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Alagille syndrome due to a NOTCH2 point mutation

Synonyms
Alagille syndrome 2

Summary

Excerpted from the GeneReview: Alagille Syndrome
Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Nancy B Spinner
Kathleen M Loomes
Ian D Krantz
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Available tests

87 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (87 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGS2, HJCYS, hN2, NOTCH2
    Summary: notch receptor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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