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hearing loss, autosomal dominant 71 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 71

MONDO:0033258

Also known as:DFNA71autosomal dominant nonsyndromic deafness 71deafness, autosomal dominant 71

Overview

GeneticsAutosomal dominant · DMXL2 (chr 15)

OnsetADULT

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment). 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment)

Age of onset: adulthood.

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.

DMXL2 encodes Dmx like 2 (3,036 aa). May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles. Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes Highest expression in Brain Cerebellar Hemisphere (22.0 TPM) and Brain Cerebellum (20.8 TPM).

Hearing loss, autosomal dominant 71 is associated with mutations in the DMXL2 gene on chromosome 15.

DMXL2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DMXL2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hearing loss, autosomal dominant 71 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 dominant 71.

6 publications have been identified in PubMed for hearing loss, autosomal dominant 71. Research spans Epidemiology / Natural History (33%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

Wang H (2025). [PMID: 41107984](https://pubmed.ncbi.nlm.nih.gov/41107984/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Tlili A (2024). [PMID: 38844983](https://pubmed.ncbi.nlm.nih.gov/38844983/). *Human genomics*. [Diagnostic / Biomarker]
Hasegawa Y (2024). [PMID: 39198190](https://pubmed.ncbi.nlm.nih.gov/39198190/). *Endocrine journal*. [Review / Meta-Analysis]
He M (2024). [PMID: 39020321](https://pubmed.ncbi.nlm.nih.gov/39020321/). *BMC medical genomics*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617605

GARD

Genetic and Rare Diseases Info Center

GARD:18147

Questions for Your Care Team

→Should I pursue genetic testing for DMXL2, 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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hearing loss, autosomal dominant 71

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team