DEAFNESS, AUTOSOMAL DOMINANT 36

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA36
Number of Symptoms 3
OrphanetNr:
OMIM Id: 606705
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:0000407) Sensorineural hearing impairment 524 / 7739
2
 (HPO:0000360) Tinnitus 29 / 7739
3
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kurima et al. (2002) ascertained a large North American family segregating autosomal dominant nonsyndromic bilateral symmetric sensorineural hearing loss that began at 5 to 10 years of age and rapidly progressed to profound deafness within 10 to 15 ...
Molecular genetics OMIM In affected members of a large North American family with autosomal dominant hearing loss, Kurima et al. (2002) identified a heterozygous mutation in the TMC1 gene (D572N; 606706.0001). In addition, pathogenic TMC1 mutations were identified in 10 families ...