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Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.
Features include: Increased cellular sensitivity to UV light, Cutaneous photosensitivity, Dry skin, and Freckling and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 3 | Cutaneous photosensitivity, Dry skin, Telangiectasia |
UVSSA function has not been fully characterized.
UV-sensitive syndrome 3 is associated with mutations in the UVSSA gene on chromosome 4.
Genetic testing for UVSSA is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for UV-sensitive syndrome 3.
5 publications have been identified in PubMed for UV-sensitive syndrome 3. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Case Report / Case Series (20%).
Nakazawa Y (2025). [PMID: 39704188](https://pubmed.ncbi.nlm.nih.gov/39704188/). *FEBS letters*. [Review / Meta-Analysis]
Llerena Schiffmacher DA (2025). [PMID: 40272095](https://pubmed.ncbi.nlm.nih.gov/40272095/). *The FEBS journal*. [Review / Meta-Analysis]
Gonzalo-Hansen C (2024). [PMID: 39021334](https://pubmed.ncbi.nlm.nih.gov/39021334/). *Nucleic acids research*. [Basic Science / Preclinical]
Tan Y (2024). [PMID: 39353615](https://pubmed.ncbi.nlm.nih.gov/39353615/). *Nucleic acids research*. [Basic Science / Preclinical]
Bahap Y (2024). [PMID: 39119453](https://pubmed.ncbi.nlm.nih.gov/39119453/). *Molecular syndromology*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:26 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about UV-sensitive syndrome 3