Details of Disease

General Information of Disease (ID: DISDT292)

• Disease Name: Phytanoyl-CoA hydroxylase deficiency
• Synonyms: phytanoyl-CoA hydroxylase deficiency; PHYH related disorder of peroxisomal alpha oxidation; PHYH deficiency
• Definition: Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.
• Disease Hierarchy:
  DISUFDC6: Disorder of peroxisomal alpha oxidation
  DISDT292: Phytanoyl-CoA hydroxylase 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
PHYH	OTUG4BWA	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.