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cataract 4 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 4 multiple types

MONDO:0007281

Also known as:CRYGD cataract (disease)CTRCT4cataract (disease) caused by mutation in CRYGD

Overview

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

GeneticsAutosomal dominant · CRYGD (chr 2)

Clinical Presentation

Features include: Developmental cataract.

Organ System	Phenotype Count	Example Features
Eyes	1	Developmental 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.

CRYGD encodes crystallin gamma D (174 aa). Crystallins are the dominant structural components of the vertebrate eye lens Highest expression in Ovary (8.4 TPM) and Brain Hypothalamus (2.9 TPM).

Cataract 4 multiple types is associated with mutations in the CRYGD gene on chromosome 2.

CRYGD is classified as a druggable target (Enzyme category) with score 26.1.

Diagnosis

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

Biomarker and diagnostic research for cataract 4 multiple types has been reported in the published literature.

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 4 multiple types.

59 publications have been identified in PubMed for cataract 4 multiple types. Research spans Case Report / Case Series (29%), Clinical Trial Publication (20%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	17	29%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 3:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:115700

GARD

Genetic and Rare Diseases Info Center

GARD:1144

Questions for Your Care Team

→Should I pursue genetic testing for CRYGD, 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 4 multiple types

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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