Autosomal recessive optic atrophy, OPA7 type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OPA7 |
| Number of Symptoms | 11 |
| OrphanetNr: | 227976 |
| OMIM Id: |
612989
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| ICD-10: |
H47.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive isolated optic atrophy
-Rare eye disease -Rare genetic disease Mitochondrial oxidative phosphorylation disorder with no known mechanism -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000486) | Strabismus | rare [HPO:skoehler] | 576 / 7739 | |||
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(HPO:0000543) | Optic disc pallor | 19327736 | IBIS | 67 / 7739 | ||
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(HPO:0000666) | Horizontal nystagmus | rare [HPO:skoehler] | 32 / 7739 | |||
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(HPO:0000603) | Central scotoma | 19327736 | IBIS | 18 / 7739 | ||
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(HPO:0007663) | Reduced visual acuity | 100 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000505) | Visual impairment | 19327736 | IBIS | 297 / 7739 | ||
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(HPO:0007641) | Dyschromatopsia | 19 / 7739 | ||||
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(HPO:0001133) | Constriction of peripheral visual field | 33 / 7739 | ||||
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(HPO:0001639) | Hypertrophic cardiomyopathy | rare [HPO:skoehler] | 137 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
In a large multiplex inbred Algerian family and subsequently in 3 other Maghreb families, Hanein et al. (2009) identified an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disc pallor, and central ... |
| Molecular genetics OMIM |
Because all optic atrophy genes known to that time encode mitochondrial proteins, Hanein et al. (2009) selected 3 genes from the OPA7 critical region predicted to encode mitochondrial proteins for mutation analysis. Hanein et al. (2009) identified a ... |