glyceronephosphate O-acyltransferase deficiency
MONDO:0100273Mondo
Findings
No curated finding names glyceronephosphate O-acyltransferase 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 GNPAT gene.
Definition from the Mondo Disease Ontology (MONDO:0100273), 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.
- GNPATHGNC:4416
- Definitive · ClinGen · Autosomal recessive · 2020
Where it sits
- Narrower terms (1)
Other names
1 name
Resolves to: glyceronephosphate O-acyltransferase deficiency
- Also called
- GNPAT deficiency