ABAT
MCID: GBM001
MIFTS: 29

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
Gamma-Aminobutyric Acid Transaminase Deficiency 12 29 6 39
Gamma Aminobutyric Acid Transaminase Deficiency 20 71
Gamma-Amino Butyric Acid Transaminase Deficiency 12
4 Alpha Aminobutyrate Transaminase Deficiency 20
Gamma Aminobutyrate Transaminase Deficiency 20
Gaba Transaminase Deficiency 20
Gabat 20
Abat 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0060174
UMLS 71 C0342708

Summaries for Gaba Aminotransferase Deficiency

GARD : 20 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). The drugs Atezolizumab and Tacrolimus have been mentioned in the context of this disorder.

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 all 38)
# Related Disease Score Top Affiliating Genes
1 gaba-transaminase deficiency 11.8
2 epilepsy 11.2
3 autism 11.1
4 schizophrenia 11.1
5 panic disorder 11.1
6 succinic semialdehyde dehydrogenase deficiency 11.0
7 homocarnosinosis 11.0
8 epilepsy, idiopathic generalized 11.0
9 glycine encephalopathy 11.0
10 childhood absence epilepsy 11.0
11 early myoclonic encephalopathy 11.0
12 stiff-person syndrome 10.8
13 dihydropyrimidine dehydrogenase deficiency 10.8
14 developmental and epileptic encephalopathy 13 10.8
15 west syndrome 10.8
16 asperger syndrome 10.8
17 gamma-amino butyric acid metabolism disorder 10.8
18 mitochondrial dna maintenance defects 10.8
19 encephalopathy 10.3
20 phenylketonuria 10.2
21 leukodystrophy 10.2
22 hypotonia 10.2
23 autosomal recessive disease 10.2
24 alacrima, achalasia, and mental retardation syndrome 10.0
25 nutritional deficiency disease 10.0
26 alzheimer disease 10.0
27 renal cell carcinoma, nonpapillary 9.9
28 hypertriglyceridemia, familial 9.9
29 chromosome 16p11.2 deletion syndrome, 593-kb 9.9
30 myelodysplastic syndrome 9.9
31 chromosome 16p11.2 duplication syndrome 9.9
32 mitochondrial dna depletion syndrome 9.9
33 lipid metabolism disorder 9.9
34 clear cell renal cell carcinoma 9.9
35 movement disease 9.9
36 inflammatory breast carcinoma 9.9
37 inherited metabolic disorder 9.9
38 polycystic kidney disease 9.6

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

Drugs for Gaba Aminotransferase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
2
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
rituximab Approved Phase 2 174722-31-7 10201696
5
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
6
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
7 Antibiotics, Antitubercular Phase 2
8 Anti-Bacterial Agents Phase 2
9 Antifungal Agents Phase 2
10 Antineoplastic Agents, Immunological Phase 2
11 Immunosuppressive Agents Phase 2
12 Immunologic Factors Phase 2
13 Antilymphocyte Serum Phase 2
14 Anti-Infective Agents Phase 2
15 Thymoglobulin Phase 2
16 Antirheumatic Agents Phase 2
17 Calcineurin Inhibitors Phase 2
18
Gallium nitrate Approved, Investigational Phase 1 13494-90-1 61635
19 Hormones Phase 1
20 Calcium, Dietary Phase 1
21
Calcium Nutraceutical Phase 1 7440-70-2 271
22
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
23
Mupirocin Approved, Investigational, Vet_approved 12650-69-0 446596
24
Aripiprazole Approved, Investigational 129722-12-9 60795
25
Citalopram Approved 59729-33-8 2771
26
Dextromethorphan Approved 125-71-3 5360696 5362449
27
Fesoterodine Approved 286930-03-8, 286930-02-7 6918558
28
Tramadol Approved, Investigational 27203-92-5 33741
29
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
30
Doxepin Approved, Investigational 1668-19-5 667477 667468
31
Carvedilol Approved, Investigational 72956-09-3 2585
32
Esomeprazole Approved, Investigational 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
33
Piroxicam Approved, Investigational 36322-90-4 5280452 54676228
34
Meloxicam Approved, Vet_approved 71125-38-7 5281106 54677470
35
Haloperidol Approved 52-86-8 3559
36
Amitriptyline Approved 50-48-6 2160
37
Paroxetine Approved, Investigational 61869-08-7 43815
38
Pimozide Approved 2062-78-4 16362
39
Clomipramine Approved, Investigational, Vet_approved 303-49-1 2801
40
Clobazam Approved, Illicit 22316-47-8 2789
41
Phenobarbital Approved, Investigational 50-06-6 4763
42
Perphenazine Approved 58-39-9 4748
43
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
44
Codeine Approved, Illicit 76-57-3 5284371
45
Celecoxib Approved, Investigational 169590-42-5 2662
46
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
47
Risperidone Approved, Investigational 106266-06-2 5073
48
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
49
Metoprolol Approved, Investigational 51384-51-1, 37350-58-6 4171
50
Flurbiprofen Approved, Investigational 5104-49-4 3394

