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cataract 33 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 33

MONDO:0012665

Also known as:BFSP1 early-onset non-syndromic cataractCTRCT33cataract type 33

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.

GeneticsAutosomal recessive, Autosomal dominant · BFSP1 (chr 20)

OnsetJUVENILE

Clinical Presentation

Features include always present findings: Cortical cataract. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Nuclear cataract, Cortical cataract, Lamellar cataract

Age of onset: adolescence.

Explore clinical features

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.

BFSP1 encodes beaded filament structural protein 1 (665 aa). Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA. Involved in altering the calcium regulation of MIP water permeability Highest expression in Testis (5.9 TPM) and Brain Spinal cord cervical c-1 (3.8 TPM).

Cataract 33 is associated with mutations in the BFSP1 gene on chromosome 20.

BFSP1 is classified as a druggable target with score 17.4.

Diagnosis

Genetic testing for BFSP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cataract 33 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 33.

237 publications have been identified in PubMed for cataract 33. Kisho has analyzed 120 by research type. Research spans Epidemiology / Natural History (39%), Clinical Trial Publication (24%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Disease patterns and progression	47	39%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611391

Orphanet

European rare disease database

Orphanet:217046 Orphanet:217052

GARD

Genetic and Rare Diseases Info Center

GARD:18236

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 33

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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