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GENATLAS PHENOTYPE
last update : 14-03-2012
Symbol MCTO
Location 20q12
Name multicentric carpotarsal osteolysis
Corresponding gene MAFB
Main clinical features
  • skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure
  • progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved, associated with chronic renal failure, mental retardation and minor facial anomalies
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Remark(s)