Deafness, Autosomal Dominant 9 malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Dominant 9:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Ear diseases, Neuronal diseases, Cardiovascular diseases
UniProtKB/Swiss-Prot:69 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 nonsyndromic deafness, and has symptoms including tinnitus, vertigo and cochlear degeneration. An important gene associated with Deafness, Autosomal Dominant 9 is COCH (Cochlin).
Disease Ontology:11 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has material basis in mutation in the COCH gene on chromosome 14q12.
OMIM:51 DFNA9 is an autosomal dominant adult-onset form of progressive sensorineural hearing loss associated with variable... (601369) more...
Human phenotypes related to Deafness, Autosomal Dominant 9:63
UMLS symptoms related to Deafness, Autosomal Dominant 9:vertigo
Genetic tests related to Deafness, Autosomal Dominant 9:
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 9:69 (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.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet