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 48 24 27

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 & Phenotypes 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 Metabolism27 24 MTRR

Anatomical Context for Disorders of Intracellular Cobalamin Metabolism

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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:000908610.1MTR, MTRR
2methylationGO:00322599.8MTR, MTRR
3sulfur amino acid metabolic processGO:00000969.5MTR, MTRR
4cobalamin metabolic processGO:00092357.7ABCD4, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet