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Disease Alagille Syndrome

Name Alagille Syndrome
Synonyms AHD | Alagille's Syndrome | Alagilles Syndrome | ALAGILLE SYNDROME | Alagille Syndrome 1 | Alagille Syndrome 2 | Alagille Watson Syndrome | Alagille-Watson Syndrome | ALGS | ALGS1 | ALGS2 | Arteriohepatic Dysplasia | Arteriohepatic Dysplasia (AHD) | AWS | Cardiovertebral Syndrome | Cholestasis with Peripheral Pulmonary Stenosis | Ductular Hypoplasia, Hepatic | Dysplasia, Arteriohepatic | Dysplasia, Arteriohepatic (AHD) | Hepatic Ductular Hypoplasia | Hepatic Ductular Hypoplasia, Syndromatic | Hepatofacioneurocardiovertebral Syndrome | Hypoplasia, Hepatic Ductular | Paucity of Interlobular Bile Ducts | Syndrome, Alagille | Syndrome, Alagille's | Syndrome, Alagille Watson | Syndrome, Alagille-Watson | Syndrome, Cardiovertebral | Syndrome, Hepatofacioneurocardiovertebral | Syndrome, Watson Alagille | syndrome, Watson-Miller | Syndrome, Watson Miller | Watson Alagille Syndrome | Watson-Miller syndrome | Watson Miller Syndrome
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).
Categories Cardiovascular disease | Congenital abnormality | Digestive system disease | Genetic disease (inborn)
MeSH® ID D016738
OMIM® IDs 118450 | 610205
External Links

Top ↑ Ancestors

1. DiseasesDigestive System Diseases Has associated chemicals Has associated genes Has associated exposure references Biliary Tract Diseases Has associated chemicals Has associated genes Has associated exposure references Bile Duct Diseases Has associated chemicals Has associated genes Has associated exposure references Cholestasis Has associated chemicals Has associated genes Has associated exposure references Cholestasis, Intrahepatic Has associated chemicals Has associated genes Alagille Syndrome Has associated chemicals Has associated genes
2. DiseasesDigestive System Diseases Has associated chemicals Has associated genes Has associated exposure references Liver Diseases Has associated chemicals Has associated genes Has associated exposure references Cholestasis, Intrahepatic Has associated chemicals Has associated genes Alagille Syndrome Has associated chemicals Has associated genes
3. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references Alagille Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Alagille Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references Alagille Syndrome Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Alagille Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

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