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Mouse Allergen and Asthma Intervention Trial Completed NCT01251224 Phase 3
2 A Phase 2 Study of CAbozantinib in Combination With AtezolizumaB as NeoAdjuvant Treatment for Muscle-Invasive BladdEr Cancer (ABATE) Recruiting NCT04289779 Phase 2 Cabozantinib;Atezolizumab
3 A Pilot Phase II Study of Sirolimus, Tacrolimus, Thymoglobulin and Rituximab as Graft-versus-Host-Disease Prophylaxis in Patients Undergoing Haploidentical and HLA Partially Matched Donor Hematopoietic Cell Transplantation Terminated NCT01116232 Phase 2 sirolimus;tacrolimus
4 IV Infusion of Autologous Adipose Derived Mesenchymal Cells for Abatement of Respiratory Compromise in SARS-CoV-2 Pandemic (COVID-19) Not yet recruiting NCT04352803 Phase 1
5 A Phase 1b, Multi-center Study of Intravenous (IV) Gallium Nitrate in Patients With Cystic Fibrosis (CF) Who Are Colonized With Nontuberculous Mycobacteria (NTM) (The ABATE Study) Not yet recruiting NCT04294043 Phase 1 Gallium nitrate
6 Will Mild vs. Moderate Physical Activity Suffice to Abate the Progression of Subclinical Atherosclerosis in Sedentary Adults? Unknown status NCT02628275
7 "A Comparison Study of the WaterWorks® Douching Device vs. Commercial OTC Douching Device for the Reduction or Abatement of Perceived Vaginal Odor With or Without Complaints of Discharge in Women With no Infectious Causes of Vaginitis" Unknown status NCT00417365
8 Comparison of Trigger Finger Orthotic Wearing Schedules: A Feasibility Study Completed NCT04094389
9 Cluster-Randomized Controlled Trial of Hospitals to Reduce Healthcare-Associated Infections and Readmissions Through Routine Bathing With Antiseptic Soap and Targeted Use of Nasal Antibiotic Ointment (ABATE Infection Trial) Completed NCT02063867 Arm 2: Decolonization
10 Active Observational Study of the Adoption and Transfer of Clinical Practice Guidelines Through Education, for Ventilator Associated Pneumonia (ABATE VAP Study) Completed NCT00434460
11 ITN0127AI Autoimmunity-blocking Antibody for Tolerance in Recently Diagnosed Type 1 Diabetes (AbATE) Follow-Up Study Completed NCT02067923
12 YouScript IMPACT (Improving Medication Protocols and Abating Cost of Treatment) Registry Completed NCT02191358
13 Implementation of a Community Intervention to Improve Asthma Self-Management Practices in Peru Completed NCT03986177
14 Identifying Effective Approaches to Counseling on Firearm Safety: A Randomized Experimental Design Among Firearm-familiar Individuals at Risk for Suicide Completed NCT03272048
15 Ablation STrategies for Repeat PrOcedures in Patients With Atrial Fibrillation Recurrences Recruiting NCT04056390
16 A Safety Pilot Clinical Trial of a Second Magnetic Resonance Guided Focused Ultrasound (MRgFUS) Thalamotomy for the Management of Medication-refractory Essential Tremor Recruiting NCT04720469
17 Radiographic Imaging Validation and EvALuation for Angio iFR (ReVEAL iFR) Recruiting NCT03857503
18 "Receptive Music Intervention for the Abatement of Anxiety for In-patients Diagnosed With Unipolar Depression Who Receive Standard ECT Treatment". (ECT: Electroconvulsive Therapy). Not yet recruiting NCT04706728
19 Exercise Induced Laryngeal Obstruction; a Randomized Controlled Treatment Trial Not yet recruiting NCT04620343

