alkylglycerone-phosphate synthase deficiency
MONDO:0100274Mondo
Findings
No curated finding names alkylglycerone-phosphate synthase 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 AGPS gene.
Definition from the Mondo Disease Ontology (MONDO:0100274), 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.
- AGPSHGNC:327
- Definitive · ClinGen · Autosomal recessive · 2022
Where it sits
- Narrower terms (1)
Other names
1 name
Resolves to: alkylglycerone-phosphate synthase deficiency
- Also called
- AGPS deficiency