DEAFNESS, AUTOSOMAL RECESSIVE 6

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6
NSRD6
DFNB6
Number of Symptoms 2
OrphanetNr:
OMIM Id: 600971
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000365) Hearing impairment obligate [HPO:skoehler] 539 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sirmaci et al. (2009) reported multiple Turkish families with autosomal recessive DFNB6 confirmed by genetic analysis. The phenotype consisted of congenital/prelingual onset of severe to profound sensorineural hearing loss without other features and without inner ear anomalies.
Molecular genetics OMIM The TMIE gene (607237), located in the DFNB6 interval, is the human homolog of the mouse gene, Tmie, mutant in the 'spinner' phenotype (Mitchem et al., 2002). Therefore, Naz et al. (2002) performed a mutation screen of TMIE ...
Population genetics OMIM Sirmaci et al. (2009) found that the R84W mutation (607237.0003) was the most common mutation in the TMIE gene among Turkish families with autosomal recessive deafness. The frequency of the R84W mutation among families throughout Turkey with hearing ...