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autosomal recessive nonsyndromic hearing loss 84A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 84A

MONDO:0013249

Also known as:DFNB84APTPRQ autosomal recessive nonsyndromic deafnessautosomal recessive deafness 84A

Overview

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

GeneticsAutosomal recessive · PTPRQ (chr 12)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include: Hearing loss (hearing impairment), Abnormal vestibular function, and Motor delay.

Organ System	Phenotype Count	Example Features
Ears	2	Hearing loss (hearing impairment), Abnormal vestibular function

Explore clinical features

Genetic Landscape

PTPRQ function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 84A is associated with mutations in the PTPRQ gene on chromosome 12.

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 PTPRQ is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 84A 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 recessive nonsyndromic hearing loss 84A.

3 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 84A. Research spans Basic Science / Preclinical (67%) and Diagnostic / Biomarker (33%).

Recent Publications

Bengl D (2025). [PMID: 40165225](https://pubmed.ncbi.nlm.nih.gov/40165225/). *BMC medical genomics*. [Diagnostic / Biomarker]
Zhang K (2025). [PMID: 41069440](https://pubmed.ncbi.nlm.nih.gov/41069440/). *Journal of otology*. [Basic Science / Preclinical]
Zhou Y (2025). [PMID: 39434500](https://pubmed.ncbi.nlm.nih.gov/39434500/). *Clinical genetics*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613391

GARD

Genetic and Rare Diseases Info Center

GARD:22634

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 84A

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