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cataract 14 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 14 multiple types

MONDO:0011162

Also known as:CTRCT14GJA3 early-onset non-syndromic cataractearly-onset non-syndromic cataract caused by mutation in GJA3

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.

GeneticsAutosomal dominant · GJA3 (chr 13)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include: Zonular cataract.

Organ System	Phenotype Count	Example Features
Eyes	1	Zonular cataract

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.

GJA3 encodes gap junction protein alpha 3 (435 aa). Structural component of lens fiber gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. Highest expression in Heart Left Ventricle (4.1 TPM) and Heart Atrial Appendage (2.4 TPM).

Cataract 14 multiple types is associated with mutations in the GJA3 gene on chromosome 13.

GJA3 is classified as a druggable target (Ion Channel and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for GJA3 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 cataract 14 multiple types.

8 publications have been identified in PubMed for cataract 14 multiple types. Research spans Epidemiology / Natural History (38%), Gene Therapy / Novel Therapeutics (38%), and Review / Meta-Analysis (13%).

Recent Publications

Han L (2025). [PMID: 40101035](https://pubmed.ncbi.nlm.nih.gov/40101035/). *Medicine (Baltimore)*. [Epidemiology / Natural History]
Zhang H (2025). [PMID: 41291698](https://pubmed.ncbi.nlm.nih.gov/41291698/). *BMC Med Genomics*. [Gene Therapy / Novel Therapeutics]
Jones JL (2025). [PMID: 40229141](https://pubmed.ncbi.nlm.nih.gov/40229141/). *Clin Genet*. [Gene Therapy / Novel Therapeutics]
Lungambi TM (2025). [PMID: 40474114](https://pubmed.ncbi.nlm.nih.gov/40474114/). *BMC Ophthalmol*. [Epidemiology / Natural History]
Bartek V (2025). [PMID: 41462830](https://pubmed.ncbi.nlm.nih.gov/41462830/). *Children (Basel)*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601885

Questions for Your Care Team

→Should I pursue genetic testing for GJA3, 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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cataract 14 multiple types

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