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hearing loss, autosomal dominant 84 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 84

MONDO:0030724

Also known as:DFNA84deafness, autosomal dominant 84

Overview

GeneticsAutosomal dominant · ATP11A (chr 13)

ResearchLimited published research (2 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

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.

ATP11A encodes ATPase phospholipid transporting 11A (1,134 aa). Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the plasma membrane. Highest expression in Lung (45.9 TPM) and Pituitary (26.8 TPM).

Hearing loss, autosomal dominant 84 is associated with mutations in the ATP11A gene on chromosome 13.

ATP11A is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for ATP11A 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 dominant 84.

2 publications have been identified in PubMed for hearing loss, autosomal dominant 84. Research spans Review / Meta-Analysis (100%).

Recent Publications

Aboagye ET (2025). [PMID: 41516007](https://pubmed.ncbi.nlm.nih.gov/41516007/). *Int J Mol Sci*. [Review / Meta-Analysis]
中国耳聋基因筛查与诊断临床多中心研究协作组 (2025). [PMID: 40263647](https://pubmed.ncbi.nlm.nih.gov/40263647/). *Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619810

Questions for Your Care Team

→Should I pursue genetic testing for ATP11A, 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 84

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team