Deafness, Autosomal Dominant 3b malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Dominant 3b:
deafness, autosomal dominant 3b:
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, 3B: A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. 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 3b, also known as deafness, autosomal dominant, 3b, is related to gjb6-related dfna 3 nonsyndromic hearing loss and deafness, and has symptoms including adult onset sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 3b is GJB6 (Gap Junction Protein Beta 6). Affiliated tissues include brain.
Disease Ontology:11 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the GJB6 gene on chromosome 13q12.
Description from OMIM:51 612643
Genetic tests related to Deafness, Autosomal Dominant 3b:
MalaCards organs/tissues related to Deafness, Autosomal Dominant 3b:35
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 3b:69
Clinvar genetic disease variations for Deafness, Autosomal Dominant 3b:5
Search GEO for disease gene expression data for Deafness, Autosomal Dominant 3b.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet