This report describes general characteristics of the group of diseases classified as ARC syndrome. ARC syndrome is an autosomal recessive disorder associated with mutations in genes encoding proteins involved with intracellular sorting and trafficking of lysosomal proteins. A listing of ARC syndrome subtypes, as defined by OMIM, may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Jan. 2016 by FlyBase; FBrf0222196]
See review by Zhou and Zhang, 2014 (pubmed:25239142).
ARC syndrome is a life-threatening autosomal recessive multisystem disorder. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive (Zhou and Zhang, 2014; pubmed:25239142).
See review by Zhou and Zhang, 2014 (pubmed:25239142).
