AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1

General Information (adopted from Orphanet):

Synonyms, Signs: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT
AUNA1
NSDAN
Number of Symptoms 13
OrphanetNr:
OMIM Id: 609129
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:0008529) Absence of acoustic reflex 2 / 7739
2
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
(HPO:0001963) Abnormal speech discrimination 2 / 7739
4
(HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Normal cochlear microphonics 1 / 7739
7
(OMIM) Abnormal gap detection 1 / 7739
8
(OMIM) Abnormal or absent auditory nerve and brainstem responses 1 / 7739
9
(OMIM) Normal outer hair cell functions 1 / 7739
10
(OMIM) Hearing loss, neural type 1 / 7739
11
(OMIM) Normal otoacoustic emissions 1 / 7739
12
(OMIM) Abnormal auditory temporal processes 1 / 7739
13
(OMIM) Abnormal amplitude modulation detection 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such ...
Clinical Description OMIM Kim et al. (2004) described a multigenerational U.S. family of European descent segregating autosomal dominant auditory neuropathy. Hearing loss had an average age of onset of 18.6 years. Affected members were heterozygous except for 2 homozygous individuals whose ...
Molecular genetics OMIM In affected members of a family with autosomal dominant auditory neuropathy-1 originally reported by Kim et al. (2004), Schoen et al. (2010) identified a heterozygous mutation (-172G-A; 614567.0001) in the 5-prime untranslated region of the DIAPH3 gene that ...