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cataract 46 juvenile-onset - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 46 juvenile-onset

MONDO:0008925

Also known as:CTRCT46LEMD2 early-onset non-syndromic cataractearly-onset non-syndromic cataract caused by mutation in LEMD2

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.

GeneticsAutosomal recessive · LEMD2 (chr 6)

OnsetADULT

ResearchLimited published research (1 article)

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 always present findings: Juvenile cataract; and common findings: Arrhythmia. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Arrhythmia, Sudden cardiac death
Eyes

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.

LEMD2 encodes LEM domain nuclear envelope protein 2 (503 aa). Nuclear lamina-associated inner nuclear membrane protein that is involved in nuclear structure organization, maintenance of nuclear envelope (NE) integrity and NE reformation after mitosis. Highest expression in Brain Cerebellum (71.2 TPM) and Brain Cerebellar Hemisphere (70.2 TPM).

Cataract 46 juvenile-onset is associated with mutations in the LEMD2 gene on chromosome 6.

The LEMD2 protein participates in EMD/ TMPO/ LEMD3/ LEMD2, EMD/TMPO/LEMD3/LEMD2:Lamin filaments, and EMD/TMPO/LEMD3/LEMD2:Lamin filaments:BANF1:Chromatin pathways.

LEMD2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LEMD2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common 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 46 juvenile-onset.

1 publication has been identified in PubMed for cataract 46 juvenile-onset. Research spans Review / Meta-Analysis (100%).

Recent Publications

Shiels A (2024). [PMID: 38927721](https://pubmed.ncbi.nlm.nih.gov/38927721/). *Genes (Basel)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:212500

Orphanet

European rare disease database

Orphanet:98987

GARD

Genetic and Rare Diseases Info Center

GARD:1150

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 46 juvenile-onset

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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