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optic atrophy 5
Summary
- Synonym
-
- OPA5
- Definition
- An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.
- Super Class
- autosomal dominant disease optic atrophy
External Links
- Disease Ontology
- DOID:0111438
- Mondo Disease Ontology
- MeSH
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00429 | Dynamin-1-like protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100543 | Cognitive impairment |
| HP:0003621 | Juvenile onset |
| HP:0000543 | Optic disc pallor |
| HP:0007924 | Slow decrease in visual acuity |
| HP:0001133 | Constriction of peripheral visual field |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003596 | Middle age onset |
| HP:0000552 | Tritanomaly |
| HP:0003677 | Slowly progressive |
