bile acid CoA:amino acid N-acyltransferase deficiency
MONDO:0100305Mondo
Findings
No curated finding names bile acid CoA:amino acid N-acyltransferase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.
Definition from the Mondo Disease Ontology (MONDO:0100305), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BAATHGNC:932
- Moderate · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
1 name
Resolves to: bile acid CoA:amino acid N-acyltransferase deficiency
- Also called
- BAAT deficiency