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cataract 34 multiple types (CATC3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 34 multiple types

MONDO:0013067

Also known as:CATC3CTRCT34FOXE3 cataract (disease)

Overview

Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.

GeneticsAutosomal recessive · FOXE3 (chr 1)

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: Cloudy or opaque cornea (corneal opacity), Nystagmus, Membranous cataract, and Posterior subcapsular cataract.

Organ System	Phenotype Count	Example Features
Eyes	4	Cloudy or opaque cornea (corneal opacity), Nystagmus, Membranous 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.

FOXE3 encodes forkhead box E3 (319 aa). Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle. Highest expression in Testis (2.3 TPM) and Nerve Tibial (1.2 TPM).

Cataract 34 multiple types is associated with mutations in the FOXE3 gene on chromosome 1.

FOXE3 is classified as a druggable target (Transcription Factor, Transcription Factor Complex, and Tumor Suppressor categories) with score 0.0.

Diagnosis

Genetic testing for FOXE3 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 34 multiple types.

18 publications have been identified in PubMed for cataract 34 multiple types. Research spans Case Report / Case Series (41%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Patient case studies	7	41%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612968

GARD

Genetic and Rare Diseases Info Center

GARD:15599

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?

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cataract 34 multiple types

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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