DEAFNESS, AUTOSOMAL DOMINANT 2A

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA2A
Number of Symptoms 8
OrphanetNr:
OMIM Id: 600101
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:0000365) Hearing impairment 539 / 7739
2
(HPO:0000360) Tinnitus 29 / 7739
3
(HPO:0003676) Progressive disorder 148 / 7739
4
(OMIM) Loss of high frequencies at onset 1 / 7739
5
(OMIM) No vestibular impairment 1 / 7739
6
(OMIM) Deafness, postlingual 1 / 7739
7
(OMIM) Loss of mid- and low-frequencies later 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Coucke et al. (1994) reported a large Indonesian family with autosomal dominant nonsyndromic progressive sensorineural hearing loss. The hearing loss first affected the high frequencies during the teens or 20s and became profound within 10 years.

...

Molecular genetics OMIM Kubisch et. al (1999) cloned the voltage-gated potassium channel KCNQ4 gene and identified a heterozygous mutation (G285S; 603537.0001) in affected members of a pedigree with DFNA2A.

In affected members of 2 Dutch families, an American family, ...