Trait
Increased circulating LDL level
Clinical name: Elevated circulating LDL-C concentration
The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal.
Summary
- Also called
- Increased LDL cholesterol, Elevated low-density lipoprotein cholesterol concentration, Elevated low-density lipoprotein cholesterol level, Elevated low-density lipoprotein cholesterol level in blood, Hyperbetalipoproteinemia, Increased beta-lipoproteins, Increased circulating low-density lipoprotein cholesterol, Increased circulating low-density lipoprotein levels, Increased LDLc concentration, Increased low-density lipoprotein cholesterol concentration, Increased low-density lipoprotein cholesterol level, Increased low-density lipoprotein cholesterol level in blood, Increased plasma LDL levels
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test33 genes linked to Increased circulating LDL level
Changes in these genes cause rare conditions in which Increased circulating LDL level 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 |
|---|---|---|
| ABCA2ATP binding cassette subfamily A member 2 | Always | In 1 condition |
| ABCG5ATP binding cassette subfamily G member 5 | Always | In 1 condition |
| ABCG8ATP binding cassette subfamily G member 8 | Always | In 1 condition |
| ALBalbumin | Always | In 1 condition |
| APOBapolipoprotein B | Always | In 2 conditions |
| LDLRlow density lipoprotein receptor | Always | In 2 conditions |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Always | In 1 condition |
| LIPAlipase A, lysosomal acid type | Always | In 1 condition |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Always | In 1 condition |
| VMA22vacuolar ATPase assembly factor VMA22 | Always | In 1 condition |
| APOEapolipoprotein E | Very often (80–99%) | In 1 condition |
| CYP7A1cytochrome P450 family 7 subfamily A member 1 | Very often (80–99%) | In 1 condition |
| VMA12vacuolar ATPase assembly factor VMA12 | Very often (80–99%) | In 1 condition |
| CELA2Achymotrypsin like elastase 2A | Often (30–79%) | In 1 condition |
| DYRK1Bdual specificity tyrosine phosphorylation regulated kinase 1B | Often (30–79%) | In 1 condition |
| EMDemerin | Often (30–79%) | In 1 condition |
| FHL1four and a half LIM domains 1 | Often (30–79%) | In 1 condition |
| LMNAlamin A/C | Often (30–79%) | In 4 conditions |
| SLC7A7solute carrier family 7 member 7 | Often (30–79%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Often (30–79%) | In 3 conditions |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Often (30–79%) | In 1 condition |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Often (30–79%) | In 1 condition |
| TMEM43transmembrane protein 43 | Often (30–79%) | In 1 condition |
| CEP19centrosomal protein 19 | Sometimes (5–29%) | In 1 condition |
| SLC25A13solute carrier family 25 member 13 | Sometimes (5–29%) | In 1 condition |
| APOA2apolipoprotein A2 | Not recorded | In 1 condition |
| EPHX2epoxide hydrolase 2 | Not recorded | In 1 condition |
| GHRgrowth hormone receptor | Not recorded | In 1 condition |
| LCATlecithin-cholesterol acyltransferase | Not recorded | In 1 condition |
| LPLlipoprotein lipase | Not recorded | In 1 condition |
| LRP6LDL receptor related protein 6 | 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
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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