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Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.
Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment) and Prelingual sensorineural hearing impairment. 4 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 3 | Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment), Prelingual sensorineural hearing impairment |
Eyes | 1 | Visual impairment |
GIPC3 encodes GIPC PDZ domain containing family member 3 (312 aa). Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion Highest expression in Esophagus Muscularis (14.9 TPM) and Lung (8.0 TPM).
Autosomal recessive nonsyndromic hearing loss 15 is associated with mutations in the GIPC3 gene on chromosome 19.
GIPC3 is classified as a druggable target with score 0.0.
Genetic testing for GIPC3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 15 has been reported in the published literature.
Phenotype severity distribution: 2 always present features.
No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 15.
30 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 15. Research spans Case Report / Case Series (23%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 23% |
Laboratory research | 6 | 20% |
Disease patterns and progression | 6 | 20% |
Testing and diagnosis research | 5 | 17% |
Research summaries | 3 | 10% |
Clinical study results | 3 | 10% |
Huynh BC (2026). [PMID: 41845931](https://pubmed.ncbi.nlm.nih.gov/41845931/). *Ophthalmic Genet*. [Basic Science / Preclinical]
Theunis M (2026). [PMID: 41126390](https://pubmed.ncbi.nlm.nih.gov/41126390/). *Ophthalmic Genet*. [Review / Meta-Analysis]
Issa K (2026). [PMID: 41948131](https://pubmed.ncbi.nlm.nih.gov/41948131/). *Sage Open Pediatr*. [Case Report / Case Series]
Abati E (2026). [PMID: 42089726](https://pubmed.ncbi.nlm.nih.gov/42089726/). *J Neuromuscul Dis*. [Review / Meta-Analysis]
Ding Y (2025). [PMID: 40195191](https://pubmed.ncbi.nlm.nih.gov/40195191/). *Eur Arch Otorhinolaryngol*. [Diagnostic / Biomarker]
Qi J (2025). [PMID: 40603731](https://pubmed.ncbi.nlm.nih.gov/40603731/). *Nat Med*. [Clinical Trial Publication]
Janky KL (2025). [PMID: 40420514](https://pubmed.ncbi.nlm.nih.gov/40420514/). *J Am Acad Audiol*. [Epidemiology / Natural History]
Cheon TU (2025). [PMID: 41461707](https://pubmed.ncbi.nlm.nih.gov/41461707/). *Sci Rep*. [Diagnostic / Biomarker]
Long X (2025). [PMID: 40410890](https://pubmed.ncbi.nlm.nih.gov/40410890/). *Hum Genomics*. [Basic Science / Preclinical]
Damrongchietanon T (2025). [PMID: 40998904](https://pubmed.ncbi.nlm.nih.gov/40998904/). *Sci Rep*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC
Online Mendelian Inheritance in Man
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