arthrogryposis, renal dysfunction, cholestasis syndrome type 1

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arthrogryposis, renal dysfunction, cholestasis syndrome type 1

An 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.
 
Molecular pathology
Caused by defects of VPS33B, which encodes a protein that may play a role in vesicle-mediated protein trafficking..
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