DDX59 encodes DEAD-box helicase 59 (619 aa). Highest expression in Cells EBV-transformed lymphocytes (17.3 TPM) and Cervix Endocervix (14.8 TPM).

Orofaciodigital syndrome V is associated with mutations in the DDX59 gene on chromosome 1.

DDX59 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for DDX59 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 17 always present features, 2 very common features, 18 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for orofaciodigital syndrome V.

8 publications have been identified in PubMed for orofaciodigital syndrome V. Research spans Basic Science / Preclinical (63%) and Case Report / Case Series (38%).

Recent Publications

• Pardo LM (2025). [PMID: 41054827](https://pubmed.ncbi.nlm.nih.gov/41054827/). *Clinical genetics*. [Basic Science / Preclinical]

• Norppa AJ (2025). [PMID: 39761998](https://pubmed.ncbi.nlm.nih.gov/39761998/). *RNA (New York, N.Y.)*. [Basic Science / Preclinical]

• Shankarappa B (2025). [PMID: 39911166](https://pubmed.ncbi.nlm.nih.gov/39911166/). *Molecular syndromology*. [Case Report / Case Series]

• Porto Vasconcelos A (2025). [PMID: 39361243](https://pubmed.ncbi.nlm.nih.gov/39361243/). *Annals of human genetics*. [Case Report / Case Series]

• Hannes L (2024). [PMID: 38158857](https://pubmed.ncbi.nlm.nih.gov/38158857/). *Genetics in medicine : official journal of the American College of Medical Genetics*. [Basic Science / Preclinical]

• Mata M (2024). [PMID: 39696129](https://pubmed.ncbi.nlm.nih.gov/39696129/). *BMC pediatrics*. [Case Report / Case Series]

• Liu K (2024). [PMID: 39447495](https://pubmed.ncbi.nlm.nih.gov/39447495/). *Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS*. [Basic Science / Preclinical]

• Queiroz A (2024). [PMID: 38185723](https://pubmed.ncbi.nlm.nih.gov/38185723/). *Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry*. [Basic Science / Preclinical]