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hearing loss with skin disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss with skin disease

MONDO:0100113

Overview

Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.

Diagnosis

Biomarker and diagnostic research for hearing loss with skin disease has been reported in the published literature.

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 hearing loss with skin disease.

201 publications have been identified in PubMed for hearing loss with skin disease. Kisho has analyzed 111 by research type. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (32%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Research summaries	37	33%

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 5:26 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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hearing loss with skin disease

Overview

Diagnosis

Research Landscape

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications