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optic atrophy 1
Summary
- Synonym
-
- OPA1
- Definition
- An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
- Super Class
- autosomal dominant disease optic atrophy
External Links
- Disease Ontology
- DOID:0111441
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60313 | Dynamin-like GTPase OPA1, mitochondrial | |
| O76024 | Wolframin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000135 | Hypogonadism |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000551 | Color vision defect |
| HP:0000602 | Ophthalmoplegia |
| HP:0000603 | Central scotoma |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
