Gaba-transaminase deficiency

Preferred Label : Gaba-transaminase deficiency;

Symbol : GABATD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 4-aminobutyrate aminotransferase gene (ABAT, 137150.0001);

Laboratory abnormalities : Increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (CSF); Increased beta-alanine (in 1 of 2 patients); Increased growth hormone (in 1 of 2 patients); Decreased hepatic GABA transaminase activity;

Prefixed ID : #613163;

Details

Origin ID

613163;

UMLS CUI

C0342708;

Currated CISMeF NLP mapping
- GABA aminotransferase deficiency [DO Concept]
- Gamma aminobutyric acid transaminase deficiency [ICD-11 More detail]
- Gamma aminobutyric acid transaminase deficiency [MeSH concept]
- Gamma-aminobutyric acid transaminase deficiency [ORDO Disease]
- Gamma-aminobutyric acid transaminase deficiency (disorder) [SNOMED CT concept]
- gamma aminobutyric acid transaminase deficiency [MeSH Supplementary Concept]
DO Cross reference
- GABA aminotransferase deficiency [DO Concept]
Genes related to phenotype
- 4-aminobutyrate aminotransferase [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Death in childhood [HPO term]
- Downslanted palpebral fissures [HPO term]
- Early death [HPO term]
- Global developmental delay [HPO term]
- High-pitched cry [HPO term]
- Hyperreflexia [HPO term]
- Increased linear growth [HPO term]
- Lethargy [HPO term]
- Leukodystrophy [HPO term]
- Posterior fossa cyst [HPO term]
- Psychomotor retardation [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Tall stature [HPO term]
ORDO concept(s)
- Gamma-aminobutyric acid transaminase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gamma aminobutyric acid transaminase deficiency [MeSH concept]
- Gamma aminobutyric acid transaminase deficiency [ICD-11 More detail]
- Gamma-aminobutyric acid transaminase deficiency [ORDO Disease]
- Gamma-aminobutyric acid transaminase deficiency (disorder) [SNOMED CT concept]
- gamma aminobutyric acid transaminase deficiency [MeSH Supplementary Concept]

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