MCID: DSR002
MIFTS: 22

Disorders of Intracellular Cobalamin Metabolism malady

Genetic diseases (common) category
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Summaries for Disorders of Intracellular Cobalamin Metabolism

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19GeneReviews, 33MalaCards
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MalaCards: 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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19GeneReviews, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

disorders of intracellular cobalamin metabolism 19 20


Related Diseases for Disorders of Intracellular Cobalamin Metabolism

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17GeneCards, 18GeneDecks
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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
1homocysteinemia10.1MTR
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
8hyperhomocysteinemia10.0MTR, MTRR
9methylmalonic acidemia10.0MTR, MMACHC, MMADHC
10down syndrome10.0MTR, MTRR
11homocystinuria9.9MTR, 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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42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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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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52PubMed
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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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 30KEGG, 38NCBI BioSystems Database, 51PharmGKB, 60Thomson Reuters, 55Reactome
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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 Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
9.5MTR, MTRR
2
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.5MTR, MTRR
3
Show member pathways
9.5MTRR, MTR
49.2MMACHC, LMBRD1
5
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
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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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin45 2410.9MTR, MTRR
2Cob(I)alamin249.9MTR, MTRR
3b vitamins459.9MTR, MTRR
4methylcobalamin45 2410.8MTR, MTRR
55-methyltetrahydrofolate45 1110.8MTRR, MTR
6tetrahydrofolate459.8MTR, MTRR
7L-Methionine24 1110.8MTRR, MTR
8betaine45 2410.8MTRR, MTR
9cystathionine459.8MTR, MTRR
10methylmalonic acid45 2410.8MTR, MTRR
11flavin459.7MTRR, MTR
12isoleucine459.7MTR, MTRR
13cobalt45 2410.7MTR, MMACHC
14s-adenosylhomocysteine45 2410.7MTRR, MTR
15thymidylate459.6MTR, MTRR
16homocysteine45 2410.5MTR, MTRR
17folate459.5MTR, MTRR
18s-adenosylmethionine45 24 1111.4MTRR, MTR
19hydroxocobalamin45 1110.4MTR, MTRR, MMACHC
20cyanocobalamin51 24 1111.4MTR, MTRR, MMACHC
21cobalamin45 2410.4MMACHC, MTRR, MTR
22vitamin b12459.4MMACHC, MTRR, MTR
23FAD249.2MTR, MTRR

GO Terms for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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16Gene Ontology
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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
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  • Antibodies

Sources for Disorders of Intracellular Cobalamin Metabolism

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet