Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

OMIM.ORG article

Omim 613404 [^]
Update: April 29, 2019