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autosomal recessive nonsyndromic hearing loss 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 8

MONDO:0010987

Also known as:DFNB10DFNB8NRSD8

Overview

An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.

GeneticsAutosomal recessive · TMPRSS3 (chr 21)

Clinical Presentation

Features include: 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

TMPRSS3 function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 8 is associated with mutations in the TMPRSS3 gene on chromosome 21.

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 TMPRSS3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 8 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 8.

65 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 8. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	21	32%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601072

GARD

Genetic and Rare Diseases Info Center

GARD:22589

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 8

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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