MCID: GMM004
MIFTS: 18

Gamma-Amino Butyric Acid Metabolism Disorder

Categories: Metabolic diseases

Aliases & Classifications for Gamma-Amino Butyric Acid Metabolism Disorder

MalaCards integrated aliases for Gamma-Amino Butyric Acid Metabolism Disorder:

Name: Gamma-Amino Butyric Acid Metabolism Disorder 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060176

Summaries for Gamma-Amino Butyric Acid Metabolism Disorder

Disease Ontology : 12 An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.

MalaCards based summary : Gamma-Amino Butyric Acid Metabolism Disorder is related to homocarnosinosis and succinic semialdehyde dehydrogenase deficiency. An important gene associated with Gamma-Amino Butyric Acid Metabolism Disorder is ALDH5A1 (Aldehyde Dehydrogenase 5 Family Member A1), and among its related pathways/superpathways are Metabolism and Neurotransmitter Release Cycle.

Related Diseases for Gamma-Amino Butyric Acid Metabolism Disorder

Diseases related to Gamma-Amino Butyric Acid Metabolism Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 homocarnosinosis 32.1 ABAT CNDP1
2 succinic semialdehyde dehydrogenase deficiency 26.5 ABAT AKR7A2 ALDH1B1 ALDH3A2 ALDH4A1 ALDH5A1
3 gaba aminotransferase deficiency 11.4
4 gaba-transaminase deficiency 10.0 ABAT ALDH5A1
5 spastic cerebral palsy 9.0 ALDH3A2 GAD1

Graphical network of the top 20 diseases related to Gamma-Amino Butyric Acid Metabolism Disorder:



Diseases related to Gamma-Amino Butyric Acid Metabolism Disorder

Symptoms & Phenotypes for Gamma-Amino Butyric Acid Metabolism Disorder

Drugs & Therapeutics for Gamma-Amino Butyric Acid Metabolism Disorder

Search Clinical Trials , NIH Clinical Center for Gamma-Amino Butyric Acid Metabolism Disorder

Genetic Tests for Gamma-Amino Butyric Acid Metabolism Disorder

Anatomical Context for Gamma-Amino Butyric Acid Metabolism Disorder

Publications for Gamma-Amino Butyric Acid Metabolism Disorder

Variations for Gamma-Amino Butyric Acid Metabolism Disorder

Expression for Gamma-Amino Butyric Acid Metabolism Disorder

Search GEO for disease gene expression data for Gamma-Amino Butyric Acid Metabolism Disorder.

Pathways for Gamma-Amino Butyric Acid Metabolism Disorder

Pathways related to Gamma-Amino Butyric Acid Metabolism Disorder according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 ABAT AKR7A2 ALDH1B1 ALDH3A2 ALDH4A1 ALDH5A1
2
Show member pathways
11.88 ABAT ALDH5A1 GAD1
3
Show member pathways
11.69 ABAT ALDH1B1 ALDH3A2 ALDH6A1
4
Show member pathways
11.52 ALDH1B1 ALDH3A2
5 11.33 ALDH1B1 ALDH3A2
6 11.31 ALDH1B1 ALDH3A2
7
Show member pathways
11.21 ALDH1B1 ALDH3A2 ALDH4A1 CNDP1
8
Show member pathways
11.19 ABAT ALDH5A1 GAD1
9
Show member pathways
11.15 ALDH1B1 ALDH3A2
10
Show member pathways
11.11 ALDH1B1 ALDH3A2 CNDP1
11 11.02 ABAT ALDH6A1
12
Show member pathways
10.84 ABAT ALDH5A1
13 10.8 ABAT ALDH4A1 ALDH5A1 GAD1
14
Show member pathways
10.69 ABAT CNDP1 GAD1
15
Show member pathways
10.63 ABAT ALDH1B1 ALDH3A2 ALDH6A1 CNDP1 GAD1
16
Show member pathways
10.57 ABAT GAD1

GO Terms for Gamma-Amino Butyric Acid Metabolism Disorder

Cellular components related to Gamma-Amino Butyric Acid Metabolism Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.35 ABAT ALDH1B1 ALDH4A1 ALDH5A1 ALDH6A1
2 mitochondrion GO:0005739 9.23 ABAT AKR7A2 ALDH1B1 ALDH3A2 ALDH4A1 ALDH5A1

Biological processes related to Gamma-Amino Butyric Acid Metabolism Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transport chain GO:0022900 9.46 AKR7A2 ALDH4A1
2 neurotransmitter catabolic process GO:0042135 9.43 ABAT ALDH5A1
3 oxidation-reduction process GO:0055114 9.43 AKR7A2 ALDH1B1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1
4 cellular aldehyde metabolic process GO:0006081 9.4 AKR7A2 ALDH3A2
5 gamma-aminobutyric acid metabolic process GO:0009448 9.37 ABAT ALDH5A1
6 gamma-aminobutyric acid biosynthetic process GO:0009449 9.32 ABAT GAD1
7 glutamate decarboxylation to succinate GO:0006540 9.26 ALDH5A1 GAD1
8 gamma-aminobutyric acid catabolic process GO:0009450 9.16 ABAT ALDH5A1
9 metabolic process GO:0008152 9.1 ALDH1B1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1 CNDP1

Molecular functions related to Gamma-Amino Butyric Acid Metabolism Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 AKR7A2 ALDH1B1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1
2 electron transfer activity GO:0009055 9.37 AKR7A2 ALDH4A1
3 aldehyde dehydrogenase (NAD) activity GO:0004029 9.33 ALDH1B1 ALDH3A2 ALDH4A1
4 pyridoxal phosphate binding GO:0030170 9.32 ABAT GAD1
5 NAD binding GO:0051287 9.26 ALDH1B1 ALDH5A1
6 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.02 ALDH1B1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1

Sources for Gamma-Amino Butyric Acid Metabolism Disorder

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