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 23 47 24 26

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 MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria), and among its related pathways are Vitamin digestion and absorption and Sulfur amino acid metabolism.

GeneReviews 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 Metabolism26 24 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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Clinvar genetic disease variations for Disorders of Intracellular Cobalamin Metabolism:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MMACHCNM_015506.2(MMACHC): c.271dupA (p.Arg91Lysfs)duplication, CompoundHeterozygotePathogenicrs398124292GRCh38Chr 1, 45507545: 45507545

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
19.5LMBRD1, MMACHC
2
Show member pathways
9.5MTR, MTRR
3
Show member pathways
9.5MTR, MTRR
4
Show member pathways
9.5MTR, MTRR
5
Show member pathways
8.3MMACHC, MMADHC, MTR, MTRR
6
Show member pathways
7.1ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
7
Show member pathways
7.1ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
87.1ABCD4, 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:00090869.9MTR, MTRR
2sulfur amino acid metabolic processGO:00000969.8MTR, MTRR
3methylationGO:00322599.5MTR, MTRR
4cobalamin metabolic processGO:00092357.3ABCD4, 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:00314199.0LMBRD1, MMACHC, MTR

Sources for Disorders of Intracellular Cobalamin Metabolism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet