Trait
Corneal dystrophy
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test33 genes linked to Corneal dystrophy
Changes in these genes cause rare conditions in which Corneal dystrophy 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 |
|---|---|---|
| DCNdecorin | Always | In 1 condition |
| TGFBItransforming growth factor beta induced | Always | In 3 conditions |
| ZEB1zinc finger E-box binding homeobox 1 | Always | In 2 conditions |
| COL17A1collagen type XVII alpha 1 chain | Very often (80–99%) | In 1 condition |
| GLAgalactosidase alpha | Very often (80–99%) | In 2 conditions |
| MAB21L1mab-21 like 1 | Very often (80–99%) | In 1 condition |
| SLC4A11solute carrier family 4 member 11 | Very often (80–99%) | In 4 conditions |
| EXOSC2exosome component 2 | Often (30–79%) | In 1 condition |
| AGKacylglycerol kinase | Sometimes (5–29%) | In 1 condition |
| CRYAAcrystallin alpha A | Sometimes (5–29%) | In 1 condition |
| CRYBA4crystallin beta A4 | Sometimes (5–29%) | In 1 condition |
| CRYBB1crystallin beta B1 | Sometimes (5–29%) | In 1 condition |
| CRYBB2crystallin beta B2 | Sometimes (5–29%) | In 1 condition |
| CRYGCcrystallin gamma C | Sometimes (5–29%) | In 1 condition |
| CRYGDcrystallin gamma D | Sometimes (5–29%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Sometimes (5–29%) | In 1 condition |
| GNAQG protein subunit alpha q | Sometimes (5–29%) | In 1 condition |
| LRP1LDL receptor related protein 1 | Sometimes (5–29%) | In 1 condition |
| MAFMAF bZIP transcription factor | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 2 conditions |
| OPN1LWopsin 1, long wave sensitive | Sometimes (5–29%) | In 1 condition |
| OPN1MWopsin 1, medium wave sensitive | Sometimes (5–29%) | In 1 condition |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Sometimes (5–29%) | In 1 condition |
| TKFCtriokinase and FMN cyclase | Sometimes (5–29%) | In 1 condition |
| TRIM37tripartite motif containing 37 | Sometimes (5–29%) | In 1 condition |
| COL4A3collagen type IV alpha 3 chain | Rarely (1–4%) | In 1 condition |
| COL4A4collagen type IV alpha 4 chain | Rarely (1–4%) | In 1 condition |
| AGBL1AGBL carboxypeptidase 1 | Not recorded | In 1 condition |
| CHST6carbohydrate sulfotransferase 6 | Not recorded | In 1 condition |
| COL8A2collagen type VIII alpha 2 chain | Not recorded | In 2 conditions |
| KRT12keratin 12 | Not recorded | In 1 condition |
| TACSTD2tumor associated calcium signal transducer 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.
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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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