Arthrogryposis, renal dysfunction, and cholestasis 2
The ARC syndrome 2 is an autosomal recessive disorder caused by loss-of-funktion mutations of the VIPAS39 gene. The disorder is characterized by arthrogryposis (persistent flexure of a joint), renal dysfunction (metabolic acidosis), and cholestasis.
Prevalence ist still unknown. About 100 cases are published so far.
|Renal tubular acidosis with arthrogryposis|
|Arthrogryposis, renal dysfunction, and cholestasis 1|
|Arthrogryposis, renal dysfunction, and cholestasis 2|
Cullinane AR et. al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.[^]