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microphthalmia, isolated, with coloboma 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microphthalmia, isolated, with coloboma 9

MONDO:0014059

Also known as:TENM3 microphthalmia, isolated, with colobomamicrophthalmia, isolated, with coloboma caused by mutation in TENM3microphthalmia, isolated, with coloboma type 9

Overview

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.

GeneticsAutosomal recessive · TENM3 (chr 4)

ResearchLimited published research (4 articles)

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: Microcornea, Iris coloboma, Microphthalmia, and Reduced visual acuity and others; and common findings: Macular coloboma. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	6	Retinal detachment, Pendular nystagmus, Ptosis

Genetic Landscape

TENM3 function has not been fully characterized.

Microphthalmia, isolated, with coloboma 9 is associated with mutations in the TENM3 gene on chromosome 4.

Diagnosis

Genetic testing for TENM3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 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 microphthalmia, isolated, with coloboma 9.

4 publications have been identified in PubMed for microphthalmia, isolated, with coloboma 9. Research spans Review / Meta-Analysis (75%) and Basic Science / Preclinical (25%).

Recent Publications

Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Italian journal of pediatrics*. [Review / Meta-Analysis]
Hall J (2025). [PMID: 40138169](https://pubmed.ncbi.nlm.nih.gov/40138169/). *Ophthalmology and therapy*. [Review / Meta-Analysis]
Merepa SS (2025). [PMID: 40301690](https://pubmed.ncbi.nlm.nih.gov/40301690/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]
Mahmoud A (2024). [PMID: 38350011](https://pubmed.ncbi.nlm.nih.gov/38350011/). *Ocular immunology and inflammation*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615145

GARD

Genetic and Rare Diseases Info Center

GARD:15909

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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microphthalmia, isolated, with coloboma 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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