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autosomal dominant nonsyndromic hearing loss 21 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 21

MONDO:0011761

Also known as:DFNA21autosomal dominant deafness 21autosomal dominant nonsyndromic deafness 21

Overview

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.

GeneticsAutosomal dominant · RIPOR2 (chr 6)

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

RIPOR2 function has not been fully characterized.

Autosomal dominant nonsyndromic hearing loss 21 is associated with mutations in the RIPOR2 gene on chromosome 6.

Diagnosis

Genetic testing for RIPOR2 is available. Testing is considered confirmatory for diagnosis.

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 dominant nonsyndromic hearing loss 21.

16 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 21. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	5	33%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607017

GARD

Genetic and Rare Diseases Info Center

GARD:18116

Questions for Your Care Team

→Should I pursue genetic testing for RIPOR2, 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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autosomal dominant nonsyndromic hearing loss 21

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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