DEAFNESS, AUTOSOMAL DOMINANT 20

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA26
DFNA20
Number of Symptoms 7
OrphanetNr:
OMIM Id: 604717
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:0008619) Bilateral sensorineural hearing impairment 23 / 7739
3
(OMIM) Deafness, profound, by 6th decade 1 / 7739
4
(OMIM) Audiogram shows sloping configuration 2 / 7739
5
(OMIM) Hearing loss begins with loss of high frequencies 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(HPO:0011462) Young adult onset 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Morell et al. (2000) reported a 3-generation family living in the U.S. Midwest in which some members had a bilateral, sloping, progressive, sensorineural hearing loss, first evident at 6,000 and 8,000 Hz. It was identified in some family ...
Molecular genetics OMIM In affected members of 4 families with autosomal dominant progressive sensorineural hearing loss (DFNA20/DFNA26), Zhu et al. (2003) identified heterozygous mutations in highly conserved regions of the ACTG1 gene (102560.0001-102560.0004). Three of the families had been reported by ...