DEAFNESS, AUTOSOMAL DOMINANT 51

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA51
CHROMOSOME 9q21.11 DUPLICATION SYNDROME
Number of Symptoms 4
OrphanetNr:
OMIM Id: 613558
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
(OMIM) Hearing loss, age-related 1 / 7739
3
(HPO:0003676) Progressive disorder 148 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Walsh et al. (2010) reported a large 4-generation Jewish family of Tunisian descent with age-related progressive sensorineural hearing loss. Pure tone audiometry showed hearing loss with onset in the fourth decade, first affecting high frequencies and later becoming ...
Molecular genetics OMIM In affected members of a large Jewish family with DFNA51, Walsh et al. (2010) identified a tandem inverted duplication of the pericentromeric region of chromosome 9 spanning positions 71,705,804 to 71,974,823 for a size of approximately 269 kb. ...