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cataract 43 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 43

MONDO:0014565

Also known as:CTRCT43UNC45B early-onset non-syndromic cataractcataract type 43

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.

GeneticsAutosomal dominant · UNC45B (chr 17)

OnsetJUVENILE

Clinical Presentation

Features include always present findings: Posterior subcapsular cataract.

Organ System	Phenotype Count	Example Features
Eyes	1	Posterior subcapsular cataract

Age of onset: adolescence.

Explore clinical features

Genetic Landscape

UNC45B function has not been fully characterized.

Cataract 43 is associated with mutations in the UNC45B gene on chromosome 17.

Diagnosis

Genetic testing for UNC45B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cataract 43 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 43.

217 publications have been identified in PubMed for cataract 43. Kisho has analyzed 99 by research type. Research spans Epidemiology / Natural History (35%), Clinical Trial Publication (30%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Disease patterns and progression	35	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616279

Questions for Your Care Team

→Should I pursue genetic testing for UNC45B, 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 43

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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