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GENATLAS PHENOTYPE
last update : 05-12-2013
Symbol FANCA
Location 16q24.3
Name Fanconi anemia, complementation group A
Corresponding gene FANCA
related resource Fanconi Anaemia Mutation Database
Other symbol(s) FA1, FAA
Main clinical features
  • progressive bone marrow failure (pancytopenia),
  • skeletal abnormalities, radial hypoplasia and vertebral defect and other physical abnormalities
  • increased risk of hematologic and non-hematologic malignancies
  • endocrine dysfunction , early onset osteopenia/osteoporosis and lipid abnormalities
  • spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents.
    • Genetic determination autosomal recessive
    Prevalence . 60p100 of Fanconi anemia patients (PMID: 22194614)
    Function/system disorder hematology
    osteo-articular
    Type chromosomal instability syndrome
    Gene product
    Name Fanconi anemia, complementation group A protein
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   abnormal protein/loss of function  
    missense   truncated protein  
    deletion   unknown  
    Remark(s) . high frequency of deletions probably Alu-mediated