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cataract 31 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 31 multiple types

MONDO:0011547

Also known as:CHMP4B early-onset non-syndromic cataractCTRCT31early-onset non-syndromic cataract caused by mutation in CHMP4B

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.

GeneticsAutosomal dominant · CHMP4B (chr 20)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include: Nuclear cataract, Anterior subcapsular cataract, and Posterior subcapsular cataract.

Organ System	Phenotype Count	Example Features
Eyes	3	Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract

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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.

CHMP4B encodes charged multivesicular body protein 4B (224 aa). Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. Highest expression in Artery Tibial (334.8 TPM) and Artery Aorta (287.2 TPM).

Cataract 31 multiple types is associated with mutations in the CHMP4B gene on chromosome 20.

CHMP4B is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for CHMP4B 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 31 multiple types.

4 publications have been identified in PubMed for cataract 31 multiple types. Research spans Review / Meta-Analysis (50%) and Epidemiology / Natural History (50%).

Recent Publications

Pu X (2026). [PMID: 41241409](https://pubmed.ncbi.nlm.nih.gov/41241409/). *BMJ Evid Based Med*. [Review / Meta-Analysis]
Ogawa M (2025). [PMID: 39419841](https://pubmed.ncbi.nlm.nih.gov/39419841/). *Graefes Arch Clin Exp Ophthalmol*. [Epidemiology / Natural History]
Bartek V (2025). [PMID: 41462830](https://pubmed.ncbi.nlm.nih.gov/41462830/). *Children (Basel)*. [Epidemiology / Natural History]
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, 1:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605387

Questions for Your Care Team

→Should I pursue genetic testing for CHMP4B, 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 31 multiple types

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team