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autosomal recessive nonsyndromic hearing loss 79 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 79

MONDO:0013215

Also known as:DFNB79TPRN autosomal recessive nonsyndromic deafnessautosomal recessive deafness 79

Overview

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

GeneticsAutosomal recessive · TPRN (chr 9)

OnsetCHILDHOOD

ResearchLimited published research (4 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: Delayed speech and language development, Progressive sensorineural hearing impairment, and Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	2	Progressive sensorineural hearing impairment, Inner ear hearing loss (sensorineural hearing impairment)

Genetic Landscape

TPRN function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 79 is associated with mutations in the TPRN gene on chromosome 9.

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 TPRN is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 79 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 79.

4 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 79. Research spans Diagnostic / Biomarker (25%), Clinical Trial Publication (25%), and Basic Science / Preclinical (25%).

Recent Publications

Uwibambe E (2025). [PMID: 40149409](https://pubmed.ncbi.nlm.nih.gov/40149409/). *Genes (Basel)*. [Epidemiology / Natural History]
Liu Y (2025). [PMID: 40555484](https://pubmed.ncbi.nlm.nih.gov/40555484/). *Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Clinical Trial Publication]
Ding Y (2025). [PMID: 40195191](https://pubmed.ncbi.nlm.nih.gov/40195191/). *Eur Arch Otorhinolaryngol*. [Basic Science / Preclinical]
Elander J (2025). [PMID: 40685639](https://pubmed.ncbi.nlm.nih.gov/40685639/). *J Otolaryngol Head Neck Surg*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613307

GARD

Genetic and Rare Diseases Info Center

GARD:22633

Questions for Your Care Team

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→Is there a patient registry I should consider joining?

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autosomal recessive nonsyndromic hearing loss 79

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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