DEAFNESS, AUTOSOMAL DOMINANT 11

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA11
Number of Symptoms 8
OrphanetNr:
OMIM Id: 601317
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:0008619) Bilateral sensorineural hearing impairment 23 / 7739
2
(HPO:0002321) Vertigo 58 / 7739
3
(OMIM) Vertigo, mild 1 / 7739
4
(OMIM) Hearing loss, sensorineural, moderate, postlingual 1 / 7739
5
(OMIM) Audiogram may be ascending 1 / 7739
6
(OMIM) Audiogram is gently sloping or flat 1 / 7739
7
(OMIM) Vestibular dysfunction, mild 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant deafness-11 is a nonsyndromic form of progressive neurosensory hearing loss with postlingual onset. Some affected individuals have mild vestibular symptoms (summary by Sun et al., 2011).
Clinical Description OMIM Tamagawa et al. (1996) reported a Japanese family with autosomal dominant nonsyndromic hearing loss. Most affected individuals noticed hearing loss in their first decade of life, after complete speech acquisition, with subsequent gradual progression. All affected individuals had ...
Molecular genetics OMIM In affected members of the Japanese family with autosomal dominant nonsyndromic hearing loss mapping to 11q (Tamagawa et al., 1996), Liu et al. (1997) identified an in-frame 9-bp deletion in exon 22 of the MYO7A gene (276903.0011). The ...