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Otosclerosis

DOID EFO MESH SNOMED Endpoint Browser PheWeb

H8_OTOSCLE

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.

Endpoint definition

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FinnGen phenotype data

429209 individuals

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Apply sex-specific rule None

429209

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Check conditions None

429209

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Check pre-conditions, main-only, mode, registry filters

Hospital Discharge: ICD-10 H80
Hospital discharge: ICD-9 387
Hospital discharge: ICD-8 38699
Cause of death: ICD-10 H80
Cause of death: ICD-9 387
Cause of death: ICD-8 38699

2 out of 7 registries used, show all original rules.

2513

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Check minimum number of events None

2513

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Include endpoints None

2513

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Remove individuals based on genotype QC

2423

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H8_OTOSCLE

Control definitions

Control exclude H8_INNER

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H80-H83
Name in latin Otosclerosis

Summary Statistics

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Key figures

All Female Male
Number of individuals 2423 1529 894
Unadjusted prevalence (%) 0.59 0.66 0.49
Mean age at first event (years) 45.62 44.46 47.60

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 0.01 0.56 [0.33, 0.94] 2.9e-2 236
15 years 0.00 0.44 [0.28, 0.69] 3.8e-4 86
5 years 0.00 0.63 [0.38, 1.04] 7.2e-2 28
1 year - - - -

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: H8_OTOSCLE – Otosclerosis
GWS hits: 30

Survival analyses between endpoints

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Plot

before Otosclerosis
after Otosclerosis

loading spinner Loading survival analyses plot