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cataract 1 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 1 multiple types

MONDO:0007285

Also known as:CTRCT1Duffy linked cataractGJA8 cataract (disease)

Overview

Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.

GeneticsAutosomal dominant · GJA8 (chr 1)

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: Nuclear cataract and Pulverulent cataract; and sometimes findings: Microcornea. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Nuclear cataract, Pulverulent cataract, Posterior subcapsular cataract

Age of onset: at birth.

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.

GJA8 encodes gap junction protein alpha 8 (433 aa). Structural component of eye lens gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. Highest expression in Testis (12.9 TPM) and Kidney Cortex (0.0 TPM).

Cataract 1 multiple types is associated with mutations in the GJA8 gene on chromosome 1.

GJA8 is classified as a druggable target (Ion Channel and Transporter categories) with score 52.2.

Diagnosis

Genetic testing for GJA8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cataract 1 multiple types 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 cataract 1 multiple types.

11 publications have been identified in PubMed for cataract 1 multiple types. Research spans Epidemiology / Natural History (36%), Basic Science / Preclinical (27%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Disease patterns and progression	4	36%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 3:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:116200

GARD

Genetic and Rare Diseases Info Center

GARD:15047

Questions for Your Care Team

→Should I pursue genetic testing for GJA8, 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?

← Back to All Diseases

Kisho

cataract 1 multiple types

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cataract 1 multiple types

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications