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Fanconi anemia, complementation group D2 (FANCD2)

Defects in FANCD2 (on chromosome 3p25.3) gene are a cause of Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646].
It is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, 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.

OTHER NAME(S): FANCONI ANEMIA, COMPLEMENTATION GROUP D
FANCONI PANCYTOPENIA, TYPE 4

ABREVIATION(S):
FANCD2
FANCD
FACD
FAD2
FA4

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

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

DNAtraffic protein(s) related to disease: FANCD2

OMIM: 227646

Last modification date: Aug. 21, 2011