MCID: GBM001
MIFTS: 16

Gaba Aminotransferase Deficiency

Categories: Rare diseases, Metabolic 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 alzheimer disease, and has symptoms including lethargy An important gene associated with Gaba Aminotransferase Deficiency is ABAT (4-Aminobutyrate Aminotransferase). Affiliated tissues include brain.

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:

# Related Disease Score Top Affiliating Genes
1 gaba-transaminase deficiency 11.8
2 alzheimer disease 10.0

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

Publications for Gaba Aminotransferase Deficiency

Articles related to Gaba Aminotransferase Deficiency:

# Title Authors Year
1
Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. ( 6148708 )
1984

Variations for Gaba Aminotransferase Deficiency

ClinVar genetic disease variations for Gaba Aminotransferase Deficiency:

6
(show top 50) (show all 273)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABAT NM_000663.4(ABAT): c.659G> A (p.Arg220Lys) single nucleotide variant Pathogenic rs121434578 GRCh37 Chromosome 16, 8862105: 8862105
2 ABAT NM_000663.4(ABAT): c.659G> A (p.Arg220Lys) single nucleotide variant Pathogenic rs121434578 GRCh38 Chromosome 16, 8768248: 8768248
3 ABAT ABAT, 3-PRIME DELETION deletion Pathogenic
4 ABAT NM_000663.4(ABAT): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs724159992 GRCh38 Chromosome 16, 8750498: 8750498
5 ABAT NM_000663.4(ABAT): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs724159992 GRCh37 Chromosome 16, 8844355: 8844355
6 ABAT NM_000663.4(ABAT): c.631C> T (p.Leu211Phe) single nucleotide variant Pathogenic rs724159990 GRCh38 Chromosome 16, 8768220: 8768220
7 ABAT NM_000663.4(ABAT): c.631C> T (p.Leu211Phe) single nucleotide variant Pathogenic rs724159990 GRCh37 Chromosome 16, 8862077: 8862077
8 ABAT NM_000663.4(ABAT): c.1433T> C (p.Leu478Pro) single nucleotide variant Pathogenic rs724159991 GRCh38 Chromosome 16, 8781360: 8781360
9 ABAT NM_000663.4(ABAT): c.1433T> C (p.Leu478Pro) single nucleotide variant Pathogenic rs724159991 GRCh37 Chromosome 16, 8875217: 8875217
10 ABAT NM_000663.4(ABAT): c.199-?_316+?del deletion Pathogenic
11 ABAT NM_020686.5(ABAT): c.684G> A (p.Thr228=) single nucleotide variant Benign rs148143485 GRCh37 Chromosome 16, 8862698: 8862698
12 ABAT NM_020686.5(ABAT): c.684G> A (p.Thr228=) single nucleotide variant Benign rs148143485 GRCh38 Chromosome 16, 8768841: 8768841
13 ABAT NM_020686.5(ABAT): c.816+7C> A single nucleotide variant Benign/Likely benign rs376046736 GRCh37 Chromosome 16, 8862837: 8862837
14 ABAT NM_020686.5(ABAT): c.816+7C> A single nucleotide variant Benign/Likely benign rs376046736 GRCh38 Chromosome 16, 8768980: 8768980
15 ABAT NM_020686.5(ABAT): c.603+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312254 GRCh37 Chromosome 16, 8860130: 8860130
16 ABAT NM_020686.5(ABAT): c.603+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312254 GRCh38 Chromosome 16, 8766273: 8766273
17 ABAT NM_020686.5(ABAT): c.55C> T (p.Arg19Cys) single nucleotide variant Benign/Likely benign rs77696190 GRCh37 Chromosome 16, 8829651: 8829651
18 ABAT NM_020686.5(ABAT): c.55C> T (p.Arg19Cys) single nucleotide variant Benign/Likely benign rs77696190 GRCh38 Chromosome 16, 8735794: 8735794
19 ABAT NM_020686.5(ABAT): c.446C> T (p.Ser149Leu) single nucleotide variant Uncertain significance rs374113959 GRCh37 Chromosome 16, 8858005: 8858005
20 ABAT NM_020686.5(ABAT): c.446C> T (p.Ser149Leu) single nucleotide variant Uncertain significance rs374113959 GRCh38 Chromosome 16, 8764148: 8764148
21 ABAT NM_020686.5(ABAT): c.30G> A (p.Leu10=) single nucleotide variant Conflicting interpretations of pathogenicity rs34813662 GRCh37 Chromosome 16, 8829626: 8829626
22 ABAT NM_020686.5(ABAT): c.30G> A (p.Leu10=) single nucleotide variant Conflicting interpretations of pathogenicity rs34813662 GRCh38 Chromosome 16, 8735769: 8735769
