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otosclerosis 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

otosclerosis 11

MONDO:0957928

Overview

GeneticsAutosomal dominant · FOXL1 (chr 16)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Inner ear hearing loss (sensorineural hearing impairment) and Conductive hearing impairment. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Inner ear hearing loss (sensorineural hearing impairment), Conductive hearing impairment

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FOXL1 encodes forkhead box L1 (345 aa). Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Highest expression in Artery Aorta (26.7 TPM) and Artery Tibial (24.9 TPM).

Otosclerosis 11 is associated with mutations in the FOXL1 gene on chromosome 16.

FOXL1 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for FOXL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for otosclerosis 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for otosclerosis 11.

42 publications have been identified in PubMed for otosclerosis 11. Research spans Clinical Trial Publication (50%), Review / Meta-Analysis (14%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
Clinical study results	21	50%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620576

Questions for Your Care Team

→Should I pursue genetic testing for FOXL1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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otosclerosis 11

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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