OTOSCLEROSIS 8
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OTSC8 |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
612096
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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: | No data available. |
Symptom Information:
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000362) | Otosclerosis | 10 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Hearing loss, unilateral or bilateral, conductive , sensorineural, or mixed | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM | In a large Tunisian family segregating autosomal dominant otosclerosis mapping to chromosome 9p13.1-q21.11, Bel Hadj Ali et al. (2008) sequenced 3 candidate genes, TJP2 (607709), TRPM3 (608961), and KLF9 (602902), but found no disease-causing mutations. |