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non-syndromic sensorineural hearing loss

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: - see ARUP consult [7]

Related

tectorin-alpha (TECTA)

Specific

autosomal dominant nonsyndromic sensorineural deafness 48 autosomal dominant nonsyndromic sensorineural deafness 9

General

sensorineural hearing loss genetic disease of the auditory system

Database Correlations

OMIM correlations MORBIDMAP correlations

References

  1. UniProt :accession O75443
  2. OMIM :accession 601543, 601842, 602574, 603629
  3. OMIM :accession 600994
  4. OMIM :accession 603720
  5. OMIM :accession 607039
  6. OMIM :accession 600652
  7. 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