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autosomal dominant nonsyndromic hearing loss 7 (DFNA7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 7

MONDO:0011074

Also known as:DFNA7autosomal dominant deafness 7autosomal dominant nonsyndromic deafness 7

Overview

An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.

GeneticsAutosomal dominant · LMX1A (chr 1)

Clinical Presentation

Features include: High-frequency hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	High-frequency 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.

LMX1A encodes LIM homeobox transcription factor 1 alpha (382 aa). Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Highest expression in Testis (2.9 TPM) and Pituitary (2.4 TPM).

Autosomal dominant nonsyndromic hearing loss 7 is associated with mutations in the LMX1A gene on chromosome 1.

LMX1A is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for LMX1A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 7 has been reported in the published literature.

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 7.

29 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 7. Research spans Basic Science / Preclinical (41%), Case Report / Case Series (24%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Laboratory research	12	41%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601412

GARD

Genetic and Rare Diseases Info Center

GARD:18106

Questions for Your Care Team

→Should I pursue genetic testing for LMX1A, 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 7

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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