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 | ||||
VIPAS39 | ||||
1. |
Cullinane AR et al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. |
2. |
OMIM.ORG article Omim 613404 |