Trait
Displaced pupil
Clinical name: Ectopia pupillae
A malposition of the pupil owing to a developmental defect of the iris.
Summary
- Also called
- Corectopia
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test24 genes linked to Displaced pupil
Changes in these genes cause rare conditions in which Displaced pupil 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 |
|---|---|---|
| ADAMTSL4ADAMTS like 4 | Always | In 2 conditions |
| CPAMD8C3 and PZP like alpha-2-macroglobulin domain containing 8 | Always | In 1 condition |
| FOXC1forkhead box C1 | Always | In 2 conditions |
| PAX6paired box 6 | Always | In 1 condition |
| PITX2paired like homeodomain 2 | Always | In 1 condition |
| WT1WT1 transcription factor | Always | In 1 condition |
| ZEB1zinc finger E-box binding homeobox 1 | Always | In 2 conditions |
| OTX2orthodenticle homeobox 2 | Often (30–79%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Often (30–79%) | In 2 conditions |
| TBX2T-box transcription factor 2 | Often (30–79%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 1 condition |
| OVOL2ovo like zinc finger 2 | Sometimes (5–29%) | In 2 conditions |
| RHOAras homolog family member A | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| COL4A1collagen type IV alpha 1 chain | Rarely (1–4%) | In 1 condition |
| COL8A2collagen type VIII alpha 2 chain | Rarely (1–4%) | In 1 condition |
| GRHL2grainyhead like transcription factor 2 | Rarely (1–4%) | In 2 conditions |
| VSX1visual system homeobox 1 | Rarely (1–4%) | In 1 condition |
| CPLX1complexin 1 | Not recorded | In 1 condition |
| CTBP1C-terminal binding protein 1 | Not recorded | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Not recorded | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Not recorded | In 1 condition |
| MAB21L2mab-21 like 2 | Not recorded | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | 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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