MCID: VTM003
MIFTS: 24

Vitamin Metabolic Disorder

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Vitamin Metabolic Disorder

MalaCards integrated aliases for Vitamin Metabolic Disorder:

Name: Vitamin Metabolic Disorder 12 15 17

Classifications:



External Ids:

Disease Ontology 12 DOID:0050718

Summaries for Vitamin Metabolic Disorder

Disease Ontology : 12 An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.

MalaCards based summary : Vitamin Metabolic Disorder is related to glutamate formiminotransferase deficiency and vitamin b12 deficiency. An important gene associated with Vitamin Metabolic Disorder is SLC46A1 (Solute Carrier Family 46 Member 1), and among its related pathways/superpathways are Metabolism and HIV Life Cycle. Related phenotype is homeostasis/metabolism.

Related Diseases for Vitamin Metabolic Disorder

Diseases in the Vitamin Metabolic Disorder family:

Disorders of Vitamin D Metabolism

Diseases related to Vitamin Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 147)
# Related Disease Score Top Affiliating Genes
1 glutamate formiminotransferase deficiency 31.9 MTR MMAA LMBRD1
2 vitamin b12 deficiency 29.8 TCN2 TCN1 MTRR MTR MTHFR MMUT
3 folate malabsorption, hereditary 11.0
4 ataxia with vitamin 3 deficiency 11.0
5 pyridoxamine 5-prime-phosphate oxidase deficiency 11.0
6 cerebral folate receptor alpha deficiency 11.0
7 sudden sensorineural hearing loss 10.4 MTR MTHFR
8 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.4 MTR MTHFR
9 copper deficiency myelopathy 10.4 MTR CBLIF
10 anal gland adenocarcinoma 10.4 TCN2 CD320
11 anus adenocarcinoma 10.4 TCN2 CD320
12 vagus nerve disease 10.4 ATP4A ATP12A
13 necrotizing gastritis 10.4 ATP4A ATP12A
14 scalp dermatosis 10.4 ATP4A ATP12A
15 hemangioma of intra-abdominal structure 10.4 ATP4A ATP12A
16 acquired gastric outlet stenosis 10.4 ATP4A ATP12A
17 lingual goiter 10.4 ATP4A ATP12A
18 bacterial esophagitis 10.4 ATP4A ATP12A
19 cascade stomach 10.4 ATP4A ATP12A
20 benzylpenicillin allergy 10.4 ATP4A ATP12A
21 diphyllobothriasis 10.4 CBLIF AMN
22 median arcuate ligament syndrome 10.4 ATP4A ATP12A
23 afferent loop syndrome 10.4 ATP4A ATP12A
24 cervix erosion 10.4 ATP4A ATP12A
25 angiodysplasia of intestine 10.4 ATP4A ATP12A
26 laryngeal tuberculosis 10.4 ATP4A ATP12A
27 fungal esophagitis 10.4 ATP4A ATP12A
28 dieulafoy lesion 10.4 ATP4A ATP12A
29 esophagus melanoma 10.4 ATP4A ATP12A
30 cefuroxime allergy 10.4 ATP4A ATP12A
31 spleen angiosarcoma 10.4 TCN2 CD320
32 emphysematous cholecystitis 10.4 ATP4A ATP12A
33 superior mesenteric artery syndrome 10.4 ATP4A ATP12A
34 pneumatosis cystoides intestinalis 10.4 ATP4A ATP12A
35 chronic laryngitis 10.4 ATP4A ATP12A
36 laryngitis 10.4 ATP4A ATP12A
37 peptic ulcer perforation 10.4 ATP4A ATP12A
38 viral laryngitis 10.4 ATP4A ATP12A
39 gastroduodenal crohn's disease 10.4 ATP4A ATP12A
40 polyposis, skin pigmentation, alopecia, and fingernail changes 10.4 ATP4A ATP12A
41 central nervous system origin vertigo 10.4 ATP4A ATP12A
42 rumination disorder 10.4 ATP4A ATP12A
43 methylmalonic aciduria and homocystinuria type cblg 10.4 MTRR MTR
44 methylmalonic aciduria and homocystinuria type cble 10.4 MTRR MTR
45 internal hemorrhoid 10.4 ATP4A ATP12A
46 hemorrhoid 10.4 ATP4A ATP12A
47 acute laryngitis 10.4 ATP4A ATP12A
48 chronic intestinal vascular insufficiency 10.4 ATP4A ATP12A
49 barbiturate abuse 10.4 ATP4A ATP12A
50 gastric dilatation 10.4 ATP4A ATP12A

