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fibrosis of extraocular muscles, congenital, 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fibrosis of extraocular muscles, congenital, 5

MONDO:0014538

Also known as:COL25A1 congenital fibrosis of extraocular musclescongenital fibrosis of extraocular muscles caused by mutation in COL25A1fibrosis of extraocular muscles, congenital, type 5

Overview

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.

GeneticsAutosomal recessive · COL25A1 (chr 4)

OnsetCONGENITAL

Clinical Presentation

Features include common findings: Ptosis and Duane anomaly.

Organ System	Phenotype Count	Example Features
Eyes	1	Ptosis

Age of onset: at birth.

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.

COL25A1 encodes collagen type XXV alpha 1 chain (654 aa). Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin Highest expression in Testis (25.8 TPM) and Adipose Subcutaneous (7.5 TPM).

Fibrosis of extraocular muscles, congenital, 5 is associated with mutations in the COL25A1 gene on chromosome 4.

The COL25A1 protein participates in Collagen type XXV pathway.

COL25A1 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for COL25A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 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 fibrosis of extraocular muscles, congenital, 5.

13 publications have been identified in PubMed for fibrosis of extraocular muscles, congenital, 5. Research spans Case Report / Case Series (38%), Clinical Trial Publication (15%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	5	38%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616219

GARD

Genetic and Rare Diseases Info Center

GARD:18164

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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fibrosis of extraocular muscles, congenital, 5

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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