( 30632091 )
2019
5
High Prevalence and Factors Contributing to Hyperhomocysteinemia, Folate Deficiency, and Vitamin B12 Deficiency among Healthy Adults in Shanghai, China. ( 30696543 )
2019
6
Adequate or elevated dietary folate does not ameliorate the reduced antioxidant capacity induced by vitamin B12 deficiency in aged rats. ( 30747607 )
2019
7
Homologous G776G Variant of Transcobalamin-II Gene is Linked to Vitamin B12 Deficiency. ( 30761942 )
2019
8
An uncommon presentation of hyperhomocysteinemia and vitamin B12 deficiency: a case report. ( 30773142 )
2019
9
Association Of Vitamin B12 Deficiency With Intake Of Oral Metformin In Diabetic Patients. ( 30868788 )
2019
10
Mean cell volume of reticulocyte-A new parameter for diagnosing sub-clinical cobalamin deficiency in blood donors. ( 30006950 )
2019
11
Vitamin B12 Deficiency and the Role of Gender: A Cross-Sectional Study of a Large Cohort. ( 29597190 )
2018
12
Identification of vitamin B12 deficiency in vegetarian Indians. ( 29446340 )
2018
13
Vitamin B12 deficiency and impaired expression of amnionless during aging. ( 29159972 )
2018
14
Comparison of the efficacy of parenteral and oral treatment for nutritional vitamin B12 deficiency in children. ( 29577819 )
2018
15
Invited commentary in response to: 'Identification of vitamin B12 deficiency in vegetarian Indians'. ( 29661265 )
2018
16
Evaluation of diffusion tensor imaging changes and neurocognitive effects of asymptomatic vitamin B12 deficiency. ( 29663261 )
2018
17
Thrombotic Microangiopathy-Like Hemolysis in Vitamin B12 Deficiency-Related Macrocytic Anemia. ( 29739088 )
2018
18
Vitamin B12 deficiency and clinical laboratory: Lessons revisited and clarified in seven questions. ( 29741251 )
2018
19
The influence of thyroid diseases, diabetes mellitus, primary hyperparathyroidism, vitamin B12 deficiency and other comorbid autoimmune diseases on treatment outcome in patients with rheumatoid arthritis: An exploratory cohort study. ( 29794789 )
2018
20
Factors correlating to the propensity of general practitioners to substitute borderline vitamin B12 deficiency. ( 29933709 )
2018
21
Mixed neuropsychiatric clinical manifestations associated with vitamin B12 deficiency. ( 29886402 )
2018
22
Computer-assisted interventions in the clinical laboratory process improve the diagnosis and treatment of severe vitamin B12 deficiency. ( 29715174 )
2018
23
Evaluation of Vitamin B12 Deficiency and Associated Factors in Patients With Systemic Sclerosis. ( 29384828 )
2018
24
Vitamin B12 Deficiency as a Cause of Neurotrophic Keratopathy. ( 29541277 )
2018
25
CA 15-3 predicting breast cancer relapse: beware of vitamin B12 deficiency. ( 29745746 )
2018
26
Vitamin B12 deficiency associated with hyperbilirubinemia and cholestasis in infants. ( 30034445 )
2018
27
The Evaluation of Ophthalmic Findings in Women Patients With Iron and Vitamin B12 Deficiency Anemia. ( 30159209 )
2018
28
The association of metformin use with vitamin B12 deficiency and peripheral neuropathy in Saudi individuals with type 2 diabetes mellitus. ( 30321183 )
2018
29
Reversible neurogenic dysphagia: A rare presentation of vitamin b12 deficiency. ( 30505958 )
2018
30
The association between serum vitamin B12 deficiency and tension-type headache in Turkish children. ( 29520674 )
2018
31
Neuropathy by folic acid supplementation in a patient with anaemia and an untreated cobalamin deficiency: a case report. ( 29852529 )
2018
32
Vitamin B12 deficiency presenting with hyperpigmentation and pancytopenia. ( 30112325 )
2018
33
Simultaneous pulmonary thromboembolism and superior mesenteric venous thrombosis associated with hyperhomocysteinemia secondary to pernicious anemia-induced vitamin B12 deficiency. ( 30057976 )
2018
34
Thalassemia minor presenting with vitamin B12 deficiency, paraparesis, and microcytosis. ( 30214334 )
2018
35
Microangiopathic haemolytic anaemia with thrombocytopenia induced by vitamin B12 deficiency long term after gastrectomy. ( 30232206 )
2018
36
Prevalence of vitamin B12 deficiency in healthy Indian school-going adolescents from rural and urban localities and its relationship with various anthropometric indices: a cross-sectional study. ( 29468754 )
2018
37
Do the benefits of folic acid fortification outweigh the risk of masking vitamin B12 deficiency? ( 29496696 )
2018
38
Vitamin B12 deficiency - detection and treatment considerations. ( 30007795 )
2018
39
Vitamin B12 Deficiency in Children With Infantile Spasms: A Case-Control Study. ( 30032694 )
2018
40
Subclinical atherosclerosis and impaired cardiac autonomic control in pediatric patients with Vitamin B12 deficiency. ( 30074003 )
2018
41
Association of metformin use with vitamin B12 deficiency in the institutionalized elderly. ( 30114554 )
2018
42
Diagnostic value of oral "beefy red" patch in vitamin B12 deficiency. ( 30122939 )
2018
43
Uncommon manifestations of Vitamin B12 deficiency. ( 30166687 )
2018
44
Spontaneous Left Anterior Descending Artery Dissection in a Middle-Aged Woman with Vitamin B12 Deficiency Treated with Coronary Artery Bypass Grafting. ( 30186709 )
2018
45
Simultaneous acute presentation of generalized chorea and subacute combined degeneration secondary to vitamin B12 deficiency. ( 30220555 )
2018
46
Vitamin B12 Deficiency Induces Imbalance in Melanocytes Homeostasis-A Cellular Basis of Hypocobalaminemia Pigmentary Manifestations. ( 30235895 )
2018
47
Expert comment to "Simultaneous acute presentation of generalized chorea and subacute combined degeneration of the spinal cord secondary to vitamin B12 deficiency". ( 30236827 )
2018
48
Systematic Review and Pragmatic Clinical Approach to Oral and Nasal Vitamin B12 (Cobalamin) Treatment in Patients with Vitamin B12 Deficiency Related to Gastrointestinal Disorders. ( 30261596 )
2018
49
Vitamin B12 deficiency-induced pseudothrombotic microangiopathy without macrocytosis presenting with acute renal failure: a case report. ( 30285873 )
2018
50
Neuropathology of vitamin B12 deficiency in the Cd320-/- mouse. ( 30303736 )
2018

