Trait
Abnormality of cholesterol metabolism
Clinical name: Abnormal circulating cholesterol concentration
Any deviation from the normal concentration of cholesterol in the blood circulation.
Summary
- Also called
- Abnormal cholesterol homeostasis
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Abnormality of cholesterol metabolism, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test6 genes linked to Abnormality of cholesterol metabolism
Changes in these genes cause rare conditions in which Abnormality of cholesterol metabolism 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 |
|---|---|---|
| DHCR2424-dehydrocholesterol reductase | Always | In 1 condition |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Very often (80–99%) | In 2 conditions |
| HTThuntingtin | Sometimes (5–29%) | In 1 condition |
| SLC2A3solute carrier family 2 member 3 | Sometimes (5–29%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Not recorded | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | 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.
Narrower traits
- Elevated serum cholesterol77 genes
- Decreased circulating cholesterol level20 genes
- Elevated 8-dehydrocholesterol2 genes
- Elevated 8(9)-cholestenol2 genes
- Elevated circulating desmosterol concentration1 gene
- Elevated circulating lathosterol concentration1 gene
- Abnormal circulating 7-dehydrocholesterol concentration
- Abnormal circulating lipoprotein cholesterol concentration
Broader traits
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks