1. Mendelian
  2. Rare Diseases
  3. OTOSCLEROSIS 1; OTSC1

Otosclerosis 1; Otsc1

Table of contents:

Description

Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by Tomek et al., 1998). Genetic Heterogeneity of OtosclerosisThe locus associated with otosclerosis-1 (OTSC1) has been mapped to chromosome 15q26.1. Other loci associated with otosclerosis include OTSC2 (OMIM ) on chromosome 7q; OTSC3 (OMIM ) on chromosome 6p; OTSC4 (OMIM ) on chromosome 16q; OTSC5 (OMIM ) on chromosome 3q22-q24; OTSC7 (OMIM ) on chromosome 6q13; OTSC8 (OMIM ) on chromosome 9p13.1-q21.11; and OTSC10 (OMIM ) on chromosome 1q41-q44.The symbols OTSC6 and OTSC9 were reserved by the HUGO Gene Nomenclature Committee on January 30, 2003 and February 10, 2009, respectively, for as yet unpublished loci for otosclerosis.

Clinical Features

Phenotypes and symptoms related to Otosclerosis 1; Otsc1

  • Hearing impairment
  • Sensorineural hearing impairment
  • Conductive hearing impairment
  • Ankylosis
  • Otosclerosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

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OMIM Rare Disease Symptoms Checker

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