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Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.
Features include always present findings: Hearing loss (hearing impairment); and common findings: Progressive sensorineural hearing impairment. 3 total HPO annotations.
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:27 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 3 | Hearing loss (hearing impairment), Abnormal vestibular function, Progressive sensorineural hearing impairment |
GRXCR1 encodes glutaredoxin and cysteine rich domain containing 1 (290 aa). May play a role in actin filament architecture in developing stereocilia of sensory cells Highest expression in Testis (0.6 TPM) and Brain Nucleus accumbens basal ganglia (0.0 TPM).
Autosomal recessive nonsyndromic hearing loss 25 is associated with mutations in the GRXCR1 gene on chromosome 4.
GRXCR1 is classified as a druggable target with score 0.0.
Genetic testing for GRXCR1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 25 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 1 common feature.
No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 25.
19 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 25. Kisho has analyzed 13 by research type. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 54% |
Research summaries | 3 | 23% |
Laboratory research | 2 | 15% |
Testing and diagnosis research | 1 | 8% |
Samara P (2026). [PMID: 41594276](https://pubmed.ncbi.nlm.nih.gov/41594276/). *Diagnostics (Basel)*. [Case Report / Case Series]
Gan H (2026). [PMID: 41578500](https://pubmed.ncbi.nlm.nih.gov/41578500/). *Medicine (Baltimore)*. [Case Report / Case Series]
Elander J (2025). [PMID: 40685639](https://pubmed.ncbi.nlm.nih.gov/40685639/). *J Otolaryngol Head Neck Surg*. [Diagnostic / Biomarker]
Wang H (2025). [PMID: 40677926](https://pubmed.ncbi.nlm.nih.gov/40677926/). *Hum Mutat*. [Case Report / Case Series]
Marucci A (2025). [PMID: 40603556](https://pubmed.ncbi.nlm.nih.gov/40603556/). *Diabetologia*. [Basic Science / Preclinical]
Guillouet C (2025). [PMID: 40081376](https://pubmed.ncbi.nlm.nih.gov/40081376/). *Am J Hum Genet*. [Basic Science / Preclinical]
Demirtaş B (2024). [PMID: 39128043](https://pubmed.ncbi.nlm.nih.gov/39128043/). *J Int Adv Otol*. [Case Report / Case Series]
Marfatia H (2024). [PMID: 39716816](https://pubmed.ncbi.nlm.nih.gov/39716816/). *Cochlear Implants Int*. [Case Report / Case Series]
Hu M (2024). [PMID: 39095761](https://pubmed.ncbi.nlm.nih.gov/39095761/). *BMC Pediatr*. [Case Report / Case Series]
Jurca AD (2024). [PMID: 39064493](https://pubmed.ncbi.nlm.nih.gov/39064493/). *Medicina (Kaunas)*. [Review / Meta-Analysis]