Alagille Syndrome

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Introduction

Alagille syndrome is a genetic disorder affecting the gastrointestinal (liver cholestasis), cardiac (heart), renal (kidney), skeletal, ocular, and facial. Alagille syndrome is transmitted in an autosomal dominant pattern of inheritance (1 in every 100,000 live births) with incomplete penetrance. Caused by mutations in the human homolog of Jagged-1 on chromosome 20p12. Jagged-1 is a ligand in the Notch receptor signalling pathway.


Named after Daniel Alagille (1925 - 2005) a French physician who specialized in pediatric hepatology, the study of childhood liver diseases.


Genetic Links: genetic abnormalities | maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | trisomy mosaicism | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | mitochondria | VACTERL | hydatidiform mole | epigenetics | Prenatal Diagnosis | Neonatal Diagnosis | meiosis | mitosis | International Classification of Diseases | genetics

Some Recent Findings

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Search Pubmed: Williams Syndrome | GTF2IRD1

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Cite this page: Hill, M.A. (2024, March 29) Embryology Alagille Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Alagille_Syndrome

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G