MCID: GMM004
MIFTS: 27

Gamma-Amino Butyric Acid Metabolism Disorder

Categories: Metabolic diseases, Rare 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
Disorder of Gamma-Aminobutyric Acid Metabolism 58
Disorder of Gaba Metabolism 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060176
ICD10 via Orphanet 33 E72.8
Orphanet 58 ORPHA79175

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, also known as disorder of gamma-aminobutyric acid metabolism, is related to homocarnosinosis and succinic semialdehyde dehydrogenase deficiency. An important gene associated with Gamma-Amino Butyric Acid Metabolism Disorder is PRODH (Proline Dehydrogenase 1), and among its related pathways/superpathways are Metabolism and Transmission across Chemical Synapses. Related phenotypes are Decreased viability and Decreased viability

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:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 homocarnosinosis 32.6 CNDP1 ABAT
2 succinic semialdehyde dehydrogenase deficiency 27.8 SLC6A13 SLC6A12 SLC6A1 SERPINA3 PRODH GAD2
3 gaba aminotransferase deficiency 11.5
4 hyperprolinemia, type i 10.3 PRODH ALDH4A1
5 gaba-transaminase deficiency 10.3 ALDH5A1 ABAT
6 voyeurism 10.3 SERPINA3 PRODH
7 status epilepticus 10.2
8 hyperprolinemia, type ii 10.2 PRODH ALDH4A1 ALDH18A1
9 neu-laxova syndrome 2 10.2 GAD1 ALDH4A1 ALDH18A1
10 heparin cofactor ii deficiency 10.2 SERPINA3 PRODH
11 epilepsy 10.1
12 seizure disorder 10.1
13 amino acid metabolic disorder 10.1 SERPINA3 PRODH ALDH5A1 ALDH4A1
14 autoimmune polyendocrine syndrome, type ii 10.1 GAD2 GAD1
15 stiff-person syndrome 10.1 GAD2 GAD1 ABAT
16 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.1 GAD2 GAD1
17 substance abuse 10.1 SERPINA3 PRODH ALDH2
18 cerebellar disease 10.1 SERPINA3 PRODH GAD1
19 spastic cerebral palsy 10.0 GAD2 GAD1 ALDH3A2
20 alcohol use disorder 10.0 PRODH ALDH9A1 ALDH2
21 autosomal recessive disease 10.0
22 inherited metabolic disorder 10.0
23 movement disease 10.0 SERPINA3 PRODH GAD2 GAD1
24 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 GAD2 GAD1
25 phobia, specific 10.0 PRODH GAD1
26 anxiety 9.9 SLC6A1 PRODH GAD2 GAD1
27 mast syndrome 9.9 ALDH6A1 ALDH4A1 ALDH16A1
28 hyperekplexia 9.8 SLC6A12 SLC6A1 GAD2
29 childhood absence epilepsy 9.8 SLC6A13 SLC6A1 ALDH5A1 ABAT
30 alcohol dependence 9.7 GAD2 GAD1 ALDH9A1 ALDH2
31 disease of mental health 8.8 SLC6A13 SLC6A1 SERPINA3 PRODH GAD2 GAD1
32 hyperprolinemia 8.8 PRODH ALDH9A1 ALDH6A1 ALDH5A1 ALDH4A1 ALDH3A2

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.55 ALDH16A1 ALDH1B1 PRODH SERPINA3
2 Decreased viability GR00381-A-1 9.55 ABAT CNDP1 PRODH
3 Decreased viability GR00386-A-1 9.55 ABAT ALDH1B1 ALDH2 ALDH9A1 SLC6A12 SLC6A13
4 Decreased viability GR00402-S-2 9.55 AKR7A2 ALDH18A1 ALDH9A1 CNDP1

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

Articles related to Gamma-Amino Butyric Acid Metabolism Disorder:

# Title Authors PMID Year
1
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency. 61
32055132 2020
2
Neuropathology in succinic semialdehyde dehydrogenase deficiency. 61
20304328 2010
3
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. 61
16545979 2006
4
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. 61
6627675 1983

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 SLC6A12 PRODH GAD2 GAD1 CNDP1 ALDH9A1
2
Show member pathways
12.93 SLC6A13 SLC6A12 SLC6A1 GAD2 GAD1 ALDH5A1
3
Show member pathways
12.49 SLC6A13 SLC6A12 SLC6A1 GAD2 GAD1 ABAT
4
Show member pathways
12.35 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
5
Show member pathways
12.04 SLC6A13 SLC6A12 SLC6A1 GAD2 GAD1 ALDH5A1
6
Show member pathways
11.95 ALDH9A1 ALDH6A1 ALDH3A2 ALDH2 ALDH1B1 ABAT
7
Show member pathways
11.91 SLC6A13 SLC6A12 SLC6A1
8
Show member pathways
11.84 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
9
Show member pathways
11.7 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
10 11.64 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
11 11.6 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
12
Show member pathways
11.34 GAD2 GAD1 ALDH5A1 ABAT
13 11.33 GAD2 GAD1 ALDH5A1 ALDH4A1 ABAT
14
Show member pathways
11.32 PRODH CNDP1 ALDH9A1 ALDH4A1 ALDH3A2 ALDH2
15
Show member pathways
11.24 CNDP1 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
16 11.07 ALDH3A2 ALDH2 ALDH1B1
17
Show member pathways
10.99 SLC6A13 SLC6A12 SLC6A1
18
Show member pathways
10.97 GAD2 GAD1
19 10.89 ALDH5A1 ABAT
20 10.84 GAD2 GAD1
21
Show member pathways
10.81 GAD2 GAD1 ABAT
22
Show member pathways
10.81 GAD2 GAD1 CNDP1 ALDH9A1 ABAT
23
Show member pathways
10.79 GAD2 GAD1 CNDP1 ALDH9A1 ALDH6A1 ALDH3A2
24 10.63 GAD2 GAD1
25
Show member pathways
10.58 ALDH18A1 ABAT

