Deafness, Autosomal Dominant 8/12 malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal 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, Fetal diseases
Anatomical: Ear diseases, Neuronal diseases, Cardiovascular diseases
UniProtKB/Swiss-Prot:69 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 dfna12, is related to dfna 8/12 nonsyndromic hearing loss and deafness, 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.
Disease Ontology:11 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has material basis in mutation in the TECTA gene on chromosome 11q23.
Description from OMIM:51 601543
Genetic tests related to Deafness, Autosomal Dominant 8/12:
MalaCards organs/tissues related to Deafness, Autosomal Dominant 8/12:35
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 8/12:69 (show all 29)
Clinvar genetic disease variations for Deafness, Autosomal Dominant 8/12:5 (show all 11)
Search GEO for disease gene expression data for Deafness, Autosomal Dominant 8/12.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet