Trait
Rieger anomaly
A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test13 genes linked to Rieger anomaly
Changes in these genes cause rare conditions in which Rieger anomaly 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 |
|---|---|---|
| ADAMTSL1ADAMTS like 1 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Sometimes (5–29%) | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Sometimes (5–29%) | In 1 condition |
| FOXC1forkhead box C1 | Not recorded | In 1 condition |
| IGF1Rinsulin like growth factor 1 receptor | Not recorded | In 1 condition |
| PAX6paired box 6 | Not recorded | In 1 condition |
| PITX2paired like homeodomain 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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