MCID: DSR002
MIFTS: 16

Disorders of Intracellular Cobalamin Metabolism malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Disorders of Intracellular Cobalamin Metabolism

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Aliases & Descriptions for Disorders of Intracellular Cobalamin Metabolism:

Name: Disorders of Intracellular Cobalamin Metabolism 21 45 22


Classifications:



Summaries for Disorders of Intracellular Cobalamin Metabolism

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MalaCards based summary: Disorders of Intracellular Cobalamin Metabolism is related to methylmalonic aciduria and homocystinuria, cblf type and y-linked disease. 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 Defective MTR causes methylmalonic aciduria and homocystinuria type cblG.

GeneReviews summary for cbl

Related Diseases for Disorders of Intracellular Cobalamin Metabolism

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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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Interventional clinical trials:

Search ClinicalTrials, 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 Metabolism22 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
19.4LMBRD1, MMACHC
2
Show member pathways
9.2MTR, MTRR
3
Show member pathways
9.2MTR, MTRR
4
Show member pathways
9.2MTR, MTRR
5
Show member pathways
8.1MMACHC, MMADHC, MTR, MTRR
6
Show member pathways
8.1MMACHC, MMADHC, MTR, MTRR
7
Show member pathways
7.1ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
8
Show member pathways
7.1ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
97.1ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR

GO Terms for genes affiliated with Disorders of Intracellular Cobalamin Metabolism

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1methionine biosynthetic processGO:00090869.8MTR, MTRR
2sulfur amino acid metabolic processGO:00000969.7MTR, MTRR
3xenobiotic metabolic processGO:00068059.6MTR, MTRR
4methylationGO:00322599.4MTR, MTRR
5cobalamin metabolic processGO:00092357.7ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
6vitamin metabolic processGO:00067667.3ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
7water-soluble vitamin metabolic processGO:00067677.3ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
8small molecule metabolic processGO:00442817.1ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR

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

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:00314198.6LMBRD1, MMACHC, MTR

Sources for Disorders of Intracellular Cobalamin Metabolism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet