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|
|Arthrogryposis, renal dysfunction, and cholestasis 1|
|Arthrogryposis, renal dysfunction, and cholestasis 2|
Gissen P et al. (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P et al. (2006) Clinical and molecular genetic features of ARC syndrome.
Taha D et al. (2007) A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.
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.
Abu-Sa'da O et al. (2005) Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.
None (2007) Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations.
Saraiva JM et al. (1990) Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant.
Di Rocco M et al. (1990) Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.
Mikati MA et al. (1984) Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome.
Nezelof C et al. (1979) A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease.
Di Rocco M et al. (1995) Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.
OMIM.ORG articleOmim 208085