arthrogryposis, renal dysfunction, cholestasis syndrome type 2

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arthrogryposis, renal dysfunction, cholestasis syndrome type 2

An autosomal recessive multisystem disorder (OMIM:613404) characterised by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia, reduced gamma glutamyl transpeptidase activity, and often accompanied by platelet dysfunction.

Molecular pathology
Caused by defects of VIPAS39, which encodes a protein involved in lysosomal protein trafficking.