Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Alagille syndrome diagnostic criteria
Introduction
Overview
Overview
Diagnostic Criteria
Diagnostic Criteria
To make a diagnosis of Alagille syndrome, a positive liver biopsy and the presence of three of the following symptoms are usually required:
- liver symptoms
- heart abnormalities or murmurs
- skeletal abnormalities
- posterior embryotoxon
- facial features typical of Alagille syndrome
A blood sample may also be tested to look for the JAG1 gene mutation. The gene mutation can be identified in 95 percent of people with a diagnosis of Alagille syndrome based on signs and symptoms.[1] A person can also be diagnosed with Alagille syndrome if the JAG1 gene mutation alone is present—even when no major symptoms of the disorder are evident.
References
References
- ↑ Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez P, Piccoli DA, Krantz ID, Spinner NB. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Human Mutation. 2006;27(5):436–443.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]