alanine glyoxylate aminotransferase deficiency
MONDO:0100278Mondo
Findings
No curated finding names alanine glyoxylate aminotransferase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.
Definition from the Mondo Disease Ontology (MONDO:0100278), 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.
- AGXTHGNC:341
- Definitive · ClinGen · Autosomal recessive · 2020
Where it sits
- A kind of
- Narrower terms (1)
Other names
2 names
Resolves to: alanine glyoxylate aminotransferase deficiency
- Also called
- AGXT defectAGXT deficiency