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Trait
Optic nerve issue
Clinical name: Abnormal optic nerve morphology
Abnormality of the optic nerve.
Summary
- Also called
- Abnormality of the optic nerve, optic nerve abnormalities
- Body system
- Abnormality of the eye
Optic nerve issueHP:0000587
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Read the genes linked to Optic nerve issue, and the rest of your genome, with one test.
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Get my Genome Test33 genes linked to Optic nerve issue
Changes in these genes cause rare conditions in which Optic nerve issue 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 |
|---|---|---|
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Very often (80–99%) | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Very often (80–99%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Very often (80–99%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Very often (80–99%) | In 1 condition |
| DAG1dystroglycan 1 | Very often (80–99%) | In 1 condition |
| FANCBFA complementation group B | Very often (80–99%) | In 1 condition |
| FKRPfukutin related protein | Very often (80–99%) | In 1 condition |
| FKTNfukutin | Very often (80–99%) | In 1 condition |
| GGCXgamma-glutamyl carboxylase | Very often (80–99%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Very often (80–99%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Very often (80–99%) | In 1 condition |
| POMKprotein O-mannose kinase | Very often (80–99%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Very often (80–99%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Very often (80–99%) | In 1 condition |
| RXYLT1ribitol xylosyltransferase 1 | Very often (80–99%) | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | Very often (80–99%) | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | 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 |
| GATA2GATA binding protein 2 | Often (30–79%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| MYOCmyocilin | Often (30–79%) | In 1 condition |
| TYRtyrosinase | Often (30–79%) | In 2 conditions |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Sometimes (5–29%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sometimes (5–29%) | In 2 conditions |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| MYO5Amyosin VA | Sometimes (5–29%) | In 1 condition |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Sometimes (5–29%) | In 1 condition |
| NOD2nucleotide binding oligomerization domain containing 2 | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 1 condition |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Sometimes (5–29%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 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.
Narrower traits
- Damaged optic nerve64 genes
- Abnormal optic disc morphology37 genes
- Optic neuritis22 genes
- Optic nerve compression16 genes
- Leber optic atrophy13 genes
- Optic nerve dysplasia11 genes
- Morning glory anomaly7 genes
- Optic nerve misrouting5 genes
- Absent/small optic nerve2 genes
- Abnormal optic chiasm morphology1 gene
- Marcus Gunn pupil1 gene
- Optic pit1 gene
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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