Graphical network of the top 20 diseases related to Vitamin Metabolic Disorder:



Diseases related to Vitamin Metabolic Disorder

Symptoms & Phenotypes for Vitamin Metabolic Disorder

MGI Mouse Phenotypes related to Vitamin Metabolic Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.47 ATP12A ATP4A CBLIF CD320 CUBN GAST

Drugs & Therapeutics for Vitamin Metabolic Disorder

Search Clinical Trials , NIH Clinical Center for Vitamin Metabolic Disorder

Genetic Tests for Vitamin Metabolic Disorder

Anatomical Context for Vitamin Metabolic Disorder

Publications for Vitamin Metabolic Disorder

Variations for Vitamin Metabolic Disorder

Expression for Vitamin Metabolic Disorder

Search GEO for disease gene expression data for Vitamin Metabolic Disorder.

Pathways for Vitamin Metabolic Disorder

Pathways related to Vitamin Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 TCN2 TCN1 SLC46A1 PNPO MTRR MTR
2
Show member pathways
13.54 TCN2 MTRR MTR MMUT MMADHC MMACHC
3
Show member pathways
12.29 TCN2 TCN1 SLC46A1 PNPO MTRR MTR
4
Show member pathways
12.13 TCN2 TCN1 SLC46A1 PNPO MTRR MTR
5
Show member pathways
11.91 TCN2 MTRR MTR MTHFR
6
Show member pathways
11.86 TCN2 MTRR MTR MMUT MMADHC MMACHC
7 11.18 TCN2 SLC46A1 MMACHC LMBRD1 CUBN CBLIF
8 11.09 TCN2 TCN1 MTRR MTR MMUT MMADHC
9
Show member pathways
10.43 CUBN CBLIF AMN
10 10.37 GAST CBLIF
11 10.21 GAST ATP4A
12
Show member pathways
10.1 MMUT MMAA
13
Show member pathways
10.08 MTRR MTR

GO Terms for Vitamin Metabolic Disorder

Cellular components related to Vitamin Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 9.13 TCN2 CUBN CBLIF
2 brush border membrane GO:0031526 8.8 SLC46A1 CUBN AMN

Biological processes related to Vitamin Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 TCN2 TCN1 CBLIF ATP4A ATP12A
2 proton transmembrane transport GO:1902600 9.72 SLC46A1 ATP4A ATP12A
3 cellular sodium ion homeostasis GO:0006883 9.56 ATP4A ATP12A
4 sodium ion export across plasma membrane GO:0036376 9.54 ATP4A ATP12A
5 folic acid metabolic process GO:0046655 9.54 SLC46A1 MTRR MTHFR
6 cellular potassium ion homeostasis GO:0030007 9.52 ATP4A ATP12A
7 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.51 ATP4A ATP12A
8 methionine biosynthetic process GO:0009086 9.5 MTRR MTR MTHFR
9 cobalamin transport GO:0015889 9.5 TCN2 TCN1 LMBRD1 CUBN CD320 CBLIF
10 high-density lipoprotein particle clearance GO:0034384 9.49 CUBN AMN
11 methionine metabolic process GO:0006555 9.48 MTRR MTHFR
12 sulfur amino acid metabolic process GO:0000096 9.46 MTRR MTR
13 cobalamin metabolic process GO:0009235 9.44 TCN2 TCN1 MTRR MTR MMUT MMADHC
14 short-chain fatty acid catabolic process GO:0019626 9.43 MMUT MMAA
15 homocysteine metabolic process GO:0050667 9.43 MTRR MTHFR MMUT
16 cobalamin biosynthetic process GO:0009236 9.4 MMACHC MMAA
17 cobalt ion transport GO:0006824 9.33 TCN2 TCN1 CBLIF

Molecular functions related to Vitamin Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 FMN binding GO:0010181 9.43 PNPO MTRR
2 FAD binding GO:0071949 9.43 MTRR MTHFR MMACHC
3 sodium:potassium-exchanging ATPase activity GO:0005391 9.4 ATP4A ATP12A
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 Metabolic Disorder

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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