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Fanconi anemia, complementation group D1 (FANCD1)

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. FA complementation group D is heterogeneous, consisting of 2 distinct loci, FANCD1 and FANCD2 (227646).

OTHER NAME(S): Fanconi D1

ABREVIATION(S):
FANCD1
FAD1

TYPE: blood cell cancer, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability

Related patway(s): Fanconi anemia (FA) pathway, homologous recombination (HR)

DNAtraffic protein(s) related to disease: BRCA2 (FANCD1)

OMIM: 605724

Last modification date: Aug. 21, 2011