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syndromic microphthalmia type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic microphthalmia type 5

MONDO:0012413

Also known as:MCOPS5OTX2 syndromic microphthalmiamicrophthalmia, syndromic type 5

Overview

Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

GeneticsAutosomal dominant · OTX2 (chr 14)

ResearchLimited published research (8 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 sometimes findings: Micropenis, Cleft palate, Short stature, and Ectopic posterior pituitary and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Optic nerve hypoplasia, Cataract, Retinal dystrophy

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.

OTX2 encodes orthodenticle homeobox 2 (289 aa). Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3' Highest expression in Brain Cerebellar Hemisphere (24.4 TPM) and Brain Cerebellum (23.8 TPM).

Syndromic microphthalmia type 5 is associated with mutations in the OTX2 gene on chromosome 14.

The OTX2 protein participates in Expression of OTX2 in anterior neural plate, Expression of GBX2 in posterior neural plate, and Expression of ZIC2 in anterior neural plate pathways.

OTX2 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for OTX2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 syndromic microphthalmia type 5.

9 publications have been identified in PubMed for syndromic microphthalmia type 5. Research spans Review / Meta-Analysis (38%), Case Report / Case Series (38%), and Basic Science / Preclinical (13%).

Recent Publications

Elmakkawy G (2026). [PMID: 41953648](https://pubmed.ncbi.nlm.nih.gov/41953648/). *Mol Vis*. [Basic Science / Preclinical]
Li C (2025). [PMID: 40736845](https://pubmed.ncbi.nlm.nih.gov/40736845/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Tian Y (2025). [PMID: 41032847](https://pubmed.ncbi.nlm.nih.gov/41032847/). *Ocul Immunol Inflamm*. [Case Report / Case Series]
Hakeem A (2025). [PMID: 39781470](https://pubmed.ncbi.nlm.nih.gov/39781470/). *Int J Biol Sci*. [Review / Meta-Analysis]
Ercoskun P (2025). [PMID: 39731278](https://pubmed.ncbi.nlm.nih.gov/39731278/). *Clin Genet*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610125

Orphanet

European rare disease database

Orphanet:178364

GARD

Genetic and Rare Diseases Info Center

GARD:3692

Questions for Your Care Team

→Should I pursue genetic testing for OTX2, 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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syndromic microphthalmia type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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