MCID: DSR002
MIFTS: 24

Disorders of Intracellular Cobalamin Metabolism malady

Genetic diseases (common), Metabolic diseases categories
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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

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:



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/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1homocysteinemia10.3MTR
2neural tube defects, folate-sensitive10.0MTR, MTRR
3megaloblastic anemia10.0MTR, MTRR
4neural tube defects10.0MTR, MTRR
5spina bifida10.0MTR, MTRR
6cleft lip10.0MTRR, MTR
7vascular disease10.0MTR, MTRR
8hyperhomocysteinemia9.9MTR, MTRR
9methylmalonic acidemia9.9MTR, MMACHC, MMADHC
10down syndrome9.8MTR, MTRR
11homocystinuria9.7MTR, MMADHC, MMACHC, MTRR

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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Expression patterns in normal tissues for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism60
9.5MTR, MTRR
2
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.5MTR, MTRR
3
Show member pathways
9.5MTRR, MTR
49.2LMBRD1, MMACHC
5
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
7.6MTR, MTRR, MMACHC, MMADHC, LMBRD1
67.6MTRR, MMACHC, MMADHC, LMBRD1, MTR
7
Show member pathways
7.6MTR, LMBRD1, MMADHC, MMACHC, MTRR

Compounds for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
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Compounds related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin44 2410.9MTR, MTRR
2Cob(I)alamin249.9MTR, MTRR
3b vitamins449.9MTR, MTRR
4methylcobalamin44 2410.8MTR, MTRR
55-methyltetrahydrofolate44 1110.8MTRR, MTR
6tetrahydrofolate449.8MTR, MTRR
7L-Methionine24 1110.8MTRR, MTR
8betaine44 2410.8MTRR, MTR
9cystathionine449.8MTR, MTRR
10methylmalonic acid44 2410.8MTR, MTRR
11flavin449.7MTRR, MTR
12isoleucine449.7MTR, MTRR
13cobalt44 2410.7MTR, MMACHC
14s-adenosylhomocysteine44 2410.7MTRR, MTR
15thymidylate449.6MTR, MTRR
16homocysteine44 2410.5MTR, MTRR
17folate449.5MTR, MTRR
18s-adenosylmethionine44 24 1111.4MTRR, MTR
19hydroxocobalamin44 1110.4MTR, MTRR, MMACHC
20cyanocobalamin50 24 1111.4MTR, MTRR, MMACHC
21cobalamin44 2410.4MMACHC, MTRR, MTR
22vitamin b12449.4MMACHC, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.5MTR, MTRR, MMACHC, MMADHC

Biological processes related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1methylationGO:0322599.5MTRR, MTR
2cellular nitrogen compound metabolic processGO:0346419.5MTR, MTRR
3sulfur amino acid metabolic processGO:0000969.4MTR, MTRR
4xenobiotic metabolic processGO:0068059.2MTR, MTRR
5water-soluble vitamin metabolic processGO:0067677.8LMBRD1, MMADHC, MMACHC, MTRR, MTR
6vitamin metabolic processGO:0067667.8LMBRD1, MMADHC, MMACHC, MTRR, MTR
7small molecule metabolic processGO:0442817.7MTR, MTRR, MMACHC, MMADHC, LMBRD1
8cobalamin metabolic processGO:0092357.3MTR, MTRR, MMACHC, MMADHC, LMBRD1, ABCD4

Molecular functions related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:0314198.7MTR, MMACHC, LMBRD1

Products for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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  • Antibodies
  • Proteins
  • Lysates

Sources for Disorders of Intracellular Cobalamin Metabolism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet