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autosomal recessive nonsyndromic hearing loss 91 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 91

MONDO:0013269

Also known as:DFNB91SERPINB6 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 91

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.

GeneticsAutosomal recessive · SERPINB6 (chr 6)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Progressive hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Progressive hearing impairment

Explore clinical features

Genetic Landscape

SERPINB6 function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 91 is associated with mutations in the SERPINB6 gene on chromosome 6.

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 SERPINB6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 91 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 91.

2 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 91. Research spans Diagnostic / Biomarker (50%) and Clinical Trial Publication (50%).

Recent Publications

Qi J (2025). [PMID: 40603731](https://pubmed.ncbi.nlm.nih.gov/40603731/). *Nat Med*. [Clinical Trial Publication]
Hou W (2024). [PMID: 38977330](https://pubmed.ncbi.nlm.nih.gov/38977330/). *Nan Fang Yi Ke Da Xue Xue Bao*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613453

GARD

Genetic and Rare Diseases Info Center

GARD:22636

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 91

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