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Trait

Elevated levels of phytanic acid

Clinical name: Elevated circulating phytanic acid concentration

An abnormal elevation of phytanic acid.

HPO HP:0010571

Summary

Also called
Elevated level of phytanic acid
Body system
Laboratory abnormality

16 genes linked to Elevated levels of phytanic acid

Changes in these genes cause rare conditions in which Elevated levels of phytanic acid is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
AMACRalpha-methylacyl-CoA racemaseAlwaysIn 1 condition
PEX10peroxisomal biogenesis factor 10AlwaysIn 2 conditions
PEX12peroxisomal biogenesis factor 12AlwaysIn 2 conditions
PEX16peroxisomal biogenesis factor 16AlwaysIn 2 conditions
PEX7peroxisomal biogenesis factor 7AlwaysIn 3 conditions
PEX1peroxisomal biogenesis factor 1Very often (80–99%)In 1 condition
PEX11Bperoxisomal biogenesis factor 11 betaVery often (80–99%)In 1 condition
PEX13peroxisomal biogenesis factor 13Very often (80–99%)In 1 condition
PEX14peroxisomal biogenesis factor 14Very often (80–99%)In 1 condition
PEX19peroxisomal biogenesis factor 19Very often (80–99%)In 1 condition
PEX2peroxisomal biogenesis factor 2Very often (80–99%)In 3 conditions
PEX26peroxisomal biogenesis factor 26Very often (80–99%)In 1 condition
PEX3peroxisomal biogenesis factor 3Very often (80–99%)In 1 condition
PEX5peroxisomal biogenesis factor 5Very often (80–99%)In 1 condition
PEX6peroxisomal biogenesis factor 6Very often (80–99%)In 1 condition
PHYHphytanoyl-CoA 2-hydroxylaseNot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal circulating phytanic acid concentration

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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