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

Area of Science:

• Genetics
• Gastroenterology
• Bioinformatics

Background:

• Genetic testing advances increase rare disease diagnoses.
• Aggregating molecular and phenotypic data is crucial for patient care.
• No existing tool consolidates published clinical data for rare digestive diseases.

Purpose of the Study:

• To introduce PytheasDB, an online database for published clinical data on rare digestive diseases.
• To facilitate the study and treatment of rare digestive diseases by centralizing case report information.

Main Methods:

• Developed PytheasDB, an online database.
• Collected data from 172 articles, encompassing 833 patients.
• Included data on progressive familial intrahepatic cholestasis and trichohepatoenteric syndrome.

Main Results:

• PytheasDB offers access to aggregated clinical data from rare digestive disease case reports.
• Users can compare phenotypic profiles, survival rates, and other disease characteristics.
• It is the first online resource of its kind for these specific rare diseases.

Conclusions:

• PytheasDB is a novel resource for studying rare digestive diseases.
• The database is expanding to include ultra-rare pediatric digestive diseases.
• Regular updates will enhance the study and treatment of these conditions.