Deafness, Autosomal Recessive 18a malady
Categories: Genetic diseases, Neuronal diseases, Ear diseases, Rare diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Recessive 18a:
deafness, autosomal recessive 18a:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Ear diseases, Cardiovascular diseases
UniProtKB/Swiss-Prot:67 Deafness, autosomal recessive, 18A: 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 Recessive 18a, is also known as deafness, autosomal recessive 18, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 18a is USH1C (USH1 Protein Network Component Harmonin). Affiliated tissues include brain.
Description from OMIM:49 602092
MalaCards organs/tissues related to Deafness, Autosomal Recessive 18a:33
Clinvar genetic disease variations for Deafness, Autosomal Recessive 18a:5
Search GEO for disease gene expression data for Deafness, Autosomal Recessive 18a.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet