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glaucoma 1, open angle, A (JOAG1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glaucoma 1, open angle, A

MONDO:0007664

Also known as:JOAG1JOAG1AMYOC juvenile glaucoma

Overview

Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.

GeneticsAutosomal dominant · MYOC (chr 1)

Clinical Presentation

Features include: Abnormal iris vasculature, Glaucoma, and Myopia.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Abnormal iris vasculature
Eyes	1	Glaucoma

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.

MYOC encodes myocilin (504 aa). Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Highest expression in Esophagus Gastroesophageal Junction (301.4 TPM) and Nerve Tibial (260.2 TPM).

Glaucoma 1, open angle, A is associated with mutations in the MYOC gene on chromosome 1.

The MYOC protein participates in Expression of MYOCD in cardiogenesis, FOXO4, MEF2C, and NKX2-5 bind the MYOCD gene, and Myoclonic epilepsy of Lafora pathways.

MYOC is classified as a druggable target (Druggable Genome and Kinase categories) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for glaucoma 1, open angle, A 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 glaucoma 1, open angle, A.

122 publications have been identified in PubMed for glaucoma 1, open angle, A. Research spans Epidemiology / Natural History (34%), Basic Science / Preclinical (25%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Disease patterns and progression	42	34%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:137750

GARD

Genetic and Rare Diseases Info Center

GARD:9485

Questions for Your Care Team

→Should I pursue genetic testing for MYOC, 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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glaucoma 1, open angle, A

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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