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autosomal recessive nonsyndromic hearing loss 68 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 68

MONDO:0012485

Also known as:DFNB68S1PR2 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 68

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.

GeneticsAutosomal recessive · S1PR2 (chr 19)

ResearchLimited published research (6 articles)

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

S1PR2 function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 68 is associated with mutations in the S1PR2 gene on chromosome 19.

Diagnosis

Genetic testing for S1PR2 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 recessive nonsyndromic hearing loss 68.

6 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 68. Research spans Case Report / Case Series (33%), Clinical Trial Publication (33%), and Other (17%).

Recent Publications

Qi J (2025). [PMID: 40603731](https://pubmed.ncbi.nlm.nih.gov/40603731/). *Nature medicine*. [Clinical Trial Publication]
Marucci A (2025). [PMID: 40603556](https://pubmed.ncbi.nlm.nih.gov/40603556/). *Diabetologia*. [Other]
Lourenço J (2025). [PMID: 40539137](https://pubmed.ncbi.nlm.nih.gov/40539137/). *Cureus*. [Case Report / Case Series]
Kaur G (2025). [PMID: 38391342](https://pubmed.ncbi.nlm.nih.gov/38391342/). *Indian journal of pathology & microbiology*. [Case Report / Case Series]
Cromar ZJ (2025). [PMID: 40533831](https://pubmed.ncbi.nlm.nih.gov/40533831/). *Human genomics*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610419

GARD

Genetic and Rare Diseases Info Center

GARD:22625

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 68

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