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cataract 16 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 16 multiple types

MONDO:0013411

Also known as:CRYAB early-onset non-syndromic cataractCTRCT16early-onset non-syndromic cataract caused by mutation in CRYAB

Overview

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

GeneticsAutosomal recessive, Autosomal dominant · CRYAB (chr 11)

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: Posterior polar cataract; and sometimes findings: Developmental cataract and Retinal dystrophy. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Developmental cataract, Posterior polar cataract, Retinal dystrophy

Age of onset: at birth.

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.

CRYAB encodes crystallin alpha B (175 aa). May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. Highest expression in Heart Left Ventricle (1,863 TPM) and Brain Spinal cord cervical c-1 (1,663 TPM).

Cataract 16 multiple types is associated with mutations in the CRYAB gene on chromosome 11.

CRYAB is classified as a druggable target (Cell Surface category) with score 0.0.

Diagnosis

Genetic testing for CRYAB 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 16 multiple types.

10 publications have been identified in PubMed for cataract 16 multiple types. Research spans Clinical Trial Publication (30%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Clinical study results	3	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613763

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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Kisho

cataract 16 multiple types

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cataract 16 multiple types

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications