DEAFNESS, AUTOSOMAL DOMINANT 5

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA5
Number of Symptoms 2
OrphanetNr:
OMIM Id: 600994
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:0000408) Progressive sensorineural hearing impairment 28 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Huizing et al. (1966, 1966) studied 5 generations of an extensive Dutch kindred in which 67 persons had noncongenital progressive perceptive deafness. Onset was in early childhood with impairment of high frequencies. The loss increased rapidly with gradual ...
Molecular genetics OMIM By a positional cloning strategy, Van Laer et al. (1998) isolated a gene from the DFNA5 region that is expressed in the cochlea. In members of the family originally described by Huizing et al. (1966, 1966), they identified ...