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 mitochondrion GO:0005739 9.56 PRODH ALDH6A1 ALDH5A1 ALDH4A1 ALDH2 ALDH1B1
2 inhibitory synapse GO:0060077 9.26 GAD2 GAD1
3 mitochondrial matrix GO:0005759 9.17 PRODH ALDH6A1 ALDH5A1 ALDH4A1 ALDH2 ALDH1B1
4 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.16 GAD2 GAD1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transmembrane transport GO:0035725 9.77 SLC6A13 SLC6A12 SLC6A1
2 electron transport chain GO:0022900 9.73 ALDH4A1 ALDH2 AKR7A2
3 neurotransmitter transport GO:0006836 9.71 SLC6A13 SLC6A12 SLC6A1
4 carboxylic acid metabolic process GO:0019752 9.61 GAD2 GAD1
5 monocarboxylic acid transport GO:0015718 9.6 SLC6A13 SLC6A12
6 glutamate metabolic process GO:0006536 9.58 ALDH5A1 ALDH18A1
7 ethanol catabolic process GO:0006068 9.58 ALDH2 ALDH1B1
8 ethanol oxidation GO:0006069 9.57 ALDH2 ALDH1B1
9 neurotransmitter catabolic process GO:0042135 9.55 ALDH5A1 ABAT
10 proline catabolic process GO:0006562 9.52 PRODH ALDH4A1
11 gamma-aminobutyric acid import GO:0051939 9.51 SLC6A13 SLC6A1
12 4-hydroxyproline catabolic process GO:0019470 9.49 PRODH ALDH4A1
13 gamma-aminobutyric acid transport GO:0015812 9.48 SLC6A12 SLC6A1
14 proline catabolic process to glutamate GO:0010133 9.46 PRODH ALDH4A1
15 gamma-aminobutyric acid biosynthetic process GO:0009449 9.43 GAD1 ABAT
16 gamma-aminobutyric acid metabolic process GO:0009448 9.4 ALDH5A1 ABAT
17 proline metabolic process GO:0006560 9.37 PRODH ALDH4A1
18 oxidation-reduction process GO:0055114 9.36 PRODH ALDH9A1 ALDH6A1 ALDH5A1 ALDH4A1 ALDH3A2
19 neurotransmitter biosynthetic process GO:0042136 9.33 GAD2 GAD1 ALDH9A1
20 gamma-aminobutyric acid catabolic process GO:0009450 9.32 ALDH5A1 ABAT
21 glutamate decarboxylation to succinate GO:0006540 9.26 GAD2 GAD1
22 cellular aldehyde metabolic process GO:0006081 9.13 ALDH9A1 ALDH3A2 AKR7A2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.7 SLC6A13 SLC6A12 SLC6A1
2 oxidoreductase activity GO:0016491 9.7 PRODH ALDH9A1 ALDH6A1 ALDH5A1 ALDH4A1 ALDH3A2
3 electron transfer activity GO:0009055 9.65 ALDH4A1 ALDH2 AKR7A2
4 pyridoxal phosphate binding GO:0030170 9.63 GAD2 GAD1 ABAT
5 glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity GO:0043878 9.56 ALDH9A1 ALDH3A2 ALDH2 ALDH1B1
6 aldehyde dehydrogenase (NAD) activity GO:0004029 9.55 ALDH9A1 ALDH4A1 ALDH3A2 ALDH2 ALDH1B1
7 neurotransmitter binding GO:0042165 9.54 SLC6A13 SLC6A12 SLC6A1
8 monocarboxylic acid transmembrane transporter activity GO:0008028 9.51 SLC6A13 SLC6A12
9 gamma-aminobutyric acid:sodium symporter activity GO:0005332 9.5 SLC6A13 SLC6A12 SLC6A1
10 glutamate binding GO:0016595 9.49 GAD2 GAD1
11 gamma-aminobutyric acid transmembrane transporter activity GO:0015185 9.43 SLC6A13 SLC6A1
12 glutamate decarboxylase activity GO:0004351 9.4 GAD2 GAD1
13 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.28 ALDH9A1 ALDH6A1 ALDH5A1 ALDH4A1 ALDH3A2 ALDH2

Sources for Gamma-Amino Butyric Acid Metabolism Disorder

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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