MCID: DSR002
MIFTS: 21

Disorders of Intracellular Cobalamin Metabolism malady

Metabolic diseases category

Summaries for Disorders of Intracellular Cobalamin Metabolism

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19GeneReviews, 32MalaCards
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MalaCards: Disorders of Intracellular Cobalamin Metabolism is related to homocysteinemia and deficiency anemia. An important gene associated with Disorders of Intracellular Cobalamin Metabolism is MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase), and among its related pathways are Vitamin digestion and absorption and Cysteine and methionine metabolism. The compounds cob(ii)alamin and methylcobalamin 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: Metabolic diseases


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:

idRelated DiseaseScoreTop Affiliating Genes
1homocysteinemia10.0MTR
2deficiency anemia10.0MTR
3neural tube defects10.0MTR, MTRR
4neural tube defects, folate-sensitive10.0MTR, MTRR
5methylmalonic acidemia10.0MTR, MMADHC, MMACHC
6megaloblastic anemia10.0MTRR, MTR
7homocystinuria10.0MMACHC, MMADHC, MTR, MTRR

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



Diseases related to disorders of intracellular cobalamin metabolism

Clinical Features for Disorders of Intracellular Cobalamin Metabolism

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Drugs & Therapeutics for Disorders of Intracellular Cobalamin Metabolism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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50PubMed
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Articles related to Disorders of Intracellular Cobalamin Metabolism:

idTitleAuthorsYear
1
Disorders of Intracellular Cobalamin Metabolism (20301503)
1993

Genetic 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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Sources:
1BioGPS, 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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Sources:
29KEGG, 53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 49PharmGKB
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Compounds for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB
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Compounds related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin44 2410.6MTRR, MTR
2methylcobalamin44 2410.5MTR, MTRR
3b vitamins449.5MTR, MTRR
45-methyltetrahydrofolate44 1110.5MTRR, MTR
5tetrahydrofolate449.5MTR, MTRR
6L-Methionine11 2410.5MTRR, MTR
7betaine44 2410.4MTRR, MTR
8cystathionine449.4MTR, MTRR
9methylmalonic acid44 2410.3MTRR, MTR
10flavin449.3MTR, MTRR
11s-adenosylhomocysteine44 2410.3MTR, MTRR
12hydroxocobalamin44 1110.2MMACHC, MTRR, MTR
13cyanocobalamin49 11 2411.2MTRR, MTR, MMACHC
14cobalamin44 2410.2MMACHC, MTR, MTRR
15cobalt44 2410.1MMACHC, MTR
16vitamin b12449.1MMACHC, MTR, MTRR
17isoleucine449.0MTR, MTRR

GO Terms for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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Sources:
16Gene Ontology
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Biological processes related to Disorders of Intracellular Cobalamin Metabolism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sulfur amino acid metabolic processGO:0000969.3MTR, MTRR
2methylationGO:0322599.0MTR, MTRR
3water-soluble vitamin metabolic processGO:0067678.0MTRR, MTR, MMADHC, MMACHC, LMBRD1
4vitamin metabolic processGO:0067667.9MTRR, MTR, MMADHC, MMACHC, LMBRD1
5small molecule metabolic processGO:0442817.8MTRR, MTR, MMADHC, MMACHC, LMBRD1
6cobalamin metabolic processGO:0092357.4LMBRD1, ABCD4, MMACHC, MMADHC, MTR, MTRR

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

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

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet