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hearing loss, autosomal dominant 73 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 73

MONDO:0033260

Also known as:DFNA73autosomal dominant nonsyndromic deafness 73deafness, autosomal dominant 73

Overview

GeneticsAutosomal dominant · PTPRQ (chr 12)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)

Explore clinical features

Genetic Landscape

PTPRQ function has not been fully characterized.

Hearing loss, autosomal dominant 73 is associated with mutations in the PTPRQ gene on chromosome 12.

Diagnosis

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

Biomarker and diagnostic research for hearing loss, autosomal dominant 73 has been reported in the published literature.

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 hearing loss, autosomal dominant 73.

8 publications have been identified in PubMed for hearing loss, autosomal dominant 73. Research spans Epidemiology / Natural History (50%), Case Report / Case Series (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Çordan İ (2026). [PMID: 42017099](https://pubmed.ncbi.nlm.nih.gov/42017099/). *Cureus*. [Case Report / Case Series]
Kotmayer L (2025). [PMID: 40664679](https://pubmed.ncbi.nlm.nih.gov/40664679/). *Blood cancer journal*. [Epidemiology / Natural History]
Yadav M (2025). [PMID: 39278986](https://pubmed.ncbi.nlm.nih.gov/39278986/). *Pediatric nephrology (Berlin, Germany)*. [Epidemiology / Natural History]
Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Guan J (2025). [PMID: 40068948](https://pubmed.ncbi.nlm.nih.gov/40068948/). *Yi chuan = Hereditas*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617663

GARD

Genetic and Rare Diseases Info Center

GARD:18149

Questions for Your Care Team

→Should I pursue genetic testing for PTPRQ, 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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hearing loss, autosomal dominant 73

Overview

Clinical Presentation

Explore clinical features

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