Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal recessive nonsyndromic hearing loss 39 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 39

MONDO:0012003

Also known as:DFNB39HGF autosomal recessive nonsyndromic deafnessautosomal recessive deafness 39

Overview

An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.

GeneticsAutosomal recessive · HGF (chr 7)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include: Prelingual sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Prelingual 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.

HGF encodes hepatocyte growth factor (728 aa). Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Highest expression in Lung (16.1 TPM) and Artery Coronary (10.4 TPM).

Autosomal recessive nonsyndromic hearing loss 39 is associated with mutations in the HGF gene on chromosome 7.

HGF is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Growth Factor, Kinase, and Protease categories) with score 10.0.

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 HGF is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 39 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 recessive nonsyndromic hearing loss 39.

8 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 39. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Gan H (2026). [PMID: 41578500](https://pubmed.ncbi.nlm.nih.gov/41578500/). *Medicine (Baltimore)*. [Case Report / Case Series]
Meisel M (2025). [PMID: 40491524](https://pubmed.ncbi.nlm.nih.gov/40491524/). *Am J Ophthalmol Case Rep*. [Case Report / Case Series]
Vincent A (2025). [PMID: 40324556](https://pubmed.ncbi.nlm.nih.gov/40324556/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Damrongchietanon T (2025). [PMID: 40998904](https://pubmed.ncbi.nlm.nih.gov/40998904/). *Sci Rep*. [Diagnostic / Biomarker]
Yan D (2025). [PMID: 39182490](https://pubmed.ncbi.nlm.nih.gov/39182490/). *Audiol Neurootol*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608265

GARD

Genetic and Rare Diseases Info Center

GARD:22608

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?

← Back to All Diseases

autosomal recessive nonsyndromic hearing loss 39

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