DEAFNESS, AUTOSOMAL DOMINANT 9

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA9
Number of Symptoms 14
OrphanetNr:
OMIM Id: 601369
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:0008596) Postlingual sensorineural hearing impairment 2 / 7739
2
(HPO:0005102) Cochlear degeneration 5 / 7739
3
(HPO:0002321) Vertigo 58 / 7739
4
(HPO:0000360) Tinnitus 29 / 7739
5
(HPO:0009591) Abnormality of the vestibulocochlear nerve 1 / 7739
6
(OMIM) Superior semicircular canal dehiscence (SCCD) 1 / 7739
7
(OMIM) Temporal bone shows deposition of cochlin-positive eosinophilic extracellular ground substance in the channels of the cochlear and vestibular nerves 1 / 7739
8
(OMIM) Downward sloping audiogram 1 / 7739
9
(HPO:0011462) Young adult onset 7 / 7739
10
(OMIM) Atrophy of cochlear and vestibular fibrocytes 1 / 7739
11
(OMIM) Vestibular involvement (variable) 1 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(HPO:0003676) Progressive disorder 148 / 7739
14
(OMIM) Hearing loss, postlingual 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable vestibular dysfunction (summary by Robertson et al., 2006).
Clinical Description OMIM Manolis et al. (1996) reported results of a genetic linkage analysis in a family with nonsyndromic postlingual progressive sensorineural hearing loss. In this family hearing loss was inherited as an autosomal dominant trait which begins at approximately 20 ...
Molecular genetics OMIM In the original family of Manolis et al. (1996) and 2 additional families with DFNA9 identified with the characteristic histopathologic findings of acidophilic ground substance in the cochlea and vestibular labyrinth, Robertson et al. (1998) described separate mutations ...