MCID: DSR002
MIFTS: 19

Disorders of Intracellular Cobalamin Metabolism malady

Genetic diseases (common), Metabolic diseases categories

Aliases & Classifications for Disorders of Intracellular Cobalamin Metabolism

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Disorders of Intracellular Cobalamin Metabolism, Aliases & Descriptions:

Name: Disorders of Intracellular Cobalamin Metabolism 19 20


Classifications:



Summaries for Disorders of Intracellular Cobalamin Metabolism

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MalaCards based summary: Disorders of Intracellular Cobalamin Metabolism is related to homocysteinemia and neural tube defects, folate-sensitive. An important gene associated with Disorders of Intracellular Cobalamin Metabolism is MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase), and among its related pathways are One carbon pool by folate and Metabolism of amino acids and derivatives. The compounds cob(ii)alamin and Cob(I)alamin have been mentioned in the context of this disorder.

GeneReviews summary for cbl

Related Diseases for Disorders of Intracellular Cobalamin Metabolism

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Diseases related to Disorders of Intracellular Cobalamin Metabolism via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1homocysteinemia10.3MTR
2neural tube defects, folate-sensitive10.0MTR, MTRR
3megaloblastic anemia10.0MTRR, MTR
4neural tube defects10.0MTR, MTRR
5cleft lip10.0MTR, MTRR
6vascular disease10.0MTRR, MTR
7hyperhomocysteinemia9.9MTRR, MTR
8methylmalonic acidemia9.9MMACHC, MTR, MMADHC
9down syndrome9.8MTRR, MTR
10homocystinuria9.7MMADHC, MMACHC, MTRR, MTR

Graphical network of diseases related to Disorders of Intracellular Cobalamin Metabolism:



Diseases related to disorders of intracellular cobalamin metabolism

Symptoms for Disorders of Intracellular Cobalamin Metabolism

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Drugs & Therapeutics for Disorders of Intracellular Cobalamin Metabolism

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Drug clinical trials:

Search ClinicalTrials for Disorders of Intracellular Cobalamin Metabolism

Search NIH Clinical Center for Disorders of Intracellular Cobalamin Metabolism

Genetic Tests for Disorders of Intracellular Cobalamin Metabolism

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Genetic tests related to Disorders of Intracellular Cobalamin Metabolism:

id Genetic test Affiliating Genes
1 Disorders of Intracellular Cobalamin Metabolism20 MTRR

Anatomical Context for Disorders of Intracellular Cobalamin Metabolism

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Animal Models for Disorders of Intracellular Cobalamin Metabolism or affiliated genes

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Publications for Disorders of Intracellular Cobalamin Metabolism

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Articles related to Disorders of Intracellular Cobalamin Metabolism:

idTitleAuthorsYear
1
Disorders of Intracellular Cobalamin Metabolism (20301503)
1993

Variations for Disorders of Intracellular Cobalamin Metabolism

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Expression for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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Search GEO for disease gene expression data for Disorders of Intracellular Cobalamin Metabolism.

Pathways for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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Pathways related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism58
9.5MTR, MTRR
2
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.5MTR, MTRR
3
Show member pathways
9.5MTRR, MTR
49.2MMACHC, LMBRD1
5
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
7.6MTR, MTRR, MMACHC, MMADHC, LMBRD1
67.6LMBRD1, MMADHC, MMACHC, MTRR, MTR
7
Show member pathways
7.6LMBRD1, MMADHC, MMACHC, MTRR, MTR

Compounds for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 49PharmGKB
See all sources

Compounds related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

(show all 23)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin43 2410.9MTR, MTRR
2Cob(I)alamin249.9MTR, MTRR
3b vitamins439.9MTR, MTRR
4methylcobalamin43 2410.8MTR, MTRR
55-methyltetrahydrofolate43 1210.8MTRR, MTR
6tetrahydrofolate439.8MTR, MTRR
7L-Methionine24 1210.8MTRR, MTR
8betaine43 2410.8MTRR, MTR
9cystathionine439.8MTR, MTRR
10methylmalonic acid43 2410.8MTR, MTRR
11flavin439.7MTRR, MTR
12isoleucine439.7MTR, MTRR
13cobalt43 2410.7MTR, MMACHC
14s-adenosylhomocysteine43 2410.7MTRR, MTR
15thymidylate439.6MTR, MTRR
16homocysteine43 2410.5MTR, MTRR
17folate439.5MTR, MTRR
18s-adenosylmethionine43 24 1211.4MTRR, MTR
19hydroxocobalamin43 1210.4MTR, MTRR, MMACHC
20cyanocobalamin49 24 1211.4MTR, MTRR, MMACHC
21cobalamin43 2410.4MMACHC, MTRR, MTR
22vitamin b12439.4MMACHC, MTRR, MTR
23FAD249.2MTR, MTRR

GO Terms for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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Cellular components related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.5MTR, MTRR, MMACHC, MMADHC

Biological processes related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1methylationGO:00322599.5MTRR, MTR
2cellular nitrogen compound metabolic processGO:00346419.5MTR, MTRR
3sulfur amino acid metabolic processGO:00000969.4MTR, MTRR
4xenobiotic metabolic processGO:00068059.2MTR, MTRR
5water-soluble vitamin metabolic processGO:00067677.8LMBRD1, MMADHC, MMACHC, MTRR, MTR
6vitamin metabolic processGO:00067667.8LMBRD1, MMADHC, MMACHC, MTRR, MTR
7small molecule metabolic processGO:00442817.7MTR, MTRR, MMACHC, MMADHC, LMBRD1
8cobalamin metabolic processGO:00092357.3MTR, MTRR, MMACHC, MMADHC, LMBRD1, ABCD4

Molecular functions related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:00314198.7MTR, MMACHC, LMBRD1

Products for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Disorders of Intracellular Cobalamin Metabolism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet