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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Alagille Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Alagille Syndrome
Cardiovascular Diseases > Heart Diseases > Heart Defects, Congenital > Alagille Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Heart Defects, Congenital > Alagille Syndrome
Cardiovascular Diseases > Cardiovascular Abnormalities > Heart Defects, Congenital > Alagille Syndrome
... > Digestive System Diseases > Biliary Tract Diseases > Bile Duct Diseases > Cholestasis > Cholestasis, Intrahepatic > Alagille Syndrome
Digestive System Diseases > Liver Diseases > Cholestasis, Intrahepatic > Alagille Syndrome

Preferred term

Alagille Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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).

Broader concept

Synonym(s)

  • Alagille's Syndrome
  • Alagille Watson Syndrome
  • Alagille-Watson Syndrome
  • Arteriohepatic Dysplasia
  • Arteriohepatic Dysplasia (AHD)
  • Cardiovertebral Syndrome
  • Cholestasis with Peripheral Pulmonary Stenosis
  • Dysplasia, Arteriohepatic
  • Hepatic Ductular Hypoplasia, Syndromatic
  • Hepatofacioneurocardiovertebral Syndrome
  • Watson Alagille Syndrome
  • Watson Miller Syndrome
  • Watson-Miller syndrome

Allowable Qualifier(s)

In other languages

  • Syndrome d'Alagille

    French

  • Cholestase avec sténose périphérique des branches de l'artère pulmonaire
  • Dysplasie artério-hépatique
  • Dysplasie artériohépatique
  • Paucité des voies biliaires syndromique
  • Paucité ductulaire syndromatique
  • SAG (Syndrome d'AlaGille)
  • Syndrome d'Alagille-Watson
  • Syndrome de Watson-Alagille
  • Syndrome de Watson-Miller

URI

http://data.loterre.fr/ark:/67375/JVR-K4CNPPTJ-D

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