DEAFNESS, AUTOSOMAL RECESSIVE 8
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DEAFNESS, AUTOSOMAL RECESSIVE 10 DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 DFNB10 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8 DFNB8 NSRD8 |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
601072
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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 recessive inheritance [Omim] |
| Age of onset: |
Childhood onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0008625) | Severe sensorineural hearing impairment | 150 / 7739 | ||||
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(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
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(HPO:0011463) | Childhood onset | 65 / 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 |
Veske et al. (1996) reported a large consanguineous Pakistani kindred segregating nonsyndromic childhood-onset deafness. Bonne-Tamir et al. (1996) reported a large consanguineous Pakistani family segregating congenital nonsyndromic deafness. |
| Molecular genetics OMIM |
Scott et al. (2001) determined that both DFNB8 and DFNB10 are caused by mutation in the TMPRSS3 gene (see 605511.0001 and 605511.0002). Wattenhofer et al. (2002) screened for mutation in the TMPRSS3 gene in 448 unrelated ... |