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GENATLAS PHENOTYPE
last update : 03/10/2012
Symbol ALGS2
Location 1p11.2
HGNC id 7882
Name Alagille syndrome 2
Corresponding gene NOTCH2
Other symbol(s) AGS2
Main clinical features
  • multisystem disorder with hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations
  • an hepatic ductular hypoplasia, with cholestasis, anomalies of vertebral segmentation and valvular pulmonar stenosis, eye posterior embryotoxon and retinal pigmentary changes, severe infantile renal disease (small kidneys with cysts bilaterally, renal tubular acidosis, and renal insufficiency)
  • Genetic determination autosomal dominant
    Prevalence < 1p100 of Alagille cases
    Function/system disorder eye
    cardiovascular
    digestive tract/liver and annex
    Type disease
    Gene product
    Name notch 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   truncated protein protein is predicted to lack three of the seven ankyrin repeats and the ensuing 3 sequence
    missense   abnormal protein/loss of function  
    Remark(s)
    Genotype/Phenotype correlations
  • less cardiac involvement in the NOTCH2 group (60p100 vs 100p100 in JAG1) (PMID: 22209762))