Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Alagille syndrome 2

Alagille syndrome 2 is an autosomal dominant disorder caused by mutations of the NOTCH2 gene. Clinical features include renal cysts , skeletal abnormalities, cholestasis, and pulmonary artery stenosis.


Cystic kidney disease
Alagille syndrome 2
Autosomal dominant polycystic kidney disease
Autosomal recessive polycystic kidney and hepatic disease 1
Branchiootorenal dysplasia
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hajdu-Cheney syndrome
Medullary cystic disease complex
Polycystic kidney disease with hyperinsulinemic hypoglycemia
Renal cysts and diabetes (RCAD)



McCright B et al. (2001) Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation.


McDaniell R et al. (2006) NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.


OMIM.ORG article

Omim 610205 [^]
Update: April 29, 2019