PytheasDB: An open-access graphical database of clinical data on rare pediatric digestive diseases

抄録

Advances in genetic testing over the past decades are driving a continuing increase in the diagnosis and reporting of rare genetic diseases, but no tool has yet been developed to aggregate published molecular and phenotypic data, a task that is nevertheless essential to optimize patient care. In this article, we present PytheasDB, an online database of published clinical data from patients with rare digestive diseases. At the time of writing (August 2024), the database contains data from 833 patients with progressive familial intrahepatic cholestasis or trichohepatoenteric syndrome, collected from 172 articles. Users can compare the phenotypic profiles, sex ratios, survival curves, ages at first symptoms, and consanguinity rates of the included diseases. PytheasDB is the first ever online resource providing access to aggregated clinical data from case reports of rare digestive diseases in the literature. The database is currently being expanded to cover ultra-rare pediatric digestive diseases with regular updates to optimize the study and treatment of these diseases.