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cataract 45 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 45

MONDO:0014799

Also known as:CTRCT45SIPA1L3 early-onset non-syndromic cataractcataract type 45

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.

GeneticsAutosomal recessive · SIPA1L3 (chr 19)

OnsetCONGENITAL

Clinical Presentation

Features include: Developmental cataract.

Organ System	Phenotype Count	Example Features
Eyes	1	Developmental cataract

Age of onset: at birth.

Explore clinical features

Genetic Landscape

SIPA1L3 function has not been fully characterized.

Cataract 45 is associated with mutations in the SIPA1L3 gene on chromosome 19.

Diagnosis

Genetic testing for SIPA1L3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cataract 45 has been reported in the published literature.

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 45.

236 publications have been identified in PubMed for cataract 45. Kisho has analyzed 121 by research type. Research spans Epidemiology / Natural History (30%), Clinical Trial Publication (26%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Disease patterns and progression	36	30%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616851

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 45

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

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