fatty acyl-CoA reductase 1 upregulation
MONDO:0100230Mondo
Findings
No curated finding names fatty acyl-CoA reductase 1 upregulation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.
Definition from the Mondo Disease Ontology (MONDO:0100230), 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.
- FAR1HGNC:26222
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: fatty acyl-CoA reductase 1 upregulation
- Also called
- FAR1 upregulation