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
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Arthrogryposis, renal dysfunction, and cholestasis 1
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Arthrogryposis, renal dysfunction, and cholestasis 2
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VIPAS39
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References:
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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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OMIM.ORG article Omim 613404 [^] |
Update: April 29, 2019
