MCID: DSR002
MIFTS: 19

Disorders of Intracellular Cobalamin Metabolism malady

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Disorders of Intracellular Cobalamin Metabolism

Aliases & Descriptions for Disorders of Intracellular Cobalamin Metabolism:

Name: Disorders of Intracellular Cobalamin Metabolism 23 50 24 29

Classifications:



Summaries for Disorders of Intracellular Cobalamin Metabolism

MalaCards based summary : Disorders of Intracellular Cobalamin Metabolism is related to x-linked disease and autosomal dominant disease. An important gene associated with Disorders of Intracellular Cobalamin Metabolism is MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors.

GeneReviews: NBK1328

Related Diseases for Disorders of Intracellular Cobalamin Metabolism

Graphical network of the top 20 diseases related to Disorders of Intracellular Cobalamin Metabolism:



Diseases related to Disorders of Intracellular Cobalamin Metabolism

Symptoms & Phenotypes for Disorders of Intracellular Cobalamin Metabolism

Drugs & Therapeutics for Disorders of Intracellular Cobalamin Metabolism

Search Clinical Trials , NIH Clinical Center for Disorders of Intracellular Cobalamin Metabolism

Genetic Tests for Disorders of Intracellular Cobalamin Metabolism

Genetic tests related to Disorders of Intracellular Cobalamin Metabolism:

id Genetic test Affiliating Genes
1 Disorders of Intracellular Cobalamin Metabolism 29 24 MTRR

Anatomical Context for Disorders of Intracellular Cobalamin Metabolism

Publications for Disorders of Intracellular Cobalamin Metabolism

Articles related to Disorders of Intracellular Cobalamin Metabolism:

id Title Authors Year
1
Disorders of Intracellular Cobalamin Metabolism ( 20301503 )
1993

Variations for Disorders of Intracellular Cobalamin Metabolism

ClinVar genetic disease variations for Disorders of Intracellular Cobalamin Metabolism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MMACHC NM_015506.2(MMACHC): c.440G> C (p.Gly147Ala) single nucleotide variant Pathogenic/Likely pathogenic rs140522266 GRCh38 Chromosome 1, 45508806: 45508806

Expression for Disorders of Intracellular Cobalamin Metabolism

Search GEO for disease gene expression data for Disorders of Intracellular Cobalamin Metabolism.

Pathways for Disorders of Intracellular Cobalamin Metabolism

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
2
Show member pathways
12.04 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
3
Show member pathways
11.58 MTR MTRR
4
Show member pathways
11.49 MTR MTRR
5
Show member pathways
11.44 MMACHC MMADHC MTR MTRR
6 10.7 LMBRD1 MMACHC
7 10.44 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
8
Show member pathways
10.03 MTR MTRR

GO Terms for Disorders of Intracellular Cobalamin Metabolism

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

id Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.26 MTR MTRR
2 methionine biosynthetic process GO:0009086 9.16 MTR MTRR
3 cobalamin metabolic process GO:0009235 9.1 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
4 sulfur amino acid metabolic process GO:0000096 8.96 MTR MTRR

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

id Name GO ID Score Top Affiliating Genes
1 FAD binding GO:0071949 8.96 MMACHC MTRR
2 cobalamin binding GO:0031419 8.8 LMBRD1 MMACHC MTR

Sources for Disorders of Intracellular Cobalamin Metabolism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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