arthrogryposis, renal dysfunction, cholestasis syndrome type 1(redirected from ARCS1)
arthrogryposis, renal dysfunction, cholestasis syndrome type 1An autosomal recessive multisystem disorder (OMIM:208085) characterised by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia, low gamma glutamyl transpeptidase activity, and often accompanied by platelet dysfunction.
Caused by defects of VPS33B, which encodes a protein that may play a role in vesicle-mediated protein trafficking..
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