Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 8 |
| OrphanetNr: | 1171 |
| OMIM Id: |
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| ICD-10: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 families [Orphanet] |
| Inheritance: |
Autosomal dominant Mitochondrial inheritance [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant cerebellar ataxia type 1
-Rare eye disease -Rare genetic disease -Rare neurologic disease Autosomal dominant optic atrophy -Rare eye disease -Rare genetic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000597) | Ophthalmoparesis | Occasional [Orphanet] | 71 / 7739 | |||
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(HPO:0000508) | Ptosis | Occasional [Orphanet] | 459 / 7739 | |||
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(HPO:0000512) | Abnormal electroretinogram | Occasional [Orphanet] | 61 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0001315) | Reduced tendon reflexes | Very frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0003198) | Myopathy | Occasional [Orphanet] | 151 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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