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hearing loss, autosomal recessive 111 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 111

MONDO:0029142

Also known as:DFNB111deafness, autosomal recessive 111

Overview

GeneticsAutosomal recessive · MPZL2 (chr 11)

ResearchLimited published research (7 articles)

Clinical Presentation

Features include: Progressive sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Progressive sensorineural hearing impairment

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MPZL2 encodes myelin protein zero like 2 (215 aa). Mediates homophilic cell-cell adhesion Highest expression in Esophagus Mucosa (246.1 TPM) and Vagina (185.3 TPM).

Hearing loss, autosomal recessive 111 is associated with mutations in the MPZL2 gene on chromosome 11.

MPZL2 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for MPZL2 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 hearing loss, autosomal recessive 111.

7 publications have been identified in PubMed for hearing loss, autosomal recessive 111. Research spans Gene Therapy / Novel Therapeutics (57%), Case Report / Case Series (29%), and Epidemiology / Natural History (14%).

Recent Publications

Jang SH (2026). [PMID: 41058175](https://pubmed.ncbi.nlm.nih.gov/41058175/). *Molecular therapy : the journal of the American Society of Gene Therapy*. [Gene Therapy / Novel Therapeutics]
Hu SW (2025). [PMID: 40764318](https://pubmed.ncbi.nlm.nih.gov/40764318/). *Nature communications*. [Gene Therapy / Novel Therapeutics]
Bernardinelli E (2025). [PMID: 40121402](https://pubmed.ncbi.nlm.nih.gov/40121402/). *Molecular medicine (Cambridge, Mass.)*. [Epidemiology / Natural History]
Jiang L (2025). [PMID: 40840449](https://pubmed.ncbi.nlm.nih.gov/40840449/). *American journal of human genetics*. [Gene Therapy / Novel Therapeutics]
Oaxaca-Castillo D (2025). [PMID: 40981390](https://pubmed.ncbi.nlm.nih.gov/40981390/). *Audiology research*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618145

GARD

Genetic and Rare Diseases Info Center

GARD:22659

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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hearing loss, autosomal recessive 111

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