Search 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

Publications for Gaba Aminotransferase Deficiency

Articles related to Gaba Aminotransferase Deficiency:

# Title Authors PMID Year
1
Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. 61 6
6148708 1984
2
Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene. 6
27596361 2017
3
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 6
20052547 2010
4
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. 6
10407778 1999
5
[gamma-Aminobutyric acid transaminase deficiency]. 61
9590038 1998

Variations for Gaba Aminotransferase Deficiency

ClinVar genetic disease variations for Gaba Aminotransferase Deficiency:

6 (show top 50) (show all 247)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABAT NM_020686.6(ABAT):c.659G>A (p.Arg220Lys) SNV Pathogenic 16216 rs121434578 16:8862105-8862105 16:8768248-8768248
2 ABAT ABAT, 3-PRIME DELETION Deletion Pathogenic 16217
3 ABAT NM_020686.6(ABAT):c.631C>T (p.Leu211Phe) SNV Pathogenic 162034 rs724159990 16:8862077-8862077 16:8768220-8768220
4 ABAT NM_020686.6(ABAT):c.1433T>C (p.Leu478Pro) SNV Pathogenic 162035 rs724159991 16:8875217-8875217 16:8781360-8781360
5 ABAT NM_020686.6(ABAT):c.275G>A (p.Arg92Gln) SNV Pathogenic 162036 rs724159992 16:8844355-8844355 16:8750498-8750498
6 ABAT NM_000663.4(ABAT):c.199-?_316+?del Deletion Pathogenic 162037
7 ABAT NM_020686.6(ABAT):c.817-2A>G SNV Pathogenic 438386 rs1555492932 16:8866635-8866635 16:8772778-8772778
8 ABAT NM_020686.6(ABAT):c.1460T>C (p.Leu487Pro) SNV Pathogenic 438387 rs1555494322 16:8875244-8875244 16:8781387-8781387
9 ABAT NM_000663.3(ABAT):c.199-?_316+?del Deletion Pathogenic 438385
10 ABAT NM_020686.6(ABAT):c.168+1G>A SNV Pathogenic 635252 rs1567300736 16:8839956-8839956 16:8746099-8746099
11 ABAT NM_020686.6(ABAT):c.454C>T (p.Pro152Ser) SNV Pathogenic 635253 rs1567310537 16:8858601-8858601 16:8764744-8764744
12 ABAT NM_020686.6(ABAT):c.1393G>C (p.Gly465Arg) SNV Pathogenic 635254 rs781555217 16:8875177-8875177 16:8781320-8781320
13 ABAT NM_020686.6(ABAT):c.638T>G (p.Phe213Cys) SNV Pathogenic 635255 rs1567312671 16:8862084-8862084 16:8768227-8768227
14 ABAT NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp) SNV Pathogenic 389161 rs1057523345 16:8875178-8875178 16:8781321-8781321
15 ABAT NM_020686.6(ABAT):c.864C>T (p.Ala288=) SNV Conflicting interpretations of pathogenicity 321080 rs149855547 16:8866684-8866684 16:8772827-8772827
16 ABAT NM_020686.6(ABAT):c.645C>A (p.Gly215=) SNV Conflicting interpretations of pathogenicity 321077 rs1139522 16:8862091-8862091 16:8768234-8768234
17 ABAT NM_020686.6(ABAT):c.26G>A (p.Arg9His) SNV Conflicting interpretations of pathogenicity 320839 rs531783337 16:8829622-8829622 16:8735765-8735765
18 ABAT NM_020686.6(ABAT):c.667+7_667+8dup Duplication Conflicting interpretations of pathogenicity 321078 rs748783252 16:8862118-8862119 16:8768261-8768262
19 ABAT NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) SNV Conflicting interpretations of pathogenicity 235649 rs77696190 16:8829651-8829651 16:8735794-8735794
20 ABAT NM_020686.6(ABAT):c.978C>T (p.Asp326=) SNV Conflicting interpretations of pathogenicity 460331 rs201727625 16:8868770-8868770 16:8774913-8774913
21 ABAT NM_020686.6(ABAT):c.*2698C>G SNV Uncertain significance 885602 16:8877985-8877985 16:8784128-8784128
22 ABAT NM_020686.6(ABAT):c.*2712T>C SNV Uncertain significance 885603 16:8877999-8877999 16:8784142-8784142
