Trait
Yellow bumps of fatty deposits on skin
Clinical name: Xanthomatosis
The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.
Summary
- Also called
- Xanthomata
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test18 genes linked to Yellow bumps of fatty deposits on skin
Changes in these genes cause rare conditions in which Yellow bumps of fatty deposits on skin 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 |
|---|---|---|
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 4 conditions |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| PPARGperoxisome proliferator activated receptor gamma | Very often (80–99%) | In 1 condition |
| ABCA1ATP binding cassette subfamily A member 1 | Often (30–79%) | In 1 condition |
| ABCG5ATP binding cassette subfamily G member 5 | Often (30–79%) | In 2 conditions |
| ABCG8ATP binding cassette subfamily G member 8 | Often (30–79%) | In 2 conditions |
| APOA1apolipoprotein A1 | Often (30–79%) | In 1 condition |
| APOBapolipoprotein B | Sometimes (5–29%) | In 1 condition |
| LDLRlow density lipoprotein receptor | Sometimes (5–29%) | In 1 condition |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Sometimes (5–29%) | In 1 condition |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Sometimes (5–29%) | In 1 condition |
| APOEapolipoprotein E | Not recorded | In 1 condition |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Not recorded | In 1 condition |
| NOTCH3notch receptor 3 | Not recorded | In 1 condition |
| SLC37A4solute carrier family 37 member 4 | Not recorded | In 2 conditions |
| SMPD1sphingomyelin phosphodiesterase 1 | 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.
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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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