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GENATLAS PHENOTYPE
last update : 7/10/2005
Symbol ATLD
Location 11q21
Name ataxia-telangiectasia-like disorder
Corresponding gene MRE11A
Main clinical features
  • cerebellar ataxia, telangiectasias, immune deficiency, sensitivity to ionizing radiation and radiomimetic drugs, increased risk of leukemia and epithelial tumors, almost indistinguistable from the AT form . associated with chromosomal instability
    • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    neurology
    Type disease
    Gene product
    Name meiotic recombination 11A
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutation in the nuclease domain leading to modification of inter actions MRE11A/RAD50/NBS1