Alagille syndrome diagnostic criteria

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

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

  1. 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.