Deafness, Autosomal Dominant 6/14/38 malady
Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases
Aliases & Descriptions for Deafness, Autosomal Dominant 6/14/38:
deafness, autosomal dominant 6/14/38:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Ear diseases, Neuronal diseases, Cardiovascular diseases
OMIM:51 Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below... (600965) more...
MalaCards based summary: Deafness, Autosomal Dominant 6/14/38, also known as dfna6, is related to dfna 6/14/38 nonsyndromic hearing loss and deafness and dfna6/14/38 nonsyndromic low frequency sensorineural hearing loss, and has symptoms including progressive sensorineural hearing impairment and low-frequency sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Dominant 6/14/38 is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include brain.
Disease Ontology:11 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has material basis in mutation in the WFS1 gene on chromosome 4p16.
UniProtKB/Swiss-Prot:69 Deafness, autosomal dominant, 6: 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. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness.
MalaCards organs/tissues related to Deafness, Autosomal Dominant 6/14/38:35
UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 6/14/38:69 (show all 12)
Clinvar genetic disease variations for Deafness, Autosomal Dominant 6/14/38:5
Search GEO for disease gene expression data for Deafness, Autosomal Dominant 6/14/38.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet