Otosclerosis

Description

otosclerosis: Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.

Data source
FinnGen phenocode H8_OTOSCLE
Hospital Discharge registry ICD-10: H80, ICD-9: 387, ICD-8: 38699
Cause of Death registry ICD-10: H80, ICD-9: 387, ICD-8: 38699
Level in the ICD-hierarchy 3
First defined in version DF2
Ontology
DOID 12185
GWAS catalog 0004213
MESH D010040
SNOMED CT 11543004

Key figures

Sex All Female Male
Number of individuals 842 543 299
Unadjusted prevalence (%) 0.64 0.72 0.52
Mean age at first event (years) 45.26 44.34 46.94
Median number of events / individual 3 3 3

Clinical metrics

Sex All Female Male
Recurrence within 6 months (%) 43.23 42.73 44.15
Case fatality at 5-years (%) 0.83 0.37 1.67

Associations