Trait
Ectopia lentis
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Summary
- Also called
- Abnormality of lens position, Lens dislocation
- 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 Test28 genes linked to Ectopia lentis
Changes in these genes cause rare conditions in which Ectopia lentis 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 |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Always | In 2 conditions |
| ASPHaspartate beta-hydroxylase | Always | In 1 condition |
| CPAMD8C3 and PZP like alpha-2-macroglobulin domain containing 8 | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 8 conditions |
| ADAMTSL4ADAMTS like 4 | Very often (80–99%) | In 3 conditions |
| CBScystathionine beta-synthase | Very often (80–99%) | In 2 conditions |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Often (30–79%) | In 2 conditions |
| COL11A1collagen type XI alpha 1 chain | Often (30–79%) | In 1 condition |
| FOXC1forkhead box C1 | Often (30–79%) | In 1 condition |
| LTBP2latent transforming growth factor beta binding protein 2 | Often (30–79%) | In 4 conditions |
| PAX6paired box 6 | Often (30–79%) | In 2 conditions |
| TRIM44TRIM family member 44 | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| FBN2fibrillin 2 | Sometimes (5–29%) | In 2 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| PAK2p21 (RAC1) activated kinase 2 | Sometimes (5–29%) | In 1 condition |
| WT1WT1 transcription factor | Sometimes (5–29%) | In 1 condition |
| AASSaminoadipate-semialdehyde synthase | Not recorded | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Not recorded | In 1 condition |
| C12orf57chromosome 12 open reading frame 57 | Not recorded | In 1 condition |
| COL5A1collagen type V alpha 1 chain | Not recorded | In 1 condition |
| MOCS1molybdenum cofactor synthesis 1 | Not recorded | In 1 condition |
| MOCS2molybdenum cofactor synthesis 2 | Not recorded | In 1 condition |
| PORCNporcupine O-acyltransferase | Not recorded | In 1 condition |
| SUOXsulfite oxidase | Not recorded | In 1 condition |
| TAP1transporter 1, ATP binding cassette subfamily B member | 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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