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glaucoma 1, open angle, O - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glaucoma 1, open angle, O

MONDO:0013134

Also known as:NTF4 open-angle glaucomaglaucoma 1, open angle, 1Oglaucoma 1, open angle, type O

Overview

Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.

GeneticsNTF4 (chr 19)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include: Open angle glaucoma.

Organ System	Phenotype Count	Example Features
Eyes	1	Open angle 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.

NTF4 encodes neurotrophin 4 (210 aa). Target-derived survival factor for peripheral sensory sympathetic neurons. May promote ameloblast differentiation and subsequent reduction in proliferation of ameloblasts Highest expression in Prostate (26.2 TPM) and Skin Not Sun Exposed Suprapubic (19.0 TPM).

NTF4 is classified as a druggable target (Growth Factor category) with score 17.4.

Diagnosis

Genetic testing for NTF4 is available. Testing is considered disputed for diagnosis.

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, O.

4 publications have been identified in PubMed for glaucoma 1, open angle, O. Research spans Case Report / Case Series (50%), Clinical Trial Publication (25%), and Epidemiology / Natural History (25%).

Recent Publications

Rickels KL (2026). [PMID: 41590998](https://pubmed.ncbi.nlm.nih.gov/41590998/). *J Glaucoma*. [Epidemiology / Natural History]
Saito Y (2025). [PMID: 40881523](https://pubmed.ncbi.nlm.nih.gov/40881523/). *Cureus*. [Case Report / Case Series]
Hara T (2025). [PMID: 41181987](https://pubmed.ncbi.nlm.nih.gov/41181987/). *Journal of glaucoma*. [Clinical Trial Publication]
Tang AC (2024). [PMID: 39027080](https://pubmed.ncbi.nlm.nih.gov/39027080/). *Taiwan journal of ophthalmology*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613100

Questions for Your Care Team

→Should I pursue genetic testing for NTF4, 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, O

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team