Alagille syndrome (arteriohepatic dysplasia)
Jump to navigation
Jump to search
Pathology
- cardiac, skeletal, & ophthalmologic manifestations
- pulmonic stenosis
- biliary hypoplasia, cholestatis
- vertebral anomalies
- prominent forehead
- deep set eyes
- less frequent renal & vascular involvement
Genetics
- autosomal dominant
- associated with defects in JAG1 (type 1)
- associated with defects in NOTCH2 (type 2)
More general terms
References
- ↑ Oda T et al Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nature Genetics 16:235-42, 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9207787
- ↑ Li L et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nature Genetics 16:243-51, 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9207788
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038