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keratoconus 9 (KTCN9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

keratoconus 9

MONDO:0054771

Also known as:KTCN9

Overview

GeneticsAutosomal dominant · TUBA3D (chr 2)

Clinical Presentation

Features include always present findings: Decreased corneal thickness, Keratoconus, and Reduced visual acuity.

Organ System	Phenotype Count	Example Features
Eyes	2	Decreased corneal thickness, Keratoconus

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Genetic Landscape

TUBA3D function has not been fully characterized.

Keratoconus 9 is associated with mutations in the TUBA3D gene on chromosome 2.

Diagnosis

Genetic testing for TUBA3D is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for keratoconus 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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.

No clinical trials have been registered for keratoconus 9.

201 publications have been identified in PubMed for keratoconus 9. Kisho has analyzed 104 by research type. Research spans Epidemiology / Natural History (24%), Basic Science / Preclinical (19%), and Clinical Trial Publication (18%).

Research Type	Count	% of Total
Disease patterns and progression	25	24%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617928

Questions for Your Care Team

→Should I pursue genetic testing for TUBA3D, 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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keratoconus 9

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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