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

cataract 18 (CATC2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 18

MONDO:0012395

Also known as:CATC2CTRCT18FYCO1 cataract (disease)

Overview

Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.

GeneticsAutosomal recessive · FYCO1 (chr 3)

Clinical Presentation

Features include: Nuclear cataract.

Organ System	Phenotype Count	Example Features
Eyes	1	Nuclear 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.

FYCO1 encodes FYVE and coiled-coil domain autophagy adaptor 1 (1,478 aa). May mediate microtubule plus end-directed vesicle transport Highest expression in Muscle Skeletal (74.0 TPM) and Artery Tibial (72.6 TPM).

Cataract 18 is associated with mutations in the FYCO1 gene on chromosome 3.

FYCO1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FYCO1 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 18.

216 publications have been identified in PubMed for cataract 18. Kisho has analyzed 87 by research type. Research spans Epidemiology / Natural History (46%), Review / Meta-Analysis (17%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Disease patterns and progression	40	46%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 6:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610019

GARD

Genetic and Rare Diseases Info Center

GARD:9892

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

cataract 18

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications