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cataract 17 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 17 multiple types

MONDO:0012688

Also known as:CRYBB1 early-onset non-syndromic cataractCTRCT17early-onset non-syndromic cataract caused by mutation in CRYBB1

Overview

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.

GeneticsAutosomal recessive, Autosomal dominant · CRYBB1 (chr 22)

OnsetCONGENITAL

ResearchLimited published research (6 articles)

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; and sometimes findings: Microcornea and Amblyopia. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Nuclear cataract, Nystagmus, Pulverulent cataract

Age of onset: at birth.

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.

CRYBB1 encodes crystallin beta B1 (252 aa). Crystallins are the dominant structural components of the vertebrate eye lens Highest expression in Spleen (2.4 TPM) and Brain Frontal Cortex BA9 (2.0 TPM).

Cataract 17 multiple types is associated with mutations in the CRYBB1 gene on chromosome 22.

CRYBB1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for CRYBB1 is available. Testing is considered confirmatory for diagnosis.

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 17 multiple types.

6 publications have been identified in PubMed for cataract 17 multiple types. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Pu X (2026). [PMID: 41241409](https://pubmed.ncbi.nlm.nih.gov/41241409/). *BMJ Evid Based Med*. [Review / Meta-Analysis]
Zhang H (2025). [PMID: 41291698](https://pubmed.ncbi.nlm.nih.gov/41291698/). *BMC Med Genomics*. [Basic Science / Preclinical]
Bartek V (2025). [PMID: 41462830](https://pubmed.ncbi.nlm.nih.gov/41462830/). *Children (Basel)*. [Epidemiology / Natural History]
Lungambi TM (2025). [PMID: 40474114](https://pubmed.ncbi.nlm.nih.gov/40474114/). *BMC Ophthalmol*. [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, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611544

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 17 multiple types

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team