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cataract 19 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 19 multiple types

MONDO:0014111

Also known as:CTRCT19LIM2 early-onset non-syndromic cataractcataract type 19

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.

GeneticsAutosomal recessive · LIM2 (chr 19)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Nystagmus, Cortical pulverulent cataract, and Amblyopia.

Organ System	Phenotype Count	Example Features
Eyes	3	Nystagmus, Cortical pulverulent cataract, Amblyopia

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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.

LIM2 encodes lens intrinsic membrane protein 2 (173 aa). Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. Highest expression in Whole Blood (0.5 TPM) and Testis (0.3 TPM).

Cataract 19 multiple types is associated with mutations in the LIM2 gene on chromosome 19.

LIM2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LIM2 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 19 multiple types.

2 publications have been identified in PubMed for cataract 19 multiple types. Research spans Review / Meta-Analysis (50%) and Gene Therapy / Novel Therapeutics (50%).

Recent Publications

Sun HS (2025). [PMID: 39994538](https://pubmed.ncbi.nlm.nih.gov/39994538/). *BMC Ophthalmol*. [Gene Therapy / Novel Therapeutics]
Shiels A (2024). [PMID: 38927721](https://pubmed.ncbi.nlm.nih.gov/38927721/). *Genes (Basel)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615277

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 19 multiple types

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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