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hereditary glaucoma, primary closed-angle (GLCC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary glaucoma, primary closed-angle

MONDO:0030038

Also known as:GLCCglaucoma, primary closed-anglehereditary primary angle-closure glaucoma

Overview

GeneticsAutosomal dominant · COL18A1 (chr 21)

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 common findings: Ocular hypertension; and sometimes findings: Angle closure glaucoma. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Ocular hypertension, Angle closure glaucoma
Heart and blood vessels

Genetic Landscape

COL18A1 function has not been fully characterized.

Hereditary glaucoma, primary closed-angle is associated with mutations in the COL18A1 gene on chromosome 21.

Diagnosis

Genetic testing for COL18A1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary glaucoma, primary closed-angle has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 common 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 hereditary glaucoma, primary closed-angle.

31 publications have been identified in PubMed for hereditary glaucoma, primary closed-angle. Research spans Epidemiology / Natural History (33%), Clinical Trial Publication (30%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Disease patterns and progression	9	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618880

Questions for Your Care Team

→Should I pursue genetic testing for COL18A1, 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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hereditary glaucoma, primary closed-angle

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

hereditary glaucoma, primary closed-angle

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