Deafness, Autosomal Recessive 76 malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Recessive 76:
deafness, autosomal recessive 76:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases, Neuronal diseases, Cardiovascular diseases
UniProtKB/Swiss-Prot:67 Deafness, autosomal recessive, 76: A form of non-syndromic sensorineural deafness, a disorder resulting 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. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood.
MalaCards based summary: Deafness, Autosomal Recessive 76, also known as deafness, autosomal recessive, 76, is related to dfna76 nonsyndromic hearing loss and deafness, and has symptoms including progressive sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 76 is SYNE4 (Spectrin Repeat Containing Nuclear Envelope Family Member 4). Affiliated tissues include brain.
Description from OMIM:49 615540
MalaCards organs/tissues related to Deafness, Autosomal Recessive 76:33
Clinvar genetic disease variations for Deafness, Autosomal Recessive 76:5
Search GEO for disease gene expression data for Deafness, Autosomal Recessive 76.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet