Synonyms: Alagille-Watson syndrome due to a NOTCH2 point mutation | Arteriohepatic dysplasia due to a NOTCH2 point mutation | Syndromic bile duct paucity due to a NOTCH2 point mutation
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Alagille syndrome due to a NOTCH2 point mutation?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Alagille Syndrome Alliance
Cindy Luxhoj Hahn Alaina's Mom President & CEO, Alagille Syndrome Alliance
Biliary Atresia and Liver Care Africa
Biliary Atresia and Liver Care Africa (BALCA) exists to raise awareness, support families, and advocate for better care for children and individuals living with biliary atresia and other liver diseases across East Africa, giving hope, information, and a strong support system while improving access to treatment and aftercare.
Cache DNA
At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.