Trait
Retinal telangiectasia
Localized, irregular dilatation of small tortuous intraretinal blood vessels.
Reference genomeGRCh38hg38
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Get my Genome Test21 genes linked to Retinal telangiectasia
Changes in these genes cause rare conditions in which Retinal telangiectasia 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 |
|---|---|---|
| SETD2SET domain containing 2, histone lysine methyltransferase | Very often (80–99%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Often (30–79%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Often (30–79%) | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | Often (30–79%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Often (30–79%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Often (30–79%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Often (30–79%) | In 1 condition |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Often (30–79%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Often (30–79%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Often (30–79%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Often (30–79%) | In 1 condition |
| PCNAproliferating cell nuclear antigen | Often (30–79%) | In 1 condition |
| STN1STN1 subunit of CST complex | Often (30–79%) | In 1 condition |
| ACVRL1activin A receptor like type 1 | Sometimes (5–29%) | In 1 condition |
| ENGendoglin | Sometimes (5–29%) | In 1 condition |
| GDF2growth differentiation factor 2 | Sometimes (5–29%) | In 1 condition |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 1 condition |
| CTC1CST telomere replication complex component 1 | Not recorded | In 1 condition |
| FRG1FSHD region gene 1 | 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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