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hearing loss, X-linked 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, X-linked 6

MONDO:0010484

Also known as:COL4A6 X-linked nonsyndromic deafnessDFNX6X-linked nonsyndromic deafness caused by mutation in COL4A6

Overview

Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.

GeneticsX-linked · COL4A6 (chr X)

OnsetCONGENITAL

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: Bilateral sensorineural hearing impairment and Incomplete partition of the cochlea.

Organ System	Phenotype Count	Example Features
Ears	2	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea

Age of onset: at birth.

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.

COL4A6 encodes collagen type IV alpha 6 chain (1,691 aa). Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen Highest expression in Esophagus Gastroesophageal Junction (185.9 TPM) and Esophagus Muscularis (185.4 TPM).

Hearing loss, X-linked 6 has limited evidence linking it to mutations in the COL4A6 gene on chromosome X.

COL4A6 is classified as a druggable target (Druggable Genome category) with score 0.9.

Diagnosis

Genetic testing for COL4A6 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for hearing loss, X-linked 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

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, X-linked 6.

31 publications have been identified in PubMed for hearing loss, X-linked 6. Research spans Epidemiology / Natural History (42%), Case Report / Case Series (32%), and Basic Science / Preclinical (23%).

Research Type	Count	% of Total
Disease patterns and progression	13	42%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300914

GARD

Genetic and Rare Diseases Info Center

GARD:18097

Questions for Your Care Team

→Should female family members consider carrier screening for COL4A6?
→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, X-linked 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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