Variations for Vitamin B12 Deficiency

ClinVar genetic disease variations for Vitamin B12 Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AMN NM_030943.3(AMN): c.149T> C (p.Phe50Ser) single nucleotide variant Uncertain significance rs772475317 GRCh38 Chromosome 14, 102923816: 102923816
2 AMN NM_030943.3(AMN): c.149T> C (p.Phe50Ser) single nucleotide variant Uncertain significance rs772475317 GRCh37 Chromosome 14, 103390153: 103390153
3 AMN NM_030943.3(AMN): c.320_321dup (p.Asp108Leufs) duplication Pathogenic rs1555381324 GRCh38 Chromosome 14, 102928782: 102928783
4 AMN NM_030943.3(AMN): c.320_321dup (p.Asp108Leufs) duplication Pathogenic rs1555381324 GRCh37 Chromosome 14, 103395119: 103395120

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 AMN MTHFR MTR TCN1 TCN2
2
Show member pathways
11.79 MTHFR MTR TCN1 TCN2
3
Show member pathways
11.65 MTHFR MTR TCN2
4
Show member pathways
11.4 AMN MTR TCN2
5 11.05 EPO TF
6 10.25 AMN MTR TCN1 TCN2

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 clathrin-coated pit GO:0005905 9.26 AMN TF
2 endocytic vesicle GO:0030139 9.16 AMN TF
3 apical plasma membrane GO:0016324 9.13 ADAM17 AMN TF
4 extracellular space GO:0005615 9.1 AMN CGA EPO TCN1 TCN2 TF

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

# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.5 ADAM17 EPO MTHFR
2 blood circulation GO:0008015 9.43 EPO MTHFR
3 response to interleukin-1 GO:0070555 9.4 EPO MTHFR
4 response to axon injury GO:0048678 9.37 EPO MTR
5 methionine biosynthetic process GO:0009086 9.26 MTHFR MTR
6 cobalt ion transport GO:0006824 9.16 TCN1 TCN2
7 cobalamin transport GO:0015889 9.13 AMN TCN1 TCN2
8 cobalamin metabolic process GO:0009235 8.92 AMN MTR TCN1 TCN2

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin binding GO:0031419 8.8 MTR TCN1 TCN2

Sources for Vitamin B12 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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