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ENAlagille Syndrome 2 (ALGS2)
Alias:
Alagille Syndrome Due to a Notch2 Point Mutation
Algs2
Syndromic Bile Duct Paucity Due to a Notch2 Point Mutation
Alagille-Watson Syndrome Due to a Notch2 Point Mutation
Arteriohepatic Dysplasia Due to a Notch2 Point Mutation
Cholestasis with Peripheral Pulmonary Stenosis
Alagille Syndrome, Type 2
Alagille-Watson Syndrome
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Alagille Syndrome 2, also known as alagille syndrome due to a notch2 point mutation, is related to alagille syndrome 1 and watson syndrome. An important gene associated with Alagille Syndrome 2 is NOTCH2 (Notch Receptor 2). Affiliated tissues include liver and eye, and related phenotypes are hypertension and proteinuria
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