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Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:32 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment). 3 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
Eyes | 1 | Abnormality of vision |
ESRRB encodes estrogen related receptor beta (433 aa). Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Highest expression in Kidney Medulla (11.8 TPM) and Stomach (3.7 TPM).
Autosomal recessive nonsyndromic hearing loss 35 is associated with mutations in the ESRRB gene on chromosome 14.
The ESRRB protein participates in Transcriptional regulation of pluripotent stem cells pathway.
ESRRB is classified as a druggable target (Druggable Genome, Ion Channel, Nuclear Hormone Receptor, Transcription Factor, and Transporter categories) with score 4.4.
Genetic testing for ESRRB is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 35 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 35.
9 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 35. Research spans Basic Science / Preclinical (25%), Epidemiology / Natural History (25%), and Diagnostic / Biomarker (13%).
Hoang NC (2026). [PMID: 41955303](https://pubmed.ncbi.nlm.nih.gov/41955303/). *Hum Mol Genet*. [Basic Science / Preclinical]
Xun M (2026). [PMID: 41058172](https://pubmed.ncbi.nlm.nih.gov/41058172/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Colbert BM (2025). [PMID: 39560289](https://pubmed.ncbi.nlm.nih.gov/39560289/). *Laryngoscope*. [Basic Science / Preclinical]
Riahi Z (2025). [PMID: 41359850](https://pubmed.ncbi.nlm.nih.gov/41359850/). *Proc Natl Acad Sci U S A*. [Epidemiology / Natural History]
Vincent A (2025). [PMID: 40324556](https://pubmed.ncbi.nlm.nih.gov/40324556/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Shimanuki MN (2024). [PMID: 39340975](https://pubmed.ncbi.nlm.nih.gov/39340975/). *Auris Nasus Larynx*. [Case Report / Case Series]
Hou W (2024). [PMID: 38977330](https://pubmed.ncbi.nlm.nih.gov/38977330/). *Nan Fang Yi Ke Da Xue Xue Bao*. [Diagnostic / Biomarker]
Zhang L (2024). [PMID: 39556694](https://pubmed.ncbi.nlm.nih.gov/39556694/). *Adv Sci (Weinh)*. [Review / Meta-Analysis]