ABAT
MCID: GBM001
MIFTS: 23

Gaba Aminotransferase Deficiency (ABAT)

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Gaba Aminotransferase Deficiency

MalaCards integrated aliases for Gaba Aminotransferase Deficiency:

Name: Gaba Aminotransferase Deficiency 12 15
Gamma-Aminobutyric Acid Transaminase Deficiency 12 29 6 40
Gamma Aminobutyric Acid Transaminase Deficiency 53 73
Gamma-Amino Butyric Acid Transaminase Deficiency 12
4 Alpha Aminobutyrate Transaminase Deficiency 53
Gamma Aminobutyrate Transaminase Deficiency 53
Gaba Transaminase Deficiency 53
Gabat 53
Abat 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0060174
UMLS 73 C0342708

Summaries for Gaba Aminotransferase Deficiency

NIH Rare Diseases : 53 GABA (gamma-aminobutyric acid) is an important molecule which slows down the activity of cells in the brain. GABA is broken down in the body by a substance known as 4-aminobutyrate aminotransferase, also known as GABA-transaminase or GABA-T. Mutations in the ABAT gene can cause less GABA-T to be made, a condition known as GABA-T deficiency. The symptoms for an individual with GABA-T deficiency can include: psychomotor retardation (a slowing down of thought and activity), low muscle tone, hyperactive responses, lethargy, seizures, and EEG abnormalities. GABA-T deficiency is very rare, with fewer than 5 cases reported in the literature. It is thought to be inherited in an autosomal recessive manner.

MalaCards based summary : Gaba Aminotransferase Deficiency, also known as gamma-aminobutyric acid transaminase deficiency, is related to gaba-transaminase deficiency and epilepsy, and has symptoms including lethargy An important gene associated with Gaba Aminotransferase Deficiency is ABAT (4-Aminobutyrate Aminotransferase). Affiliated tissues include brain, kidney and bone.

Disease Ontology : 12 A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.

Related Diseases for Gaba Aminotransferase Deficiency

Diseases related to Gaba Aminotransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 gaba-transaminase deficiency 12.0
2 epilepsy 11.3
3 succinic semialdehyde dehydrogenase deficiency 11.2
4 west syndrome 11.2
5 panic disorder 11.2
6 homocarnosinosis 11.1
7 epilepsy, idiopathic generalized 11.1
8 glycine encephalopathy 11.1
9 gamma-amino butyric acid metabolism disorder 11.1
10 actinic prurigo 11.0
11 geniospasm 1 11.0
12 crisponi/cold-induced sweating syndrome 1 11.0
13 crisponi/cold-induced sweating syndrome 2 11.0
14 cyanosis, transient neonatal 11.0
15 polycystic kidney disease 10.2
16 diabetic neuropathy 10.0
17 gallbladder cancer 10.0
18 neuropathy 10.0
19 alzheimer disease 9.9
20 bladder cancer 9.9
21 glioma susceptibility 1 9.9
22 hypochondroplasia 9.9
23 carney complex, type 1 9.9
24 prostate cancer 9.9
25 pruritic urticarial papules and plaques of pregnancy 9.9
26 autism 9.9
27 caronte 9.9
28 west nile virus 9.9
29 diabetes mellitus 9.9
30 leber congenital amaurosis 9.9
31 liver cirrhosis 9.9
32 renal fibrosis 9.9
33 withdrawal disorder 9.9
34 bone resorption disease 9.9
35 bacterial infectious disease 9.9
36 crimean-congo hemorrhagic fever 9.9
37 tarsal tunnel syndrome 9.9
38 hepatic coma 9.9
39 hepatic encephalopathy 9.9
40 amenorrhea 9.9
41 epicondylitis 9.9
42 urticaria 9.9
43 dyspepsia 9.9
44 glioblastoma multiforme 9.9
45 echolalia 9.9
46 kidney disease 9.9
47 sezary's disease 9.9
48 psoriasis 9.9
49 glioblastoma 9.9
50 hemorrhagic fever 9.9

Graphical network of the top 20 diseases related to Gaba Aminotransferase Deficiency:



Diseases related to Gaba Aminotransferase Deficiency

Symptoms & Phenotypes for Gaba Aminotransferase Deficiency

UMLS symptoms related to Gaba Aminotransferase Deficiency:


lethargy

Drugs & Therapeutics for Gaba Aminotransferase Deficiency

Search Clinical Trials , NIH Clinical Center for Gaba Aminotransferase Deficiency

Genetic Tests for Gaba Aminotransferase Deficiency

Genetic tests related to Gaba Aminotransferase Deficiency:

# Genetic test Affiliating Genes
1 Gamma-Aminobutyric Acid Transaminase Deficiency 29 ABAT

Anatomical Context for Gaba Aminotransferase Deficiency

MalaCards organs/tissues related to Gaba Aminotransferase Deficiency:

41
Brain, Kidney, Bone, Breast, Prostate

Publications for Gaba Aminotransferase Deficiency

Articles related to Gaba Aminotransferase Deficiency:

# Title Authors Year
1
γ-Aminobutyric acid transaminase deficiency impairs central carbon metabolism and leads to cell wall defects during salt stress in Arabidopsis roots. ( 23148892 )
2013
2
Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. ( 6148708 )
1984

Variations for Gaba Aminotransferase Deficiency

Expression for Gaba Aminotransferase Deficiency

Search GEO for disease gene expression data for Gaba Aminotransferase Deficiency.

Pathways for Gaba Aminotransferase Deficiency

GO Terms for Gaba Aminotransferase Deficiency

Sources for Gaba Aminotransferase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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