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Alagille syndrome (arteriohepatic dysplasia)

Pathology: 1) cardiac, skeletal, & ophthalmologic manifestations 2) pulmonic stenosis 3) biliary hypoplasia, cholestatis 4) vertebral anomalies 5) prominent forehead 6) deep set eyes 7) less frequent renal & vascular involvement Genetics: - autosomal dominant - associated with defects in JAG1 (type 1) - associated with defects in NOTCH2 (type 2)

General

developmental disorder syndrome (multisystem disorder) genetic syndrome (multisystem disorder)

Properties

ASSOCIATED-NEOPLASM[S]: hepatocellular carcinoma papillary thyroid carcinoma

Database Correlations

OMIM correlations

References

  1. Oda T et al Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nature Genetics 16:235-42, 1997 PMID: 9207787
  2. 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: 9207788
  3. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038