Details of Disease
General Information of Disease (ID: DISA86GW)
| Disease Name | X-linked mixed hearing loss with perilymphatic gusher | |||||
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| Synonyms |
deafness 3 conductive with stapes fixation; DFN 3 nonsyndromic hearing loss and deafness; deafness, X-linked 2; deafness mixed with perilymphatic gusher; deafness conductive with stapes fixation; deafness 3, conductive, with stapes fixation; sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear; deafness, mixed, with perilymphatic gusher; deafness, conductive, with stapes fixation; DFN3; perilymphatic gusher-deafness syndrome; gusher syndrome; deafness, X-linked 2, X-linked recessive; X-linked deafness type 2; deafness, X-linked type 2; conductive deafness with stapes fixation; Nance deafness; X-linked mixed conductive and sensorineural deafness; deafness mixed with perilymphatic gusher, X-linked; X-linked mixed deafness with perilymphatic gusher; X-linked mixed conductive and neurosensory deafness; central hearing loss; high-frequency hearing loss; perceptive hearing loss or deafness; sensorineural hearing loss; sensory hearing loss; sensorineural deafness; high frequency hearing loss; perceptive deafness; high frequency deafness; perceptive hearing loss; X-linked mixed conductive and sensorineural hearing loss; DFNX2; X-linked mixed conductive and neurosensory hearing loss; X-linked stapes gusher syndrome; X-linked mixed hearing loss with perilymphatic gusher
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| Definition |
X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.
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| Disease Identifiers | ||||||
Molecular Interaction Atlas (MIA) of This Disease
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This Disease Is Related to 2 DOT Molecule(s)
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References