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optic atrophy 5 (OPA5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

optic atrophy 5

MONDO:0012543

Also known as:OPA5

Overview

GeneticsAutosomal dominant · DNM1L (chr 12)

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: Abnormality of pattern visual evoked potentials, Damage to the optic nerve (optic atrophy), and Optic disc pallor; and common findings: Constriction of peripheral visual field and Central scotoma. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Damage to the optic nerve (optic atrophy), Optic disc pallor

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.

DNM1L encodes dynamin 1 like (736 aa). Functions in mitochondrial and peroxisomal division. Highest expression in Brain Cerebellar Hemisphere (97.7 TPM) and Brain Cerebellum (77.6 TPM).

Optic atrophy 5 is associated with mutations in the DNM1L gene on chromosome 12.

DNM1L is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for DNM1L is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for optic atrophy 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 2 common 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 optic atrophy 5.

203 publications have been identified in PubMed for optic atrophy 5. Research spans Basic Science / Preclinical (25%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Laboratory research	47	25%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 10:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610708

GARD

Genetic and Rare Diseases Info Center

GARD:10201

Questions for Your Care Team

→Should I pursue genetic testing for DNM1L, 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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Kisho

optic atrophy 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

optic atrophy 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications