Deafness, Autosomal Dominant 36 malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Dominant 36:
deafness, autosomal dominant 36:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Ear diseases, Neuronal diseases, Cardiovascular diseases
UniProtKB/Swiss-Prot:69 Deafness, autosomal dominant, 36: 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. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years.
MalaCards based summary: Deafness, Autosomal Dominant 36, also known as dfna36, is related to dfna36 nonsyndromic hearing loss and deafness, and has symptoms including tinnitus and sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Dominant 36 is TMC1 (Transmembrane Channel Like 1). Affiliated tissues include brain.
Disease Ontology:11 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has material basis in mutation in the TMC1 gene on chromosome 9q21.
Description from OMIM:51 606705
Genetic tests related to Deafness, Autosomal Dominant 36:
MalaCards organs/tissues related to Deafness, Autosomal Dominant 36:35
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 36:69
Clinvar genetic disease variations for Deafness, Autosomal Dominant 36:5
Search GEO for disease gene expression data for Deafness, Autosomal Dominant 36.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet