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Features include always present findings: Abnormal vestibular function, Nyctalopia, Drusen, and Prelingual sensorineural hearing impairment; and very common findings: Optic disc pallor. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 2 | Abnormal vestibular function, Prelingual sensorineural hearing impairment |
ESPN encodes espin (854 aa). Multifunctional actin-bundling protein. Highest expression in Testis (79.6 TPM) and Skin Not Sun Exposed Suprapubic (28.7 TPM).
Usher syndrome, type 1M is associated with mutations in the ESPN gene on chromosome 1.
ESPN is classified as a druggable target with score 0.0.
Genetic testing for ESPN is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 1 very common feature, 1 common feature.
No clinical trials have been registered for Usher syndrome, type 1M.
1 publication has been identified in PubMed for Usher syndrome, type 1M. Research spans Clinical Trial Publication (100%).
Romo-Aguas JC (2025). [PMID: 40257781](https://pubmed.ncbi.nlm.nih.gov/40257781/). *Invest Ophthalmol Vis Sci*. [Clinical Trial Publication]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC
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Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Usher syndrome, type 1M
Heart and blood vessels
1 |
Thickened left heart wall (left ventricular hypertrophy) |
Eyes | 1 | Optic disc pallor |
Age of onset: infancy.