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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:0003202 | Skeletal muscle atrophy |
| HP:0003326 | Myalgia |
| HP:0003691 | Scapular winging |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0007371 | Corpus callosum atrophy |
| HP:0009921 | Duane anomaly |
| HP:0011968 | Feeding difficulties |
| HP:0012378 | Fatigue |
| HP:0012511 | Temporal optic disc pallor |
