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cataract 6 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract 6 multiple types

MONDO:0007288

Also known as:CTRCT6EPHA2 cataract (disease)cataract (disease) caused by mutation in EPHA2

Overview

Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.

GeneticsAutosomal dominant · EPHA2 (chr 1)

Clinical Presentation

Features include always present findings: Posterior polar cataract. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Developmental cataract, Posterior polar cataract

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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.

EPHA2 encodes EPH receptor A2 (976 aa). Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. Highest expression in Esophagus Mucosa (197.6 TPM) and Vagina (101.4 TPM).

Cataract 6 multiple types is associated with mutations in the EPHA2 gene on chromosome 1.

The EPHA2 protein participates in EPHAs bind EFNAs, RHOG GEFs activate RHOG, and TBX3-dependent ID1 gene expression pathways.

EPHA2 is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, Kinase, and Tyrosine Kinase categories) with score 5.8.

Diagnosis

Genetic testing for EPHA2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cataract 6 multiple types has been reported in the published literature.

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 6 multiple types.

18 publications have been identified in PubMed for cataract 6 multiple types. Research spans Epidemiology / Natural History (39%), Basic Science / Preclinical (22%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Disease patterns and progression	7	39%

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:116600

Questions for Your Care Team

→Should I pursue genetic testing for EPHA2, 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 6 multiple types

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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