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cataract 39 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 39 multiple types

MONDO:0014075

Also known as:CRYGB early-onset non-syndromic cataractCTRCT39autosomal dominant cataract 39 multiple types

Overview

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

GeneticsAutosomal dominant · CRYGB (chr 2)

ResearchLimited published research (4 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: Developmental cataract; and common findings: Lamellar cataract. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Anterior polar cataract, Developmental cataract, Lamellar cataract

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.

CRYGB encodes crystallin gamma B (175 aa). Crystallins are the dominant structural components of the vertebrate eye lens Highest expression in Testis (0.7 TPM) and Brain Spinal cord cervical c-1 (0.2 TPM).

Cataract 39 multiple types is associated with mutations in the CRYGB gene on chromosome 2.

CRYGB is classified as a druggable target (Enzyme category) with score 7.5.

Diagnosis

Genetic testing for CRYGB 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 39 multiple types.

4 publications have been identified in PubMed for cataract 39 multiple types. Research spans Review / Meta-Analysis (25%), Clinical Trial Publication (25%), and Basic Science / Preclinical (25%).

Recent Publications

Shah MH (2025). [PMID: 39994382](https://pubmed.ncbi.nlm.nih.gov/39994382/). *Scientific reports*. [Basic Science / Preclinical]
Mesquita R (2025). [PMID: 40725401](https://pubmed.ncbi.nlm.nih.gov/40725401/). *Genes*. [Epidemiology / Natural History]
Shiels A (2024). [PMID: 38927721](https://pubmed.ncbi.nlm.nih.gov/38927721/). *Genes*. [Review / Meta-Analysis]
Wang MY (2024). [PMID: 39648025](https://pubmed.ncbi.nlm.nih.gov/39648025/). *[Zhonghua yan ke za zhi] Chinese journal of ophthalmology*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615188

Questions for Your Care Team

→Should I pursue genetic testing for CRYGB, 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 39 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