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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.

external link
2.

OMIM.ORG article

Omim 613404 external link
Update: Aug. 14, 2020
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