Alagille Syndrome D016738

Description

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).   MeSH

Approved Indicated Drugs (1)

Phase 4 Indicated Drugs (1)

Phase 3 Indicated Drugs (1)

Phase 1 Indicated Drugs (1)

Other Experimental Indicated Drugs (2)


Organization Involved with Phase 3 Indications (1)

Organization Involved with Phase 2 Indications (3)

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UMLS Data


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