Details of Disease

General Information of Disease (ID: DISN8INP)

• Disease Name: Glyceronephosphate O-acyltransferase deficiency
• Synonyms: glyceronephosphate O-acyltransferase deficiency; GNPAT deficiency
• Definition: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.
• Disease Hierarchy:
  DISBEK8G: Disorder of plasmalogens biosynthesis
  DISN8INP: Glyceronephosphate O-acyltransferase 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
GNPAT	OTF6LWPO	Definitive	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.