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Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment). 2 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 2 | Abnormal cochlea morphology, Inner ear hearing loss (sensorineural hearing impairment) |
Age of onset: adulthood.
TRRAP function has not been fully characterized.
Hearing loss, autosomal dominant 75 is associated with mutations in the TRRAP gene on chromosome 7.
Genetic testing for TRRAP is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for hearing loss, autosomal dominant 75 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for hearing loss, autosomal dominant 75.
17 publications have been identified in PubMed for hearing loss, autosomal dominant 75. Kisho has analyzed 12 by research type. Research spans Case Report / Case Series (42%), Epidemiology / Natural History (25%), and Review / Meta-Analysis (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 42% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:50 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Disease patterns and progression |
3 |
25% |
Research summaries | 2 | 17% |
Testing and diagnosis research | 1 | 8% |
Laboratory research | 1 | 8% |
Kayhan G (2026). [PMID: 41751633](https://pubmed.ncbi.nlm.nih.gov/41751633/). *Genes*. [Diagnostic / Biomarker]
Wang J (2026). [PMID: 41923037](https://pubmed.ncbi.nlm.nih.gov/41923037/). *BMC Med Genomics*. [Case Report / Case Series]
Minotti C (2026). [PMID: 40583039](https://pubmed.ncbi.nlm.nih.gov/40583039/). *Clinical genetics*. [Case Report / Case Series]
Sampath Kumar D (2026). [PMID: 41782702](https://pubmed.ncbi.nlm.nih.gov/41782702/). *Clinical nephrology. Case studies*. [Case Report / Case Series]
Li J (2025). [PMID: 40866925](https://pubmed.ncbi.nlm.nih.gov/40866925/). *European journal of medical research*. [Case Report / Case Series]
Moyaert J (2025). [PMID: 40088601](https://pubmed.ncbi.nlm.nih.gov/40088601/). *Hearing research*. [Epidemiology / Natural History]
Zhang JJ (2025). [PMID: 40777921](https://pubmed.ncbi.nlm.nih.gov/40777921/). *Pediatric diabetes*. [Case Report / Case Series]
Selvanayagam T (2025). [PMID: 40169255](https://pubmed.ncbi.nlm.nih.gov/40169255/). *Journal of medical genetics*. [Review / Meta-Analysis]
Hail NA (2025). [PMID: 41174987](https://pubmed.ncbi.nlm.nih.gov/41174987/). *Ear, nose, & throat journal*. [Review / Meta-Analysis]
Fábrega-Torrano M (2025). [PMID: 40727136](https://pubmed.ncbi.nlm.nih.gov/40727136/). *Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India*. [Basic Science / Preclinical]