Trait
Papilledema
Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
Summary
- Body system
- Abnormality of the eye
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Get my Genome Test29 genes linked to Papilledema
Changes in these genes cause rare conditions in which Papilledema 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 |
|---|---|---|
| IFT172intraflagellar transport 172 | Always | In 1 condition |
| IL11RAinterleukin 11 receptor subunit alpha | Always | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Always | In 2 conditions |
| SLC4A2solute carrier family 4 member 2 | Always | In 1 condition |
| SOSTsclerostin | Always | In 2 conditions |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Always | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| CTNNB1catenin beta 1 | Often (30–79%) | In 1 condition |
| FAM111AFAM111 trypsin like peptidase A | Often (30–79%) | In 2 conditions |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Sometimes (5–29%) | In 1 condition |
| CCND1cyclin D1 | Sometimes (5–29%) | In 1 condition |
| MMP14matrix metallopeptidase 14 | Sometimes (5–29%) | In 1 condition |
| MMP2matrix metallopeptidase 2 | Sometimes (5–29%) | In 1 condition |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Sometimes (5–29%) | In 1 condition |
| PDGFBplatelet derived growth factor subunit B | Sometimes (5–29%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sometimes (5–29%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sometimes (5–29%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Sometimes (5–29%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Sometimes (5–29%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Sometimes (5–29%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Sometimes (5–29%) | In 1 condition |
| VHLvon Hippel-Lindau tumor suppressor | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Rarely (1–4%) | In 1 condition |
| FREM1FRAS1 related extracellular matrix 1 | Rarely (1–4%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| IDSiduronate 2-sulfatase | Not recorded | In 1 condition |
| TP53tumor protein p53 | 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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