Details of Disease

General Information of Disease (ID: DIS7CMWR)

• Disease Name: Acyl-CoA binding domain containing protein 5 deficiency
• Synonyms: ACBD5 deficiency; acyl-CoA binding domain containing protein 5 deficiency
• 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.
• Disease Hierarchy:
  DIS4V9MP: Disorder of peroxisomal beta oxidation
  DISBEK8G: Disorder of plasmalogens biosynthesis
  DISVK0F8: Disorder of peroxisomal transporter
  DIS7CMWR: Acyl-CoA binding domain containing protein 5 deficiency

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACBD5	OT7L16DY	Moderate	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.