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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 25-10-2016
Symbol FANCL
Location 2p16.1
Name Fanconi anemia, complementation group L
Corresponding gene FANCL
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
    Type chromosomal instability syndrome
    Gene product
    Name Ubiquitin ligase protein PHF9