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optic atrophy 11 (OPA11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

optic atrophy 11

MONDO:0015011

Also known as:OPA11YME1L1 autosomal recessive isolated optic atrophyautosomal recessive isolated optic atrophy caused by mutation in YME1L1

Overview

Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.

GeneticsAutosomal recessive · YME1L1 (chr 10)

OnsetINFANTILE

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: Fiber type grouping, Motor delay, Intellectual disability, and Expressive language delay and others; and common findings: Poor speech, Hearing loss (hearing impairment), Strabismus, and Dysmetria and others. 46 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Poor speech, Seizure, Ataxia

Genetic Landscape

YME1L1 function has not been fully characterized.

Optic atrophy 11 has limited evidence linking it to mutations in the YME1L1 gene on chromosome 10.

Diagnosis

Genetic testing for YME1L1 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for optic atrophy 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 always present features, 19 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 11.

141 publications have been identified in PubMed for optic atrophy 11. Kisho has analyzed 98 by research type. Research spans Epidemiology / Natural History (32%), Basic Science / Preclinical (28%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Disease patterns and progression	31	32%

Data assembled from 6 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:617302

GARD

Genetic and Rare Diseases Info Center

GARD:18201

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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optic atrophy 11

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 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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