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Fanconi anemia, complementation group E (FANCE)

Fanconi anemia complementation group E can be caused by homozygous mutation in the FANCE gene (613976) on chromosome 6p22-p21.
FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair.

ABREVIATION(S):
FANCE
FACE

TYPE: skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure

Related patway(s): Fanconi anemia (FA) pathway

DNAtraffic protein(s) related to disease: FANCE

OMIM: 600901

Last modification date: Aug. 21, 2011