Trait
Abnormality of the iris
Clinical name: Abnormality iris morphology
An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test32 genes linked to Abnormality of the iris
Changes in these genes cause rare conditions in which Abnormality of the iris 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 |
|---|---|---|
| NR4A2nuclear receptor subfamily 4 group A member 2 | Very often (80–99%) | In 1 condition |
| TBR1T-box brain transcription factor 1 | Very often (80–99%) | In 1 condition |
| ACTA2actin alpha 2, smooth muscle | Often (30–79%) | In 1 condition |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Often (30–79%) | In 1 condition |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Often (30–79%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 1 condition |
| FBN1fibrillin 1 | Often (30–79%) | In 1 condition |
| FOXE3forkhead box E3 | Often (30–79%) | In 1 condition |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Often (30–79%) | In 1 condition |
| LOXlysyl oxidase | Often (30–79%) | In 1 condition |
| MAT2Amethionine adenosyltransferase 2A | Often (30–79%) | In 1 condition |
| MFAP5microfibril associated protein 5 | Often (30–79%) | In 1 condition |
| MYH11myosin heavy chain 11 | Often (30–79%) | In 1 condition |
| MYLKmyosin light chain kinase | Often (30–79%) | In 1 condition |
| MYOCmyocilin | Often (30–79%) | In 1 condition |
| PRKG1protein kinase cGMP-dependent 1 | Often (30–79%) | In 1 condition |
| SMAD2SMAD family member 2 | Often (30–79%) | In 1 condition |
| SMAD3SMAD family member 3 | Often (30–79%) | In 1 condition |
| SMAD4SMAD family member 4 | Often (30–79%) | In 1 condition |
| TGFB2transforming growth factor beta 2 | Often (30–79%) | In 1 condition |
| TGFB3transforming growth factor beta 3 | Often (30–79%) | In 1 condition |
| TGFBR1transforming growth factor beta receptor 1 | Often (30–79%) | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Often (30–79%) | In 1 condition |
| THSD4thrombospondin type 1 domain containing 4 | Often (30–79%) | In 1 condition |
| FKRPfukutin related protein | Sometimes (5–29%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Sometimes (5–29%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Sometimes (5–29%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sometimes (5–29%) | In 1 condition |
| POMKprotein O-mannose kinase | Sometimes (5–29%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Sometimes (5–29%) | 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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