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MIRAGE
dominant optic atrophy plus syndrome
Summary
- Synonym
-
- DOA+
- optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- Definition
- A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111340
- Mondo Disease Ontology
- UMLS
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60313 | Dynamin-like GTPase OPA1, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001488 | Bilateral ptosis |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0003198 | Myopathy |
| HP:0000819 | Diabetes mellitus |
| HP:0003438 | Absent Achilles reflex |
| HP:0001251 | Ataxia |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0001761 | Pes cavus |
| HP:0009830 | Peripheral neuropathy |
| HP:0100285 | EMG: impaired neuromuscular transmission |
