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.

Systematic

Cystic kidney disease
Alagille syndrome 2
NOTCH2
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)

References:

1.

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

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2.

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

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Update: Sept. 26, 2018