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cataract 20 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 20 multiple types

MONDO:0007284

Also known as:CRYGS cataract (disease)CTRCT20cataract (disease) caused by mutation in CRYGS

Overview

Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene.

GeneticsAutosomal dominant · CRYGS (chr 3)

OnsetCONGENITAL

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: Nuclear cataract, Cortical cataract, Lamellar cataract, and Sutural cataract.

Organ System	Phenotype Count	Example Features
Eyes	4	Nuclear cataract, Cortical cataract, Lamellar 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.

CRYGS encodes crystallin gamma S (178 aa). Crystallins are the dominant structural components of the vertebrate eye lens Highest expression in Brain Cerebellar Hemisphere (28.0 TPM) and Brain Cerebellum (26.0 TPM).

Cataract 20 multiple types is associated with mutations in the CRYGS gene on chromosome 3.

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

Diagnosis

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

Biomarker and diagnostic research for cataract 20 multiple types has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 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 20 multiple types.

15 publications have been identified in PubMed for cataract 20 multiple types. Research spans Basic Science / Preclinical (33%), Gene Therapy / Novel Therapeutics (27%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Laboratory research	5	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:116100

Questions for Your Care Team

→Should I pursue genetic testing for CRYGS, 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 20 multiple types

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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