acyl-CoA binding domain containing protein 5 deficiency
Findings
No curated finding names acyl-CoA binding domain containing protein 5 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.
Definition from the Mondo Disease Ontology (MONDO:0100112), 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.
- ACBD5HGNC:23338
- Definitive · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
1 name
Resolves to: acyl-CoA binding domain containing protein 5 deficiency
- Also called
- ACBD5 deficiency