Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ARC syndrome 1 is an autosomal recessive disorder caused by loss-of-funktion mutations of the VPS33B gene. The disorder is characterized by arthrogryposis (persisten 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
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Arthrogryposis, renal dysfunction, and cholestasis 1
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VPS33B
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Arthrogryposis, renal dysfunction, and cholestasis 2
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| 1. |
Gissen P et al. (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 
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| 2. |
Gissen P et al. (2006) Clinical and molecular genetic features of ARC syndrome.
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| 3. |
Taha D et al. (2007) A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.
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| 4. |
Horslen SP et al. (1994) Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.
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| 5. |
Abu-Sa'da O et al. (2005) Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.
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| 6. |
None (2007) Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations.
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| 7. |
Saraiva JM et al. (1990) Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant.
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| 8. |
Di Rocco M et al. (1990) Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.
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| 9. |
Mikati MA et al. (1984) Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome.
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| 10. |
Nezelof C et al. (1979) A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease.
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| 11. |
Di Rocco M et al. (1995) Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.
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| 12. |
OMIM.ORG article Omim 208085
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