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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Gamma aminobutyric acid transaminase deficiency (C535407)
Child Nodes:
Sister Nodes:
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..3-Hydroxyisobutyric aciduria (C535312)
..5-oxoprolinase deficiency (C535322)
..Acidemia, isovaleric (C538167)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Adams Nance syndrome (C538224)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Albinism (D000417) 30
..Alkaptonuria (D000474)
..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Aminoacylase 1 deficiency (C538246)
..Arakawa syndrome 2 (C537426)
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Aromatic amino acid decarboxylase deficiency (C537437)
..Beta ketothiolase deficiency (C535434)
..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Blue diaper syndrome (C536239)
..Camptodactyly taurinuria (C537972)
..Carboxypeptidase N Deficiency (C562876)
..Cystathionase Deficiency (C562680)
..Cysteine Peptiduria (C565659)
..Diaminopentanuria (C565630)
..Dibasic Amino Aciduria I (C567132)
..Dimethylglycine Dehydrogenase Deficiency (C565278)
..Gamma aminobutyric acid transaminase deficiency (C535407)
..Glucoglycinuria (C562670)
..Glutamate Monosodium Sensitivity (C562377)
..Glutamine deficiency, congenital (C536832)
..Glutaric aciduria 1 (C536833)
..Glutaric Aciduria III (C562818)
..Glutathione synthetase deficiency (C536835)
..Glutathionuria (C536836)
..Glycine N-Methyltransferase Deficiency (C564683)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Histidinemia (C538320)
..Homocarnosinosis (C535328)
..Hydroxykynureninuria (C536081)
..Hydroxyprolinemia (C562669)
..Hyperglycinemia, Nonketotic (D020158) 1
..HYPERGLYCINURIA (OMIM:138500)
..Hyperhomocysteinemia (D020138) 8
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemias (D020167) 3
..Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
..Hyperprolinemia (C538384)
..Hyperprolinemia type 2 (C538385)
..Hypertaurinuric Cardiomyopathy (C564157)
..Hypertryptophanemia (C538393)
..Hypertryptophanemia, Familial (C563467)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Isobutyryl-CoA dehydrogenase deficiency (C535541)
..Ketoadipicaciduria (C565453)
..Lysine Malabsorption Syndrome (C563080)
..Lysinuric Protein Intolerance (C562687)
..Maple Syrup Urine Disease (D008375) 5
..Mercaptolactate-Cysteine Disulfiduria (C563085)
..Methionine Adenosyltransferase Deficiency (C562681)
..Methionine Malabsorption Syndrome (C562682)
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Methylmalonic acidemia (C537358) 1
..Methylmalonic acidemia with homocystinuria (C537359)
..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..Methylmalonic aciduria cblA type (C537360)
..Methylmalonic aciduria cblB type (C537361)
..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..Methylmalonyl-CoA Epimerase Deficiency (C565386)
..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Carboxylase Deficiency (D009100) 4
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Phenylketonurias (D010661) 8
..Prolidase Deficiency (D056732)
..Propionic Acidemia (D056693) 1
..Richards-Rundle syndrome (C535674)
..Sarcosinemia (C537236)
..succinic semialdehyde dehydrogenase deficiency (C535803)
..Sulfite oxidase deficiency (C538141)
..Tiglic acidemia (C536921)
..Tryptophanuria With Dwarfism (C562658)
..Tyrosinemias (D020176) 1
..Tyrosinosis (C562659)
..Urea Cycle Disorders, Inborn (D056806) 16
..Urocanase deficiency (C536479)
..Valinemia (C536524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4489

Name:

Gamma aminobutyric acid transaminase deficiency

Definition:

Alternative IDs:

OMIM:613163

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C535407 |C18.452.648.100/C535407

Synonyms:

4 alpha aminobutyrate transaminase deficiency |Gaba-Transaminase Deficiency |GABA transaminase deficiency |Gamma aminobutyrate transaminase deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C535407
MeSH: C535407
OMIM: 613163;

Genes: ABAT;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0001321	Cerebellar hypoplasia
4	HP:0003819	Death in childhood
5	HP:0000494	Downslanted palpebral fissures
6	HP:0001263	Global developmental delay
7	HP:0025430	High-pitched cry
8	HP:0001347	Hyperreflexia
9	HP:0001254	Lethargy
10	HP:0002415	Leukodystrophy
11	HP:0007291	Posterior fossa cyst
12	HP:0000278	Retrognathia
13	HP:0001250	Seizure
14	HP:0006829	Severe muscular hypotonia
15	HP:0000098	Tall stature

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000663.4(ABAT):c.275G>A (p.Arg92Gln)	18	ABAT	Pathogenic	724159992	RCV000149900;	N	MedGen:C0342708,OMIM:613163,ORPHA:2066,SNOMED CT:237941007	16	8844355	8844355	NM_000663.4:c.275G>A	NP_000654.2:p.Arg92Gln	NC_000016.9:g.8844355G>A	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency
NM_000663.4(ABAT):c.631C>T (p.Leu211Phe)	18	ABAT	Pathogenic	724159990	RCV000149898;	N	MedGen:C0342708,OMIM:613163,ORPHA:2066,SNOMED CT:237941007	16	8862077	8862077	NM_000663.4:c.631C>T	NP_000654.2:p.Leu211Phe	NC_000016.9:g.8862077C>T	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency
NM_000663.4(ABAT):c.659G>A (p.Arg220Lys)	18	ABAT	Pathogenic	121434578	RCV000017603;	N	MedGen:C0342708,OMIM:613163,ORPHA:2066,SNOMED CT:237941007	16	8862105	8862105	NM_000663.4:c.659G>A	NP_000654.2:p.Arg220Lys	NC_000016.9:g.8862105G>A	OMIM Allelic Variant:137150.0001	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency
NM_000663.4(ABAT):c.1433T>C (p.Leu478Pro)	18	ABAT	Pathogenic	724159991	RCV000149899;	N	MedGen:C0342708,OMIM:613163,ORPHA:2066,SNOMED CT:237941007	16	8875217	8875217	NM_000663.4:c.1433T>C	NP_000654.2:p.Leu478Pro	NC_000016.9:g.8875217T>C	-	C0342708 613163 Gamma-aminobutyric acid transaminase deficiency