Trait

Fatty deposits in skin around the eyes

Clinical name: Xanthelasma

The presence of xanthomata in the skin of the eyelid.

HPO HP:0001114

Also called: Fatty deposits on eyelids, Xanthelasma palpebrarum, Xanthoma
Body system: Abnormality of head or neck Abnormality of the integument

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27 genes linked to Fatty deposits in skin around the eyes

Changes in these genes cause rare conditions in which Fatty deposits in skin around the eyes 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.

Gene	How often it is seen	Conditions
ABCG8ATP binding cassette subfamily G member 8	Always	In 1 condition
ABCA1ATP binding cassette subfamily A member 1	Often (30–79%)	In 1 condition
APOA1apolipoprotein A1	Often (30–79%)	In 1 condition
APOEapolipoprotein E	Often (30–79%)	In 1 condition
IL12Ainterleukin 12A	Often (30–79%)	In 1 condition
IL12RB1interleukin 12 receptor subunit beta 1	Often (30–79%)	In 1 condition
IRF5interferon regulatory factor 5	Often (30–79%)	In 1 condition
MMEL1membrane metalloendopeptidase like 1	Often (30–79%)	In 1 condition
PDGFRBplatelet derived growth factor receptor beta	Often (30–79%)	In 1 condition
POU2AF1POU class 2 homeobox associating factor 1	Often (30–79%)	In 1 condition
SPIBSpi-B transcription factor	Often (30–79%)	In 1 condition
STAT3signal transducer and activator of transcription 3	Often (30–79%)	In 1 condition
TNFSF15TNF superfamily member 15	Often (30–79%)	In 1 condition
TNPO3transportin 3	Often (30–79%)	In 1 condition
LPLlipoprotein lipase	Sometimes (5–29%)	In 1 condition
SLC37A4solute carrier family 37 member 4	Sometimes (5–29%)	In 3 conditions
SPRED1sprouty related EVH1 domain containing 1	Rarely (1–4%)	In 1 condition
APOA2apolipoprotein A2	Not recorded	In 1 condition
APOBapolipoprotein B	Not recorded	In 1 condition
CYP27A1cytochrome P450 family 27 subfamily A member 1	Not recorded	In 1 condition
EPHX2epoxide hydrolase 2	Not recorded	In 1 condition
G6PC1glucose-6-phosphatase catalytic subunit 1	Not recorded	In 1 condition
GHRgrowth hormone receptor	Not recorded	In 1 condition
LDLRlow density lipoprotein receptor	Not recorded	In 1 condition
PCSK9proprotein convertase subtilisin/kexin type 9	Not recorded	In 1 condition
PPP1R17protein phosphatase 1 regulatory subunit 17	Not recorded	In 1 condition
TTPAalpha tocopherol transfer protein	Not recorded	In 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

Eyelid nodules Yellow bumps of fatty deposits on skin

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 2026.10.17-8666dff2.

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