Ruijs-Aalfs Syndrome (RJALS)

Ruijs-Aalfs Syndrome, also known as progeroid features-hepatocellular carcinoma predisposition syndrome, is related to spinocerebellar ataxia, autosomal recessive 23 and kenny-caffey syndrome. An important gene associated with Ruijs-Aalfs Syndrome is SPRTN (SprT-Like N-Terminal Domain), and among its related pathways/superpathways are Homology Directed Repair and DNA Damage. Affiliated tissues include liver and bone, and related phenotypes are delayed skeletal maturation and skeletal muscle atrophy