Cochleosaccular degeneration - cataract
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 10 |
| OrphanetNr: | 3233 |
| OMIM Id: |
120040
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| ICD-10: |
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| 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 dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic cataract
-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:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0007834) | Progressive cataract | 3 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0000707) | Abnormality of the nervous system | 61 / 7739 | ||||
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(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Cochleosaccular dysplasia of inner ear | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Nadol and Burgess (1982) described a family in which progressive deafness due to cochleosaccular degeneration of the inner ear was associated with progressive cataracts. The proband died at the age of 65 years of multiple injuries sustained in ... |