Alagille Syndrome

Overview

A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Alagille Syndrome

Topic type

Condition

Category

Cardiology

MeSH classification

C06.130.120.135.250.125|C06.552.150.125|C14.240.400.044|C16.131.077.065|C16.131.240.400.044|C16.320.051

Preparing for an appointment about Alagille Syndrome

If you are speaking with a healthcare professional about Alagille Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Alagille Syndrome

EuroCareFinder helps patients explore clinics and healthcare providers across Europe. Some topics link directly to services offered by clinics, while others may be connected through related specialties, treatments or procedures.

Related topics

Explore healthcare providers

Use EuroCareFinder to browse clinics by country, specialty and available services.