Trait
Otosclerosis
In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.
Summary
- Body system
- Abnormality of the ear
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test8 genes linked to Otosclerosis
Changes in these genes cause rare conditions in which Otosclerosis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Always | In 1 condition |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Always | In 1 condition |
| BPTFbromodomain PHD finger transcription factor | Sometimes (5–29%) | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sometimes (5–29%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Not recorded | In 2 conditions |
| COL1A2collagen type I alpha 2 chain | Not recorded | In 1 condition |
| FOXL1forkhead box L1 | Not recorded | In 1 condition |
| GDF6growth differentiation factor 6 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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