MCID: MTH003
MIFTS: 15

Methylmalonic Aciduria and Homocystinuria Type Cble

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria Type Cble

MalaCards integrated aliases for Methylmalonic Aciduria and Homocystinuria Type Cble:

Name: Methylmalonic Aciduria and Homocystinuria Type Cble 12 17

Classifications:



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Disease Ontology 12 DOID:0050732

Summaries for Methylmalonic Aciduria and Homocystinuria Type Cble

Disease Ontology : 12 A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has material basis in homozygous or compound heterozygous mutation in the MTRR on chromosome 5p15 that causes inborn error of vitamin B12 metabolism.

MalaCards based summary : Methylmalonic Aciduria and Homocystinuria Type Cble is related to methylmalonic aciduria and homocystinuria type cblg and homocystinuria. An important gene associated with Methylmalonic Aciduria and Homocystinuria Type Cble is MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism.

Related Diseases for Methylmalonic Aciduria and Homocystinuria Type Cble

Graphical network of the top 20 diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble:



Diseases related to Methylmalonic Aciduria and Homocystinuria Type Cble

Symptoms & Phenotypes for Methylmalonic Aciduria and Homocystinuria Type Cble

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria Type Cble

Search Clinical Trials , NIH Clinical Center for Methylmalonic Aciduria and Homocystinuria Type Cble

Genetic Tests for Methylmalonic Aciduria and Homocystinuria Type Cble

Anatomical Context for Methylmalonic Aciduria and Homocystinuria Type Cble

Publications for Methylmalonic Aciduria and Homocystinuria Type Cble

Variations for Methylmalonic Aciduria and Homocystinuria Type Cble

Expression for Methylmalonic Aciduria and Homocystinuria Type Cble

Search GEO for disease gene expression data for Methylmalonic Aciduria and Homocystinuria Type Cble.

Pathways for Methylmalonic Aciduria and Homocystinuria Type Cble

Pathways related to Methylmalonic Aciduria and Homocystinuria Type Cble according to GeneCards Suite gene sharing:

(showing 7, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 MTRR MTR
2
Show member pathways
11.7 MTRR MTR
3
Show member pathways
11.47 MTRR MTR
4
Show member pathways
11.35 MTRR MTR
5
Show member pathways
11.12 MTRR MTR
6 10.28 MTRR MTR
7
Show member pathways
9.23 MTRR MTR

GO Terms for Methylmalonic Aciduria and Homocystinuria Type Cble

Biological processes related to Methylmalonic Aciduria and Homocystinuria Type Cble according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.32 MTRR MTR
2 cellular amino acid biosynthetic process GO:0008652 9.26 MTRR MTR
3 cobalamin metabolic process GO:0009235 9.16 MTRR MTR
4 methionine biosynthetic process GO:0009086 8.96 MTRR MTR
5 sulfur amino acid metabolic process GO:0000096 8.62 MTRR MTR

Sources for Methylmalonic Aciduria and Homocystinuria Type Cble

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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