MCID: MTH002
MIFTS: 14

Methylmalonic Aciduria and Homocystinuria Type Cblg

Categories: Metabolic diseases

Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria Type Cblg

MalaCards integrated aliases for Methylmalonic Aciduria and Homocystinuria Type Cblg:

Name: Methylmalonic Aciduria and Homocystinuria Type Cblg 12 17

Classifications:



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Disease Ontology 12 DOID:0050733

Summaries for Methylmalonic Aciduria and Homocystinuria Type Cblg

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 MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism.

MalaCards based summary : Methylmalonic Aciduria and Homocystinuria Type Cblg is related to homocystinuria and methylmalonic aciduria and homocystinuria type cble. An important gene associated with Methylmalonic Aciduria and Homocystinuria Type Cblg 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 Cblg

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



Diseases related to Methylmalonic Aciduria and Homocystinuria Type Cblg

Symptoms & Phenotypes for Methylmalonic Aciduria and Homocystinuria Type Cblg

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria Type Cblg

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Genetic Tests for Methylmalonic Aciduria and Homocystinuria Type Cblg

Anatomical Context for Methylmalonic Aciduria and Homocystinuria Type Cblg

Publications for Methylmalonic Aciduria and Homocystinuria Type Cblg

Variations for Methylmalonic Aciduria and Homocystinuria Type Cblg

Expression for Methylmalonic Aciduria and Homocystinuria Type Cblg

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

Pathways for Methylmalonic Aciduria and Homocystinuria Type Cblg

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

# 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
11.36 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 Cblg

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

# 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 Cblg

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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