DEAFNESS, AUTOSOMAL DOMINANT 17

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA17 COCHLEOSACCULAR DEGENERATION, INCLUDED
Number of Symptoms 6
OrphanetNr:
OMIM Id: 603622
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005101) High-frequency hearing impairment 16 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Organ of Corti degeneration 1 / 7739
4
(OMIM) Cochleosaccular dysplasia 1 / 7739
5
(HPO:0003621) Juvenile onset 105 / 7739
6
(OMIM) Deafness, moderate-severe (onset in third decade) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lalwani et al. (1999) studied a 5-generation American family, previously reported by Lalwani et al. (1997), with deafness caused by cochleosaccular degeneration (CSD). CSD is the most common histopathologic finding in cases of profound congenital deafness and is ...
Molecular genetics OMIM DFNA17 maps to the same region as MYH9 (160775), a nonmuscle-myosin heavy-chain gene. Because of the importance of myosins in hearing, Lalwani et al. (2000) tested MYH9 as a candidate gene for DFNA17. Expression of MYH9 in the ...