23 ABAT NM_020686.6(ABAT):c.*959T>A SNV Uncertain significance 886489 16:8876246-8876246 16:8782389-8782389
24 ABAT NM_020686.6(ABAT):c.*1051C>T SNV Uncertain significance 886491 16:8876338-8876338 16:8782481-8782481
25 ABAT NM_020686.6(ABAT):c.*578G>A SNV Uncertain significance 885469 16:8875865-8875865 16:8782008-8782008
26 ABAT NM_020686.6(ABAT):c.*717G>A SNV Uncertain significance 885470 16:8876004-8876004 16:8782147-8782147
27 ABAT NM_020686.6(ABAT):c.168+13C>T SNV Uncertain significance 885529 16:8839968-8839968 16:8746111-8746111
28 ABAT NM_020686.6(ABAT):c.*1593T>C SNV Uncertain significance 885530 16:8876880-8876880 16:8783023-8783023
29 ABAT NM_020686.6(ABAT):c.*1602G>A SNV Uncertain significance 885531 16:8876889-8876889 16:8783032-8783032
30 ABAT NM_020686.6(ABAT):c.*1698C>G SNV Uncertain significance 885532 16:8876985-8876985 16:8783128-8783128
31 ABAT NM_020686.6(ABAT):c.*1771C>G SNV Uncertain significance 885533 16:8877058-8877058 16:8783201-8783201
32 ABAT NM_020686.6(ABAT):c.285T>C (p.Asp95=) SNV Uncertain significance 886554 16:8844365-8844365 16:8750508-8750508
33 ABAT NM_020686.6(ABAT):c.*1861C>A SNV Uncertain significance 886555 16:8877148-8877148 16:8783291-8783291
34 ABAT NM_020686.6(ABAT):c.*1862C>T SNV Uncertain significance 886556 16:8877149-8877149 16:8783292-8783292
35 ABAT NM_020686.6(ABAT):c.*2783G>A SNV Uncertain significance 886624 16:8878070-8878070 16:8784213-8784213
36 ABAT NM_020686.6(ABAT):c.387C>T (p.Pro129=) SNV Uncertain significance 887435 16:8857946-8857946 16:8764089-8764089
37 ABAT NM_020686.6(ABAT):c.1389G>A (p.Val463=) SNV Uncertain significance 887491 16:8875173-8875173 16:8781316-8781316
38 ABAT NM_020686.6(ABAT):c.1431G>A (p.Thr477=) SNV Uncertain significance 887492 16:8875215-8875215 16:8781358-8781358
39 ABAT NM_020686.6(ABAT):c.*2059C>A SNV Uncertain significance 887809 16:8877346-8877346 16:8783489-8783489
40 ABAT NM_020686.6(ABAT):c.*2070G>C SNV Uncertain significance 887810 16:8877357-8877357 16:8783500-8783500
41 ABAT NM_020686.6(ABAT):c.*2089G>A SNV Uncertain significance 887811 16:8877376-8877376 16:8783519-8783519
42 ABAT NM_020686.6(ABAT):c.168+3G>A SNV Uncertain significance 933448 16:8839958-8839958 16:8746101-8746101
43 ABAT NM_020686.6(ABAT):c.332C>A (p.Ala111Asp) SNV Uncertain significance 941758 16:8851629-8851629 16:8757772-8757772
44 ABAT NM_020686.6(ABAT):c.19G>A (p.Ala7Thr) SNV Uncertain significance 945833 16:8829615-8829615 16:8735758-8735758
45 ABAT NM_020686.6(ABAT):c.1254A>T (p.Gly418=) SNV Uncertain significance 948101 16:8870332-8870332 16:8776475-8776475
46 ABAT NM_020686.6(ABAT):c.540+5G>T SNV Uncertain significance 948147 16:8858692-8858692 16:8764835-8764835
47 ABAT NM_020686.6(ABAT):c.531G>C (p.Met177Ile) SNV Uncertain significance 948619 16:8858678-8858678 16:8764821-8764821
48 ABAT NM_020686.6(ABAT):c.680C>G (p.Thr227Ser) SNV Uncertain significance 951723 16:8862694-8862694 16:8768837-8768837
49 ABAT NM_020686.6(ABAT):c.108C>A (p.Asp36Glu) SNV Uncertain significance 952286 16:8839895-8839895 16:8746038-8746038
50 ABAT NM_020686.6(ABAT):c.1430C>T (p.Thr477Met) SNV Uncertain significance 959766 16:8875214-8875214 16:8781357-8781357

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 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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