MCID: DSR002
MIFTS: 19

Disorders of Intracellular Cobalamin Metabolism malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

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 22 46 23 25

Classifications:



Summaries for Disorders of Intracellular Cobalamin Metabolism

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MalaCards based summary: Disorders of Intracellular Cobalamin Metabolism is related to congenital intrinsic factor deficiency and x-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 Sulfur amino acid metabolism.

GeneReviews summary for NBK1328

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 Metabolism25 23 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 pathwaysScoreTop 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
77.1ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
8
Show member pathways
7.1ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
9
Show member pathways
7.1ABCD4, 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:

idNameGO IDScoreTop Affiliating Genes
1methionine biosynthetic processGO:00090869.8MTR, MTRR
2sulfur amino acid metabolic processGO:00000969.5MTR, MTRR
3methylationGO:00322599.2MTR, MTRR
4cobalamin metabolic processGO:00092357.0ABCD4, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet