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autosomal dominant nonsyndromic hearing loss 69 (DCUA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 69

MONDO:0014738

Also known as:DCUADFNA69KITLG autosomal dominant nonsyndromic deafness

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.

GeneticsAutosomal dominant · KITLG (chr 12)

ResearchLimited published research (1 article)

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.

KITLG encodes KIT ligand (273 aa). Ligand for the receptor-type protein-tyrosine kinase KIT. Highest expression in Cells Cultured fibroblasts (65.6 TPM) and Esophagus Muscularis (42.9 TPM).

Autosomal dominant nonsyndromic hearing loss 69 is associated with mutations in the KITLG gene on chromosome 12.

KITLG is classified as a druggable target (Druggable Genome, Growth Factor, and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for KITLG 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 dominant nonsyndromic hearing loss 69.

1 publication has been identified in PubMed for autosomal dominant nonsyndromic hearing loss 69. Research spans Review / Meta-Analysis (100%).

Recent Publications

Funck-Brentano T (2024). [PMID: 38593953](https://pubmed.ncbi.nlm.nih.gov/38593953/). *Eur J Med Genet*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616697

GARD

Genetic and Rare Diseases Info Center

GARD:18143

Questions for Your Care Team

→Should I pursue genetic testing for KITLG, 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 69

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