arthrogryposis-renal dysfunction-cholestasis syndrome

Pathology

• multisystem disorder
• neurogenic arthrogryposis multiplex congenita
• renal tubular dysfunction
• neonatal cholestasis with bile duct hypoplasia
• platelet dysfunction is common

Genetics

• autosomal recessive
• associated with defects in VPS33B gene

Laboratory

• low serum gamma-glutamyltranspeptidase
• platelet function testing may be abnormal

More general terms

• syndrome

Additional terms

• vacuolar protein sorting-associated protein 33B (VPS33B, hVPS33B)

Database

• OMIM: https://mirror.omim.org/entry/208085