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GENATLAS PHENOTYPE
last update : 28-04-2010
Symbol FANCM
Location 14q21
Name Fanconi anemia, complementation groupe M
Corresponding gene FANCM
Main clinical features
  • progressive bone marrow failure (pancytopenia),
  • skin pigmentary changes, short stature, upper limb malformations 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
    Function/system disorder hematology
    osteo-articular
    Type chromosomal instability syndrome
    Gene product
    Name Fanconi anemia, complementation group M protein
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense      
    Remark(s)