Deafness, Autosomal Dominant 8/12 malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Dominant 8/12:
deafness, autosomal dominant 8/12:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases, Neuronal diseases, Cardiovascular diseases
UniProtKB/Swiss-Prot:67 Deafness, autosomal dominant, 12: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
MalaCards based summary: Deafness, Autosomal Dominant 8/12, also known as deafness, autosomal dominant, 12, is related to dfna 8/12 nonsyndromic hearing loss and deafness and dementia, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 8/12 is TECTA (Tectorin Alpha). Affiliated tissues include brain.
Description from OMIM:49 601543
MalaCards organs/tissues related to Deafness, Autosomal Dominant 8/12:33
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 8/12:67 (show all 29)
Clinvar genetic disease variations for Deafness, Autosomal Dominant 8/12:5
Search GEO for disease gene expression data for Deafness, Autosomal Dominant 8/12.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet