MCID: DSR002
MIFTS: 22

Disorders of Intracellular Cobalamin Metabolism malady

Genetic diseases (common) category

Summaries for Disorders of Intracellular Cobalamin Metabolism

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20GeneReviews, 34MalaCards
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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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20GeneReviews, 21GeneTests
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Classifications:

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


Aliases & Descriptions:

disorders of intracellular cobalamin metabolism 20 21


Related Diseases for Disorders of Intracellular Cobalamin Metabolism

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Disorders of Intracellular Cobalamin Metabolism

Drug clinical trials:

Search ClinicalTrials for Disorders of Intracellular Cobalamin Metabolism

Search NIH Clinical Center for Disorders of Intracellular Cobalamin Metabolism

Search CenterWatch for Disorders of Intracellular Cobalamin Metabolism

Genetic Tests for Disorders of Intracellular Cobalamin Metabolism

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21GeneTests
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Genetic tests related to Disorders of Intracellular Cobalamin Metabolism:

id Genetic test Affiliating Genes
1 Disorders of Intracellular Cobalamin Metabolism21 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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53PubMed
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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, 16Gene 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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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson Reuters, 56Reactome
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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 Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
9.5MTR, MTRR
2
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.5MTR, MTRR
3
Show member pathways
9.5MTRR, MTR
49.2MMACHC, LMBRD1
5
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
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:
46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB
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Compounds related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin46 2510.9MTR, MTRR
2Cob(I)alamin259.9MTR, MTRR
3b vitamins469.9MTR, MTRR
4methylcobalamin46 2510.8MTR, MTRR
55-methyltetrahydrofolate46 1210.8MTRR, MTR
6tetrahydrofolate469.8MTR, MTRR
7L-Methionine25 1210.8MTRR, MTR
8betaine46 2510.8MTRR, MTR
9cystathionine469.8MTR, MTRR
10methylmalonic acid46 2510.8MTR, MTRR
11flavin469.7MTRR, MTR
12isoleucine469.7MTR, MTRR
13cobalt46 2510.7MTR, MMACHC
14s-adenosylhomocysteine46 2510.7MTRR, MTR
15thymidylate469.6MTR, MTRR
16homocysteine46 2510.5MTR, MTRR
17folate469.5MTR, MTRR
18s-adenosylmethionine46 25 1211.4MTRR, MTR
19hydroxocobalamin46 1210.4MTR, MTRR, MMACHC
20cyanocobalamin52 25 1211.4MTR, MTRR, MMACHC
21cobalamin46 2510.4MMACHC, MTRR, MTR
22vitamin b12469.4MMACHC, MTRR, MTR
23FAD259.2MTR, MTRR

GO Terms for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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Sources:
17Gene 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
  • Lysates
  • Antibodies

Sources for Disorders of Intracellular Cobalamin Metabolism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet