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autosomal recessive nonsyndromic hearing loss 101 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 101

MONDO:0014363

Also known as:DFNB101GRXCR2 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 101

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.

GeneticsAutosomal recessive · GRXCR2 (chr 5)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Bilateral sensorineural hearing impairment. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Bilateral sensorineural hearing impairment, Abnormal vestibular function
Eyes

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GRXCR2 encodes glutaredoxin and cysteine rich domain containing 2 (248 aa). Required for hearing. Plays a role in maintaining cochlear stereocilia bundles that are involved in sound detection. Ensures the restriction of TPRN to the basal region of stereocilia in hair cells Highest expression in Testis (1.1 TPM) and Heart Atrial Appendage (0.5 TPM).

Autosomal recessive nonsyndromic hearing loss 101 is associated with mutations in the GRXCR2 gene on chromosome 5.

GRXCR2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GRXCR2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 autosomal recessive nonsyndromic hearing loss 101.

2 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 101. Research spans Clinical Trial Publication (50%) and Epidemiology / Natural History (50%).

Recent Publications

Qi J (2025). [PMID: 40603731](https://pubmed.ncbi.nlm.nih.gov/40603731/). *Nat Med*. [Clinical Trial Publication]
Vincent A (2025). [PMID: 40324556](https://pubmed.ncbi.nlm.nih.gov/40324556/). *Am J Ophthalmol*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615837

GARD

Genetic and Rare Diseases Info Center

GARD:22651

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal recessive nonsyndromic hearing loss 101

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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