Alagille Syndrome

Alagille syndrome is a multisystem disorder possibly affecting :

- liver: chronic cholestasis due to paucity of intrahepatic bile ducts, 

- heart: peripheral pulmonary artery stenosis and/or other heart defects,

- vertebrae: minor vertebral segmentation anomalies, 

- face: characteristic facies, 

- eye: posterior embryotoxon /anterior segment abnormalities of the eye, pigmentary retinopathy, and 

- kidney: dysplastic kidneys. 

The cause is an abnormality in components of the Notch signalling pathway, most commonly due to a mutation in JAG1 (ALGS type 1), and in a small proportion of cases mutation in NOTCH2 (ALGS type 2). It follows autosomal dominant inheritance, but reduced penetrance and variable expression are common in this disorder, and somatic/germline mosaicism may also be relatively frequent.   

Last modified
7 March 2020
Abbreviation
ALGS
OMIM

#118450 ALAGILLE SYNDROME 1; ALGS1

ORPHA

ORPHA:52 Alagille syndrome

General Medical Guideline
A review on diagnosis and management was published in 2012 by P Turnpennyand and S Ellard .
Disease
Symptom
Jaundice in the period after birth due to conjugated hyperbilirubinemia is called neonatal cholestasis . Biliary atresia and other congenital liver diseases are distinguished from...