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cone-rod dystrophy 2 (CORD2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cone-rod dystrophy 2

MONDO:0007362

Also known as:CORD2CRD2CRX cone-rod dystrophy

Find Clinical TrialsTrials

Overview

Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.

GeneticsAutosomal dominant · CRX (chr 19)

OnsetJUVENILE, ADULT

Clinical Trials4 registered · 3 recruiting

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: Constriction of peripheral visual field, Macular hyperpigmentation, Bone spicule pigmentation of the retina, and Color vision defect and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Macular hyperpigmentation, Color vision defect, Blindness

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.

CRX encodes cone-rod homeobox (299 aa). Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Highest expression in Testis (0.1 TPM) and Liver (0.1 TPM).

Cone-rod dystrophy 2 is caused by mutations in the CRX gene on chromosome 19.

CRX is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for cone-rod dystrophy 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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.

4 clinical trials registered, 3 recruiting. Interventions under study include other interventions, medical devices, and biologic therapy. Pipeline includes 1 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

30 publications have been identified in PubMed for cone-rod dystrophy 2. Research spans Basic Science / Preclinical (30%), Case Report / Case Series (20%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Laboratory research	9

Data assembled from 7 of 12 sources · Last updated Oct 4, 2026, 3:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:120970

GARD

Genetic and Rare Diseases Info Center

GARD:6145

Questions for Your Care Team

→Are any of the 4 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for CRX, 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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cone-rod dystrophy 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cone-rod dystrophy 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications