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cataract 30 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 30

MONDO:0007286

Also known as:CTRCT30cataract 30 pulverulentcataract Coppock-like

Overview

A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.

GeneticsAutosomal dominant · VIM (chr 10)

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: Pulverulent cataract, Posterior polar cataract, and Diffuse nuclear cataract.

Organ System	Phenotype Count	Example Features
Eyes	3	Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract

Explore clinical features

Genetic Landscape

VIM function has not been fully characterized.

Cataract 30 is associated with mutations in the VIM gene on chromosome 10.

Diagnosis

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

Biomarker and diagnostic research for cataract 30 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features.

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 30.

203 publications have been identified in PubMed for cataract 30. Kisho has analyzed 114 by research type. Research spans Epidemiology / Natural History (36%), Clinical Trial Publication (23%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Disease patterns and progression	41	36%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:116300

Questions for Your Care Team

→Should I pursue genetic testing for VIM, 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 30

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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