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autosomal dominant nonsyndromic hearing loss 41 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 41

MONDO:0011994

Also known as:DFNA41P2RX2 autosomal dominant nonsyndromic deafnessautosomal dominant deafness 41

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.

GeneticsAutosomal dominant · P2RX2 (chr 12)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include: Progressive sensorineural hearing impairment and Tinnitus.

Organ System	Phenotype Count	Example Features
Ears	2	Progressive sensorineural hearing impairment, Tinnitus

Explore clinical features

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.

P2RX2 encodes purinergic receptor P2X 2 (471 aa). ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and calcium. Highest expression in Prostate (17.3 TPM) and Esophagus Gastroesophageal Junction (12.0 TPM).

Autosomal dominant nonsyndromic hearing loss 41 is associated with mutations in the P2RX2 gene on chromosome 12.

P2RX2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for P2RX2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 41 has been reported in the published literature.

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 dominant nonsyndromic hearing loss 41.

3 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 41. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Damrongchietanon T (2025). [PMID: 40998904](https://pubmed.ncbi.nlm.nih.gov/40998904/). *Sci Rep*. [Diagnostic / Biomarker]
Zhang Y (2025). [PMID: 41015553](https://pubmed.ncbi.nlm.nih.gov/41015553/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Basic Science / Preclinical]
Li Q (2025). [PMID: 39258340](https://pubmed.ncbi.nlm.nih.gov/39258340/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608224

GARD

Genetic and Rare Diseases Info Center

GARD:18121

Questions for Your Care Team

→Should I pursue genetic testing for P2RX2, and what would the results mean for my family?
→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 dominant nonsyndromic hearing loss 41

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team