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.

Epidemiology

Prevalence ist still unknown. About 100 cases are published so far.

Systematic

Renal tubular acidosis with arthrogryposis
	Arthrogryposis, renal dysfunction, and cholestasis 1
	Arthrogryposis, renal dysfunction, and cholestasis 2
		VIPAS39

References:

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