23 ABAT NM_020686.5(ABAT): c.641T> C (p.Met214Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149271402 GRCh37 Chromosome 16, 8862087: 8862087
24 ABAT NM_020686.5(ABAT): c.641T> C (p.Met214Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149271402 GRCh38 Chromosome 16, 8768230: 8768230
25 ABAT NM_020686.5(ABAT): c.-52G> T single nucleotide variant Uncertain significance rs532269694 GRCh38 Chromosome 16, 8674701: 8674701
26 ABAT NM_020686.5(ABAT): c.-52G> T single nucleotide variant Uncertain significance rs532269694 GRCh37 Chromosome 16, 8768558: 8768558
27 ABAT NM_020686.5(ABAT): c.129G> A (p.Gly43=) single nucleotide variant Benign/Likely benign rs2228081 GRCh38 Chromosome 16, 8746059: 8746059
28 ABAT NM_020686.5(ABAT): c.129G> A (p.Gly43=) single nucleotide variant Benign/Likely benign rs2228081 GRCh37 Chromosome 16, 8839916: 8839916
29 ABAT NM_020686.5(ABAT): c.168+12A> G single nucleotide variant Likely benign rs75151311 GRCh38 Chromosome 16, 8746110: 8746110
30 ABAT NM_020686.5(ABAT): c.168+12A> G single nucleotide variant Likely benign rs75151311 GRCh37 Chromosome 16, 8839967: 8839967
31 ABAT NM_020686.5(ABAT): c.540+34_540+35dupCA duplication Benign rs35745596 GRCh37 Chromosome 16, 8858721: 8858722
32 ABAT NM_020686.5(ABAT): c.540+34_540+35dupCA duplication Benign rs35745596 GRCh38 Chromosome 16, 8764864: 8764865
33 ABAT NM_020686.5(ABAT): c.667+7_667+8dupAG duplication Uncertain significance rs886052430 GRCh38 Chromosome 16, 8768263: 8768264
34 ABAT NM_020686.5(ABAT): c.667+7_667+8dupAG duplication Uncertain significance rs886052430 GRCh37 Chromosome 16, 8862120: 8862121
35 ABAT NM_020686.5(ABAT): c.984C> A (p.Val328=) single nucleotide variant Benign rs1641022 GRCh38 Chromosome 16, 8774919: 8774919
36 ABAT NM_020686.5(ABAT): c.984C> A (p.Val328=) single nucleotide variant Benign rs1641022 GRCh37 Chromosome 16, 8868776: 8868776
37 ABAT NM_020686.5(ABAT): c.1270G> A (p.Ala424Thr) single nucleotide variant Uncertain significance rs886052432 GRCh38 Chromosome 16, 8779479: 8779479
38 ABAT NM_020686.5(ABAT): c.1270G> A (p.Ala424Thr) single nucleotide variant Uncertain significance rs886052432 GRCh37 Chromosome 16, 8873336: 8873336
39 ABAT NM_020686.5(ABAT): c.*244C> A single nucleotide variant Likely benign rs2270289 GRCh38 Chromosome 16, 8781674: 8781674
40 ABAT NM_020686.5(ABAT): c.*244C> A single nucleotide variant Likely benign rs2270289 GRCh37 Chromosome 16, 8875531: 8875531
41 ABAT NM_020686.5(ABAT): c.*318T> C single nucleotide variant Likely benign rs78352097 GRCh38 Chromosome 16, 8781748: 8781748
42 ABAT NM_020686.5(ABAT): c.*318T> C single nucleotide variant Likely benign rs78352097 GRCh37 Chromosome 16, 8875605: 8875605
43 ABAT NM_020686.5(ABAT): c.*476T> C single nucleotide variant Benign rs1731071 GRCh38 Chromosome 16, 8781906: 8781906
44 ABAT NM_020686.5(ABAT): c.*476T> C single nucleotide variant Benign rs1731071 GRCh37 Chromosome 16, 8875763: 8875763
45 ABAT NM_020686.5(ABAT): c.*915C> G single nucleotide variant Benign rs3743801 GRCh38 Chromosome 16, 8782345: 8782345
46 ABAT NM_020686.5(ABAT): c.*915C> G single nucleotide variant Benign rs3743801 GRCh37 Chromosome 16, 8876202: 8876202
47 ABAT NM_020686.5(ABAT): c.*990G> C single nucleotide variant Benign rs4985000 GRCh38 Chromosome 16, 8782420: 8782420
48 ABAT NM_020686.5(ABAT): c.*990G> C single nucleotide variant Benign rs4985000 GRCh37 Chromosome 16, 8876277: 8876277
49 ABAT NM_020686.5(ABAT): c.*1333A> G single nucleotide variant Likely benign rs17566580 GRCh37 Chromosome 16, 8876620: 8876620
50 ABAT NM_020686.5(ABAT): c.*1333A> G single nucleotide variant Likely benign rs17566580 GRCh38 Chromosome 16, 8782763: 8782763

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

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