non-syndromic sensorineural hearing loss
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Pathology
- 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
Genetics
- defects in GJB2 are the cause of autosomal recessive non-syndromic sensorineural deafness type 1 (DFNB1)
- defects in GJB2 are the cause of autosomal dominant non-syndromic sensorineural deafness 3
- defects in MYH14 are the cause of autosomal dominant non-syndromic sensorineural deafness 4
- defects DFNA5 are the cause of autosomal dominant non-syndromic sensorineural deafness 5
- defects in TECTA are the cause of autosomal dominant non-syndromic sensorineural deafness 8
- defects in TECTA are the cause of autosomal dominant non-syndromic sensorineural deafness 12
- defects in CDH23 are the cause of autosomal recessive non-syndromic sensorineural deafness 12
- defects in STRC are a cause of autosomal recessive non-syndromic sensorineural deafness type 16
- defects in MYH9 are the cause of autosomal dominant non-syndromic sensorineural deafness 17
- defects in TECTA are the cause of autosomal recessive non-syndromic sensorineural deafness 21
- defects in OTOA are a cause of autosomal recessive non-syndromic sensorineural deafness type 22
- defects in RDX are a cause of autosomal recessive non-syndromic sensorineural deafness type 24
- defects in CLDN14 are the cause of autosomal recessive non-syndromic sensorineural deafness type 29
- defects in ESRRB are the cause of autosomal recessive non-syndromic sensorineural deafness type 35
- defects in ESPN are the cause of autosomal recessive non-syndromic sensorineural deafness type 36
- defects in PJVK are the cause of non-syndromic sensorineural deafness autosomal recessive type 59
- defects in LHFPL5 are a cause of autosomal recessive non-syndromic sensorineural deafness 67
- defects in KIAA1199 may be a cause of nonsyndromic sensorineural hearing loss
Clinical manifestations
- type 36: prelingual, profound hearing loss & vestibular areflexia
Laboratory
More general terms
More specific terms
- autosomal dominant nonsyndromic sensorineural deafness 48
- autosomal dominant nonsyndromic sensorineural deafness 9
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O75443.html
- ↑ OMIM :accession 601543, 601842, 602574, 603629
- ↑ OMIM https://mirror.omim.org/entry/600994
- ↑ OMIM https://mirror.omim.org/entry/603720
- ↑ OMIM https://mirror.omim.org/entry/607039
- ↑ OMIM https://mirror.omim.org/entry/600652
- ↑ 7.0 7.1 ARUP Consult: Hereditary Nonsyndromic Hearing Loss - Connexin 26 or 30 The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/hearing-loss-hereditary-nonsyndromic
Database
- OMIM: https://mirror.omim.org/entry/601543
- OMIM: https://mirror.omim.org/entry/601554
- OMIM: https://mirror.omim.org/entry/601842
- OMIM: https://mirror.omim.org/entry/602574
- OMIM: https://mirror.omim.org/entry/603629
- OMIM: https://mirror.omim.org/entry/600994
- OMIM: https://mirror.omim.org/entry/603720
- OMIM: https://mirror.omim.org/entry/607039
- OMIM: https://mirror.omim.org/entry/608565
- OMIM: https://mirror.omim.org/entry/600652
- OMIM: https://mirror.omim.org/entry/610220
- OMIM: https://mirror.omim.org/entry/610265
- OMIM: https://mirror.omim.org/entry/220290
- OMIM: https://mirror.omim.org/entry/611022
- OMIM: https://mirror.omim.org/entry/603622
- OMIM: https://mirror.omim.org/entry/605608