Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

optic atrophy 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

optic atrophy 14

MONDO:0957824

Overview

GeneticsAutosomal dominant · MIEF1 (chr 22)

Clinical Presentation

Features include always present findings: Constriction of peripheral visual field, Reduced visual acuity, and Optic disc pallor.

Organ System	Phenotype Count	Example Features
Eyes	1	Optic disc pallor

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.

MIEF1 encodes mitochondrial elongation factor 1 (463 aa). Mitochondrial outer membrane protein which regulates mitochondrial fission/fusion dynamics. Highest expression in Testis (49.3 TPM) and Cells EBV-transformed lymphocytes (33.0 TPM).

Optic atrophy 14 is associated with mutations in the MIEF1 gene on chromosome 22.

MIEF1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MIEF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for optic atrophy 14 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 optic atrophy 14.

145 publications have been identified in PubMed for optic atrophy 14. Research spans Case Report / Case Series (26%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	37	26%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620550

Questions for Your Care Team

→Should I pursue genetic testing for MIEF1, 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?

← Back to All Diseases

optic atrophy 14

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications