DEAFNESS, AUTOSOMAL DOMINANT 49

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA49
Number of Symptoms 8
OrphanetNr:
OMIM Id: 608372
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
2
(HPO:0001730) Progressive hearing impairment 29 / 7739
3
(OMIM) Nonsyndromic sensorineural hearing loss 2 / 7739
4
(HPO:0003621) Juvenile onset 105 / 7739
5
(OMIM) By fourth decade, there is severe hearing loss for mid frequencies and moderate hearing loss for high frequencies (4000-8000 Hz) (U-shaped audiometric profile) 1 / 7739
6
(OMIM) Initially, hearing loss is moderate for low (120-250 Hz) and mid (500-2000 Hz) frequencies 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Approximately 0.7dB per year hearing loss at all frequencies 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Moreno-Pelayo et al. (2003) reported a large Spanish family in which 14 members over 4 generations were affected with autosomal dominant nonsyndromic sensorineural hearing loss. Onset was in the first decade and was characterized by hearing loss that ...