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congenital fibrosis of extraocular muscles type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital fibrosis of extraocular muscles type 1

MONDO:0021083

Also known as:CFEOM1KIF21A congenital fibrosis of extraocular musclescongenital fibrosis of extraocular muscles caused by mutation in KIF21A

Overview

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.

GeneticsAutosomal dominant · KIF21A (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: Superior rectus atrophy, Restrictive external ophthalmoplegia, Congenital fibrosis of extraocular muscles, and Levator palpebrae superioris atrophy and 6 more.

Organ System	Phenotype Count	Example Features
Muscles	3	Superior rectus atrophy, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy

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.

KIF21A encodes kinesin family member 21A (1,674 aa). Processive microtubule plus-end directed motor protein involved in neuronal axon guidance. Highest expression in Brain Cerebellar Hemisphere (44.0 TPM) and Brain Cerebellum (34.5 TPM).

Congenital fibrosis of extraocular muscles type 1 is associated with mutations in the KIF21A gene on chromosome 12.

KIF21A is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KIF21A is available. Testing is considered confirmatory for diagnosis.

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 congenital fibrosis of extraocular muscles type 1.

15 publications have been identified in PubMed for congenital fibrosis of extraocular muscles type 1. Research spans Case Report / Case Series (33%), Other (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	5	33%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:135700

Questions for Your Care Team

→Should I pursue genetic testing for KIF21A, 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

congenital fibrosis of extraocular muscles type 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital fibrosis of extraocular muscles type 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications