Details of Disease | DrugMAP

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

Molecular Interaction Atlas (MIA)

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]
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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.