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GENATLAS PHENOTYPE
last update : 19-05-2010
Symbol FANCO
Location 17q22
Name Fanconi anemia, complementation group O
Corresponding gene RAD51C
Main clinical features
  • bone marrow failure and predisposition to leukemia
  • multiple congenital abnormalities, including short stature, bilateral radial hypoplasia, anal atresia, bilateral cryptorchidism, small genitalia, bilateral cystic dysplasia of the kidneys, and chronic renal failure
  • primary cultured fibroblasts showed increased chromosomal breakage after exposure to interstrand cross-linking agents, with pronounced arrest of the cell cycle at G2 associated with impaired RAD51C
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type chromosomal instability syndrome
    Remark(s)