Arthrogryposis, renal dysfunction, and cholestasis

Definition:

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia, ichthyosis, and diarrhoea. Mutations in VPS33B have been found in 75% cases of ARC syndrome. Individuals without VPS33B defects have mutations in VIPAR that forms a functional complex with VPS33B.

References:

[1]. Andrew R Cullinane, et al. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet. 2010 Apr;42(4):303-12. [Content Brief]

[2]. Joo Young Jang, et al. Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr. 2009 Mar;48(3):348-54. [Content Brief]

[3]. K M Eastham, et al. ARC syndrome: an expanding range of phenotypes. Arch Dis Child. 2001 Nov;85(5):415-20. [Content Brief]

[4]. Laura N Bull, et al. VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. J Pediatr. 2006 Feb;148(2):269-71. [Content Brief]

[5]. M Di Rocco, et al. Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families. Eur J Pediatr. 1995 Oct;154(10):835-9. [Content Brief]

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