Deafness, Autosomal Dominant 9 malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Dominant 9:
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases, Neuronal diseases, Cardiovascular diseases
UniProtKB/Swiss-Prot:67 Deafness, autosomal dominant, 9: A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.
MalaCards based summary: Deafness, Autosomal Dominant 9, also known as deafness, autosomal dominant, 9, is related to dfna 9 nonsyndromic hearing loss and deafness, and has symptoms including abnormality of the vestibulocochlear nerve, postlingual sensorineural hearing impairment and cochlear degeneration. An important gene associated with Deafness, Autosomal Dominant 9 is COCH (Cochlin).
OMIM:49 DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable... (601369) more...
HPO human phenotypes related to Deafness, Autosomal Dominant 9:
UMLS symptoms related to Deafness, Autosomal Dominant 9:vertigo
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 9:67 (show all 13)
Clinvar genetic disease variations for Deafness, Autosomal Dominant 9:5
Search GEO for disease gene expression data for Deafness, Autosomal Dominant 9.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet