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GENATLAS PHENOTYPE
last update : 13-01-2010
Symbol FANCD2
Location 3p25.3
Name Fanconi anemia, complementation group D
Corresponding gene FANCD2
related resource Fanconi Anaemia Mutation Database
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 D2 protein
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   abnormal protein/loss of function mutations causing exon skipping or aberrant splicing might compete against but not abrogate the original splice site, guaranteeing a residual amount of FANCD2
    missense     might lead only to a partial degradation of FANCD2
    Remark(s)