DEAFNESS, AUTOSOMAL DOMINANT 6

General Information (adopted from Orphanet):

Synonyms, Signs: DEAFNESS, AUTOSOMAL DOMINANT 14
DFNA38
DFNA14
DEAFNESS, AUTOSOMAL DOMINANT 38
DFNA6
Number of Symptoms 4
OrphanetNr:
OMIM Id: 600965
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008573) Low-frequency sensorineural hearing impairment 1 / 7739
2
(HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
3
(OMIM) Progressive, low frequency sensorineural hearing loss 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected (Bespalova et al., 2001). Many patients have tinnitus, but there are otherwise no associated features ...
Molecular genetics OMIM Bespalova et al. (2001) further studied the DFNA6 family of Lesperance et al. (1995) and identified a phenocopy, thus concluding that DFNA6 and DFNA14 are allelic. The DFNA6/14 critical region includes WFS1 (606201), mutations in which are responsible ...