Alagille Syndrome

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).

Also Known As:

Alagille-Watson Syndrome; Alagille Syndrome 1; Alagille Syndrome 2; Alagille Watson Syndrome; Alagille's Syndrome; Arteriohepatic Dysplasia (AHD); Cardiovertebral Syndrome; Cholestasis with Peripheral Pulmonary Stenosis; Hepatic Ductular Hypoplasia; Hepatic Ductular Hypoplasia, Syndromatic; Hepatofacioneurocardiovertebral Syndrome; Paucity of Interlobular Bile Ducts; Watson Alagille Syndrome; Watson Miller Syndrome; Watson-Miller syndrome; Alagilles Syndrome; Ductular Hypoplasia, Hepatic; Dysplasia, Arteriohepatic (AHD); Hypoplasia, Hepatic Ductular; Syndrome, Alagille; Syndrome, Alagille Watson; Syndrome, Alagille's; Syndrome, Alagille-Watson; Syndrome, Cardiovertebral; Syndrome, Hepatofacioneurocardiovertebral; Syndrome, Watson Alagille; Syndrome, Watson Miller; syndrome, Watson-Miller; Arteriohepatic Dysplasia; Dysplasia, Arteriohepatic

Digestive System Diseases: 1042
- Liver Diseases: 41660
  - Intrahepatic Cholestasis: 1064
    - Alagille Syndrome: 303
- Biliary Tract Diseases: 466
  - Bile Duct Diseases: 95
    - Cholestasis: 7937
      - Intrahepatic Cholestasis: 1064
        Alagille Syndrome: 303
Cardiovascular Diseases: 91362
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Alagille Syndrome: 303
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Alagille Syndrome: 303
  - Multiple Abnormalities: 211
    - Alagille Syndrome: 303
- Inborn Genetic Diseases: 11939
  - Alagille Syndrome: 303

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Therapy/Procedure